#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SAMD11	148398	broad.mit.edu	37	1	871231	871231	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:871231T>A	ENST00000342066.3	+	5	468	c.385T>A	c.(385-387)Tgt>Agt	p.C129S		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	129				C -> L (in Ref. 4; AAH24295). {ECO:0000305}.	negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCAGAGCCGCTGTGAATTCCA	0.672																																						uc001abw.1		NA																	0					0						c.(385-387)TGT>AGT		sterile alpha motif domain containing 11							69.0	64.0	66.0					1																	871231		2203	4300	6503	SO:0001583	missense	148398					nucleus		g.chr1:871231T>A	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.385T>A	1.37:g.871231T>A	ENSP00000342313:p.Cys129Ser					SAMD11_uc001abv.1_Missense_Mutation_p.C129S|SAMD11_uc001abx.1_Missense_Mutation_p.C8S	p.C129S	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	5	465	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	129	C -> L (in Ref. 2; AAH24295).				A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.385T>A	CCDS2.2	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247064	0.22796	.	.	ENSG00000187634	ENST00000420190;ENST00000342066	.	.	.	3.9	3.9	0.45041	.	0.252177	0.33834	N	0.004518	T	0.57403	0.2051	L	0.34521	1.04	0.35470	D	0.79725	D;D	0.61080	0.989;0.981	D;D	0.72625	0.978;0.95	T	0.64960	-0.6284	9	0.44086	T	0.13	-10.7077	9.3006	0.37842	0.0:0.0:0.0:1.0	.	129;129	Q96NU1-1;Q96NU1	.;SAM11_HUMAN	S	129	.	ENSP00000342313:C129S	C	+	1	0	SAMD11	861094	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.168000	0.31859	1.768000	0.52137	0.459000	0.35465	TGT		0.672	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		24	70	0	0	0	0	24	70				
ICMT	23463	broad.mit.edu	37	1	6291999	6291999	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:6291999G>C	ENST00000343813.5	-	4	663	c.635C>G	c.(634-636)tCt>tGt	p.S212C		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	212					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|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;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCGACGTAAGAAGGATGCCG	0.373																																						uc001amk.2		NA																	0					0						c.(634-636)TCT>TGT		isoprenylcysteine carboxyl methyltransferase							125.0	114.0	118.0					1																	6291999		2202	4300	6502	SO:0001583	missense	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6291999G>C	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.635C>G	1.37:g.6291999G>C	ENSP00000343552:p.Ser212Cys					ICMT_uc001aml.2_Missense_Mutation_p.S116C	p.S212C	NM_012405	NP_036537	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	4	708	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|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)	212					Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	c.635C>G	CCDS61.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915311	0.92178	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.85509	0.5713	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86613	0.1874	9	0.66056	D	0.02	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	212	O60725	ICMT_HUMAN	C	212;116	.	ENSP00000343552:S212C	S	-	2	0	ICMT	6214586	1.000000	0.71417	0.926000	0.36857	0.992000	0.81027	9.238000	0.95380	2.884000	0.98904	0.655000	0.94253	TCT		0.373	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		3	51	0	0	0	0	3	51				
TNFRSF9	3604	broad.mit.edu	37	1	7999954	7999954	+	Splice_Site	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:7999954C>T	ENST00000377507.3	-	2	267		c.e2+1			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9						apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTACTCACCAGCTGGGCA	0.453																																						uc001aot.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.e2+1		tumor necrosis factor receptor superfamily,							103.0	87.0	92.0					1																	7999954		2203	4300	6503	SO:0001630	splice_region_variant	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7999954C>T	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.100+1G>A	1.37:g.7999954C>T							p.G34_splice	NM_001561	NP_001552	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	2	228	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)							Splice_Site	SNP	ENST00000377507.3	37	c.100_splice	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079277	0.36662	.	.	ENSG00000049249	ENST00000377507	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4028	0.55422	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNFRSF9	7922541	1.000000	0.71417	0.924000	0.36721	0.078000	0.17371	3.292000	0.51772	2.368000	0.80403	0.563000	0.77884	.		0.453	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		Intron	21	48	0	0	0	0	21	48				
PEX14	5195	broad.mit.edu	37	1	10659315	10659315	+	Missense_Mutation	SNP	G	G	A	rs535743906		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:10659315G>A	ENST00000356607.4	+	4	270	c.190G>A	c.(190-192)Gat>Aat	p.D64N	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	64					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGAAGAGATTGATATGGCCTT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		18090	0.001		0.0	False		,,,				2504	0.0					uc001arn.2		NA																	0				breast(1)	1						c.(190-192)GAT>AAT		peroxisomal biogenesis factor 14							113.0	103.0	106.0					1																	10659315		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10659315G>A	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.190G>A	1.37:g.10659315G>A	ENSP00000349016:p.Asp64Asn					PEX14_uc009vmu.1_Intron|PEX14_uc009vmv.2_5'UTR|PEX14_uc010oam.1_5'UTR|PEX14_uc010oan.1_Intron|PEX14_uc009vmw.2_5'UTR	p.D64N	NM_004565	NP_004556	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	4	211	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	64					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.190G>A	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428654	0.43122	.	.	ENSG00000142655	ENST00000356607	T	0.51325	0.71	6.05	5.13	0.70059	Peroxisome membrane anchor protein Pex14p, N-terminal (1);	0.197501	0.52532	N	0.000078	T	0.49949	0.1587	M	0.65975	2.015	0.80722	D	1	B	0.14012	0.009	B	0.19391	0.025	T	0.49634	-0.8919	10	0.59425	D	0.04	.	15.6472	0.77063	0.0662:0.0:0.9338:0.0	.	64	O75381	PEX14_HUMAN	N	64	ENSP00000349016:D64N	ENSP00000349016:D64N	D	+	1	0	PEX14	10581902	1.000000	0.71417	0.060000	0.19600	0.917000	0.54804	5.624000	0.67764	1.537000	0.49254	0.650000	0.86243	GAT		0.542	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			11	94	0	0	0	0	11	94				
MTOR	2475	broad.mit.edu	37	1	11206848	11206848	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:11206848C>A	ENST00000361445.4	-	32	4647	c.4571G>T	c.(4570-4572)gGt>gTt	p.G1524V	MTOR_ENST00000495435.1_5'Flank|MTOR-AS1_ENST00000420480.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1524	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|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 stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GTCCCACTGACCTATACACAC	0.488																																						uc001asd.2		NA																	0				central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(4570-4572)GGT>GTT		FK506 binding protein 12-rapamycin associated							96.0	87.0	90.0					1																	11206848		2203	4300	6503	SO:0001630	splice_region_variant	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11206848C>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4571-1G>T	1.37:g.11206848C>A							p.G1524V	NM_004958	NP_004949	P42345	MTOR_HUMAN			32	4692	-			1524			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4571G>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825196	0.90955	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.71934	-0.61	5.86	5.86	0.93980	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.86953	2.85	0.80722	D	1	P	0.43885	0.82	P	0.46885	0.53	T	0.82004	-0.0672	10	0.59425	D	0.04	.	13.3953	0.60849	0.0:0.9285:0.0:0.0715	.	1524	P42345	MTOR_HUMAN	V	1524	ENSP00000354558:G1524V	ENSP00000354558:G1524V	G	-	2	0	MTOR	11129435	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.752000	0.68728	2.771000	0.95319	0.563000	0.77884	GGT		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	Missense_Mutation	18	40	1	0	1.34e-09	2.63e-09	18	40				
UBIAD1	29914	broad.mit.edu	37	1	11334044	11334044	+	Silent	SNP	G	G	C	rs555247860	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:11334044G>C	ENST00000376810.5	+	1	782	c.456G>C	c.(454-456)ctG>ctC	p.L152L	UBIAD1_ENST00000376804.2_Silent_p.L152L	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	152					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TCTACTACCTGTCCCCTCTGA	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		17645	0.0		0.0	False		,,,				2504	0.002					uc001asg.2		NA																	0					0						c.(454-456)CTG>CTC		UbiA prenyltransferase domain containing 1							79.0	77.0	78.0					1																	11334044		2203	4300	6503	SO:0001819	synonymous_variant	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11334044G>C		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.456G>C	1.37:g.11334044G>C							p.L152L	NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	1	790	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	152			Helical; (Potential).		B3KQG3|Q53GX3|Q5THD4	Silent	SNP	ENST00000376810.5	37	c.456G>C	CCDS129.1																																																																																				0.557	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		8	57	0	0	0	0	8	57				
AADACL4	343066	broad.mit.edu	37	1	12726424	12726424	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:12726424C>T	ENST00000376221.1	+	4	902	c.902C>T	c.(901-903)cCc>cTc	p.P301L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	301						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCTACCAACCCTGGTCTCCC	0.493																																						uc001auf.2		NA																	0					0						c.(901-903)CCC>CTC		arylacetamide deacetylase-like 4							79.0	87.0	84.0					1																	12726424		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726424C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.902C>T	1.37:g.12726424C>T	ENSP00000365395:p.Pro301Leu						p.P301L	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	902	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	301			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.902C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229634	0.39399	.	.	ENSG00000204518	ENST00000376221	T	0.61392	0.11	4.38	1.48	0.22813	.	0.206543	0.42053	D	0.000765	T	0.52709	0.1751	L	0.55213	1.73	0.09310	N	0.999999	P	0.46912	0.886	P	0.48571	0.582	T	0.45833	-0.9234	10	0.16420	T	0.52	-10.6614	8.5567	0.33485	0.0:0.7449:0.0:0.2551	.	301	Q5VUY2	ADCL4_HUMAN	L	301	ENSP00000365395:P301L	ENSP00000365395:P301L	P	+	2	0	AADACL4	12649011	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.469000	0.22067	0.122000	0.18314	0.655000	0.94253	CCC		0.493	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		28	92	0	0	0	0	28	92				
PAX7	5081	broad.mit.edu	37	1	19062184	19062184	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:19062184C>A	ENST00000375375.3	+	8	1812	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y	PAX7_ENST00000420770.2_Missense_Mutation_p.S405Y|PAX7_ENST00000400661.3_Missense_Mutation_p.S403Y	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	405					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCTGACTTCTCCATCTCCCCG	0.657			T	FOXO1A	alveolar rhabdomyosarcoma																																	uc001bay.2		NA		Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203						c.(1213-1215)TCC>TAC		paired box 7 isoform 1							56.0	58.0	57.0					1																	19062184		2203	4300	6503	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19062184C>A	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1214C>A	1.37:g.19062184C>A	ENSP00000364524:p.Ser405Tyr					PAX7_uc001baz.2_Missense_Mutation_p.S403Y|PAX7_uc010oct.1_Missense_Mutation_p.S405Y	p.S405Y	NM_002584	NP_002575	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	8	1812	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	405					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1214C>A	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547469	0.86022	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95205	-3.64;-3.63;-3.64	4.58	4.58	0.56647	.	0.121499	0.56097	D	0.000024	D	0.95294	0.8473	L	0.53249	1.67	0.58432	D	0.999999	D;D;D	0.61080	0.971;0.989;0.985	P;P;P	0.60173	0.732;0.87;0.781	D	0.93720	0.7032	10	0.22706	T	0.39	.	16.3027	0.82831	0.0:1.0:0.0:0.0	.	405;403;405	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	Y	405;405;403	ENSP00000364524:S405Y;ENSP00000403389:S405Y;ENSP00000383502:S403Y	ENSP00000364524:S405Y	S	+	2	0	PAX7	18934771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.251000	0.74343	0.561000	0.74099	TCC		0.657	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		21	65	1	0	3.52e-12	7.17e-12	21	65				
ALPL	249	broad.mit.edu	37	1	21889671	21889671	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:21889671G>T	ENST00000374840.3	+	5	616	c.366G>T	c.(364-366)aaG>aaT	p.K122N	ALPL_ENST00000374832.1_Missense_Mutation_p.K122N|ALPL_ENST00000539907.1_Missense_Mutation_p.K45N|ALPL_ENST00000540617.1_Missense_Mutation_p.K67N|ALPL_ENST00000425315.2_Missense_Mutation_p.K122N|ALPL_ENST00000468526.1_3'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	122					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GTGGGGTGAAGGCCAATGAGG	0.657																																						uc001bet.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(364-366)AAG>AAT		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)						85.0	75.0	79.0					1																	21889671		2203	4300	6503	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21889671G>T	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.366G>T	1.37:g.21889671G>T	ENSP00000363973:p.Lys122Asn					ALPL_uc010odn.1_Missense_Mutation_p.K70N|ALPL_uc010odo.1_Missense_Mutation_p.K67N|ALPL_uc010odp.1_Missense_Mutation_p.K45N|ALPL_uc001beu.3_Missense_Mutation_p.K122N	p.K122N	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	5	623	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	122					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.366G>T	CCDS217.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837775	0.71373	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315	D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.049139	0.85682	D	0.000000	D	0.99290	0.9752	H	0.99357	4.53	0.52501	D	0.99995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.98686	1.0694	10	0.87932	D	0	-2.2082	6.6799	0.23115	0.192:0.0:0.808:0.0	.	45;70;122	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	N	45;67;122;122;122	ENSP00000437674:K45N;ENSP00000442672:K67N;ENSP00000363973:K122N;ENSP00000363965:K122N;ENSP00000394765:K122N	ENSP00000363965:K122N	K	+	3	2	ALPL	21762258	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.791000	0.47829	2.320000	0.78422	0.655000	0.94253	AAG		0.657	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		13	66	1	0	0.000151284	0.000264653	13	66				
E2F2	1870	broad.mit.edu	37	1	23848419	23848419	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:23848419T>C	ENST00000361729.2	-	3	914	c.488A>G	c.(487-489)gAc>gGc	p.D163G	E2F2_ENST00000487237.1_5'Flank	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	163	Leucine-zipper.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTCTGCACGTCCAGCACCTC	0.567																																						uc001bhe.1		NA																	0				ovary(2)|skin(2)	4						c.(487-489)GAC>GGC		E2F transcription factor 2							135.0	121.0	126.0					1																	23848419		2203	4300	6503	SO:0001583	missense	1870				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23848419T>C	L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.488A>G	1.37:g.23848419T>C	ENSP00000355249:p.Asp163Gly						p.D163G	NM_004091	NP_004082	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	3	916	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	163			Leucine-zipper.|DEF box.|Potential.		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	ENST00000361729.2	37	c.488A>G	CCDS236.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960387	0.53400	.	.	ENSG00000007968	ENST00000361729	T	0.07567	3.18	5.35	4.2	0.49525	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.215706	0.41097	D	0.000949	T	0.03520	0.0101	N	0.00621	-1.32	0.47949	D	0.99955	P	0.36683	0.565	B	0.40825	0.341	T	0.55560	-0.8122	10	0.56958	D	0.05	-13.5233	11.5167	0.50526	0.0:0.0:0.15:0.8499	.	163	Q14209	E2F2_HUMAN	G	163	ENSP00000355249:D163G	ENSP00000355249:D163G	D	-	2	0	E2F2	23721006	1.000000	0.71417	0.950000	0.38849	0.994000	0.84299	4.117000	0.57877	0.834000	0.34852	0.482000	0.46254	GAC		0.567	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091		4	71	0	0	0	0	4	71				
HMGCL	3155	broad.mit.edu	37	1	24137224	24137224	+	Splice_Site	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:24137224A>C	ENST00000374490.3	-	6	605		c.e6+1		HMGCL_ENST00000436439.2_Intron|HMGCL_ENST00000374483.4_Splice_Site|HMGCL_ENST00000509389.1_Intron	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		ACATGCACACACCTCAGCTAC	0.582											OREG0013233	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bib.2		NA																	0				central_nervous_system(1)	1						c.e6+1		3-hydroxy-3-methylglutaryl CoA lyase isoform 1							118.0	102.0	107.0					1																	24137224		2203	4300	6503	SO:0001630	splice_region_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24137224A>C	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.561+1T>G	1.37:g.24137224A>C			OREG0013233	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	769	HMGCL_uc010oec.1_Intron|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Splice_Site_p.E162_splice|HMGCL_uc009vqs.1_Intron|HMGCL_uc001bid.1_Missense_Mutation_p.V188G	p.E187_splice	NM_000191	NP_000182	P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	6	605	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)						B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Splice_Site	SNP	ENST00000374490.3	37	c.561_splice	CCDS243.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.510117	0.85282	.	.	ENSG00000117305	ENST00000374490;ENST00000374483	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9975	0.71443	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCL	24009811	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.459000	0.90367	2.019000	0.59389	0.528000	0.53228	.		0.582	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191	Intron	6	22	0	0	0	0	6	22				
ZNF683	257101	broad.mit.edu	37	1	26691026	26691026	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:26691026G>C	ENST00000436292.1	-	4	1131	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	ZNF683_ENST00000403843.1_Silent_p.L337L|ZNF683_ENST00000374204.1_Silent_p.L337L|ZNF683_ENST00000349618.3_Silent_p.L337L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	337					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGATACCTTGAGATTGGAGA	0.537																																						uc001bmg.1		NA																	0					0						c.(1009-1011)CTC>CTG		zinc finger protein 683							140.0	143.0	142.0					1																	26691026		2203	4300	6503	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691026G>C	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1011C>G	1.37:g.26691026G>C						ZNF683_uc001bmh.1_Silent_p.L337L|ZNF683_uc009vsj.1_Silent_p.L337L	p.L337L	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	1129	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	337			C2H2-type 1.		Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.1011C>G																																																																																					0.537	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		34	131	0	0	0	0	34	131				
AHDC1	27245	broad.mit.edu	37	1	27878118	27878118	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:27878118G>A	ENST00000247087.5	-	5	1105	c.509C>T	c.(508-510)tCa>tTa	p.S170L	AHDC1_ENST00000374011.2_Missense_Mutation_p.S170L			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	170	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CAAACTGGGTGAGGAGAAGAA	0.662																																						uc009vsy.2		NA																	0				central_nervous_system(1)	1						c.(508-510)TCA>TTA		AT hook, DNA binding motif, containing 1							88.0	95.0	93.0					1																	27878118		2203	4299	6502	SO:0001583	missense	27245						DNA binding	g.chr1:27878118G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.509C>T	1.37:g.27878118G>A	ENSP00000247087:p.Ser170Leu					AHDC1_uc009vsz.1_Missense_Mutation_p.S170L|AHDC1_uc001boh.1_Missense_Mutation_p.S43L	p.S170L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1478	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	170			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.509C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888503	0.72524	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.55234	0.53;0.53	4.36	4.36	0.52297	.	.	.	.	.	T	0.44705	0.1306	N	0.19112	0.55	0.40119	D	0.976572	D	0.55172	0.97	P	0.46275	0.51	T	0.55431	-0.8142	9	0.87932	D	0	-5.2137	15.6512	0.77095	0.0:0.0:1.0:0.0	.	170	Q5TGY3	AHDC1_HUMAN	L	170	ENSP00000247087:S170L;ENSP00000363123:S170L	ENSP00000247087:S170L	S	-	2	0	AHDC1	27750705	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	7.413000	0.80104	1.966000	0.57179	0.313000	0.20887	TCA		0.662	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			6	127	0	0	0	0	6	127				
PTPRU	10076	broad.mit.edu	37	1	29652139	29652139	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:29652139C>T	ENST00000345512.3	+	31	4436	c.4307C>T	c.(4306-4308)gCc>gTc	p.A1436V	PTPRU_ENST00000323874.8_Missense_Mutation_p.A1432V|PTPRU_ENST00000373779.3_Missense_Mutation_p.A1426V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A1432V|PTPRU_ENST00000428026.2_Missense_Mutation_p.A1423V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A1430V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1436	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.			A -> V (in Ref. 5; AAB07074). {ECO:0000305}.	canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TACGATGTGGCCCTGGAGTAC	0.622																																						uc001bru.2		NA																	0				large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(4306-4308)GCC>GTC		protein tyrosine phosphatase, receptor type, U							165.0	143.0	150.0					1																	29652139		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29652139C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4307C>T	1.37:g.29652139C>T	ENSP00000334941:p.Ala1436Val					PTPRU_uc001brv.2_Missense_Mutation_p.A1432V|PTPRU_uc001brw.2_Missense_Mutation_p.A1426V|PTPRU_uc009vtq.2_Missense_Mutation_p.A1430V|PTPRU_uc009vtr.2_Missense_Mutation_p.A1423V|PTPRU_uc001brx.2_Missense_Mutation_p.A162V	p.A1436V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	31	4417	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1436	A -> V (in Ref. 5; AAB07074).		Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.4307C>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234817	0.58886	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.05	3.08	0.35506	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.359353	0.25091	U	0.033217	T	0.66934	0.2840	N	0.16266	0.395	0.46874	D	0.999233	B;B;B;B;B	0.25105	0.047;0.047;0.047;0.058;0.118	B;B;B;B;B	0.31614	0.059;0.059;0.059;0.098;0.133	T	0.61515	-0.7047	9	.	.	.	.	12.8576	0.57894	0.0:0.8361:0.1639:0.0	.	1423;1430;1426;1432;1436	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	1436;1426;1432;1432;1423;1430	ENSP00000334941:A1436V;ENSP00000362884:A1426V;ENSP00000349333:A1432V;ENSP00000314987:A1432V;ENSP00000392332:A1423V;ENSP00000432906:A1430V	.	A	+	2	0	PTPRU	29524726	0.971000	0.33674	1.000000	0.80357	0.981000	0.71138	2.201000	0.42734	2.087000	0.62958	0.561000	0.74099	GCC		0.622	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			13	72	0	0	0	0	13	72				
PUM1	9698	broad.mit.edu	37	1	31414879	31414879	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:31414879T>A	ENST00000257075.5	-	19	3173	c.3080A>T	c.(3079-3081)gAg>gTg	p.E1027V	PUM1_ENST00000373742.2_Missense_Mutation_p.E968V|PUM1_ENST00000373747.3_Missense_Mutation_p.E1030V|PUM1_ENST00000423018.2_Missense_Mutation_p.E885V|PUM1_ENST00000424085.2_Missense_Mutation_p.E785V|PUM1_ENST00000373741.4_Missense_Mutation_p.E1065V|PUM1_ENST00000426105.2_Missense_Mutation_p.E1029V|PUM1_ENST00000440538.2_Missense_Mutation_p.E1003V	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1027	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GTGAAGCTCCTCTAAAATAGG	0.517																																						uc001bsi.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3079-3081)GAG>GTG		pumilio 1 isoform 2							122.0	117.0	118.0					1																	31414879		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31414879T>A	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3080A>T	1.37:g.31414879T>A	ENSP00000257075:p.Glu1027Val					PUM1_uc001bsf.1_Missense_Mutation_p.E695V|PUM1_uc001bsg.1_Missense_Mutation_p.E761V|PUM1_uc001bsh.1_Missense_Mutation_p.E1029V|PUM1_uc001bsj.1_Missense_Mutation_p.E1003V|PUM1_uc010oga.1_Missense_Mutation_p.E885V|PUM1_uc001bsk.1_Missense_Mutation_p.E1065V|PUM1_uc010ogb.1_Missense_Mutation_p.E968V|SNORD103A_uc009vts.1_Intron	p.E1027V	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	19	3193	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1027			PUM-HD.|Pumilio 5.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.3080A>T	CCDS338.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.25|19.25|19.25	3.790684|3.790684|3.790684	0.70452|0.70452|0.70452	.|.|.	.|.|.	ENSG00000134644|ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419|ENST00000525997	T;T;T;T;T;T;T;T|.|.	0.16324|.|.	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35|.|.	5.53|5.53|5.53	5.53|5.53|5.53	0.82687|0.82687|0.82687	Armadillo-like helical (1);Armadillo-type fold (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.71525|0.71525|0.71525	0.3350|0.3350|0.3350	L|L|L	0.61218|0.61218|0.61218	1.895|1.895|1.895	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;P;B;P;B;B;B;B|.|.	0.40144|.|.	0.262;0.704;0.014;0.674;0.097;0.031;0.097;0.097|.|.	B;B;B;B;B;B;B;B|.|.	0.34722|.|.	0.105;0.104;0.008;0.188;0.034;0.013;0.034;0.034|.|.	T|T|T	0.70561|0.70561|0.70561	-0.4838|-0.4838|-0.4838	10|5|5	0.66056|.|.	D|.|.	0.02|.|.	-9.3863|-9.3863|-9.3863	15.6295|15.6295|15.6295	0.76893|0.76893|0.76893	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	968;885;1065;1003;1027;1029;1030;1029|.|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.|.	.;.;.;.;PUM1_HUMAN;.;.;.|.|.	V|S|W	785;1027;1030;767;1029;1003;1065;885;968|965;740|128	ENSP00000400141:E785V;ENSP00000257075:E1027V;ENSP00000362852:E1030V;ENSP00000391723:E1029V;ENSP00000401777:E1003V;ENSP00000362846:E1065V;ENSP00000399440:E885V;ENSP00000362847:E968V|.|.	ENSP00000257075:E1027V|.|.	E|R|R	-|-|-	2|3|1	0|2|2	PUM1|PUM1|PUM1	31187466|31187466|31187466	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.997000|7.997000|7.997000	0.88414|0.88414|0.88414	2.224000|2.224000|2.224000	0.72417|0.72417|0.72417	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAG|AGA|AGG		0.517	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			27	117	0	0	0	0	27	117				
AGO1	26523	broad.mit.edu	37	1	36367879	36367879	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:36367879C>G	ENST00000373204.4	+	11	1551	c.1338C>G	c.(1336-1338)atC>atG	p.I446M	AGO1_ENST00000373206.1_Missense_Mutation_p.I371M	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	446					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGATTGAGATCAAAGTCTGGG	0.572																																						uc001bzl.2		NA																	0				ovary(2)|skin(1)	3						c.(1336-1338)ATC>ATG		eukaryotic translation initiation factor 2C, 1							109.0	106.0	107.0					1																	36367879		2203	4300	6503	SO:0001583	missense	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36367879C>G	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1338C>G	1.37:g.36367879C>G	ENSP00000362300:p.Ile446Met					EIF2C1_uc001bzk.2_Missense_Mutation_p.I371M|EIF2C1_uc009vuy.2_Intron	p.I446M	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			11	1551	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	446					Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1338C>G	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853814	0.51270	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.08370	3.1;3.1	5.67	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.91872	3.25	0.58432	D	0.999997	B	0.17667	0.023	B	0.40506	0.331	T	0.07462	-1.0771	10	0.54805	T	0.06	-22.2989	13.7383	0.62831	0.2799:0.7201:0.0:0.0	.	446	Q9UL18	AGO1_HUMAN	M	371;446	ENSP00000362302:I371M;ENSP00000362300:I446M	ENSP00000362300:I446M	I	+	3	3	EIF2C1	36140466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.617000	0.36943	1.393000	0.46605	0.655000	0.94253	ATC		0.572	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			4	83	0	0	0	0	4	83				
THRAP3	9967	broad.mit.edu	37	1	36755352	36755352	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:36755352G>A	ENST00000354618.5	+	5	1956	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	THRAP3_ENST00000466743.1_3'UTR|THRAP3_ENST00000469141.2_Missense_Mutation_p.E578K	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	578	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTTTTGATGAGGACCTCGC	0.512			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NA		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(1732-1734)GAG>AAG		thyroid hormone receptor associated protein 3							68.0	68.0	68.0					1																	36755352		2203	4299	6502	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36755352G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1732G>A	1.37:g.36755352G>A	ENSP00000346634:p.Glu578Lys					THRAP3_uc001caf.3_Missense_Mutation_p.E578K|THRAP3_uc001cag.1_Missense_Mutation_p.E578K	p.E578K	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			5	1956	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	578					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1732G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883030	0.72410	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15017	2.46;2.46	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.54323	1.7	0.58432	D	0.999992	P	0.48640	0.913	P	0.49528	0.614	T	0.00167	-1.1964	10	0.30854	T	0.27	-19.5131	19.3088	0.94175	0.0:0.0:1.0:0.0	.	578	Q9Y2W1	TR150_HUMAN	K	578	ENSP00000346634:E578K;ENSP00000433825:E578K	ENSP00000346634:E578K	E	+	1	0	THRAP3	36527939	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.827000	0.86722	2.813000	0.96785	0.561000	0.74099	GAG		0.512	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	48	0	0	0	0	5	48				
PARS2	25973	broad.mit.edu	37	1	55224789	55224789	+	Missense_Mutation	SNP	T	T	A	rs199971599		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:55224789T>A	ENST00000371279.3	-	2	128	c.46A>T	c.(46-48)Acc>Tcc	p.T16S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	16					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CGGCTGCAGGTGGCCAGGGCG	0.597																																						uc001cxy.2		NA																	0				ovary(2)	2						c.(46-48)ACC>TCC		prolyl-tRNA synthetase (mitochondrial)(putative)	L-Proline(DB00172)						22.0	21.0	21.0					1																	55224789		2201	4298	6499	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224789T>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.46A>T	1.37:g.55224789T>A	ENSP00000360327:p.Thr16Ser						p.T16S	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN			2	129	-			16					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.46A>T	CCDS597.1	.	.	.	.	.	.	.	.	.	.	T	0.788	-0.759964	0.03019	.	.	ENSG00000162396	ENST00000371279	T	0.40476	1.03	5.16	-2.41	0.06562	.	1.231740	0.05589	N	0.574275	T	0.25680	0.0625	L	0.38531	1.155	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18209	-1.0344	10	0.09338	T	0.73	-7.0529	3.7489	0.08559	0.2185:0.2691:0.0:0.5124	.	16	Q7L3T8	SYPM_HUMAN	S	16	ENSP00000360327:T16S	ENSP00000360327:T16S	T	-	1	0	PARS2	54997377	0.000000	0.05858	0.843000	0.33291	0.083000	0.17756	-2.216000	0.01221	-0.011000	0.14247	0.482000	0.46254	ACC		0.597	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		5	25	0	0	0	0	5	25				
C8A	731	broad.mit.edu	37	1	57378249	57378249	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:57378249G>T	ENST00000361249.3	+	10	1650	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	518	EGF-like.				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						GCAGGTGCCAGTGCCGCCTGG	0.602																																						uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1552-1554)CAG>CAT		complement component 8, alpha polypeptide							74.0	76.0	75.0					1																	57378249		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378249G>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.1554G>T	1.37:g.57378249G>T	ENSP00000354458:p.Gln518His						p.Q518H	NM_000562	NP_000553	P07357	CO8A_HUMAN			10	1686	+			518			EGF-like.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1554G>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164420	0.57476	.	.	ENSG00000157131	ENST00000361249	D	0.87729	-2.29	5.73	3.73	0.42828	.	0.356408	0.27700	N	0.018205	D	0.86247	0.5887	L	0.38692	1.165	0.35898	D	0.830144	D	0.69078	0.997	P	0.61328	0.887	D	0.84299	0.0504	10	0.14252	T	0.57	-10.1049	9.9289	0.41510	0.0737:0.1377:0.7887:0.0	.	518	P07357	CO8A_HUMAN	H	518	ENSP00000354458:Q518H	ENSP00000354458:Q518H	Q	+	3	2	C8A	57150837	0.998000	0.40836	1.000000	0.80357	0.937000	0.57800	0.592000	0.23984	1.403000	0.46800	0.655000	0.94253	CAG		0.602	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		21	69	1	0	1.5e-11	3.03e-11	21	69				
C1orf141	400757	broad.mit.edu	37	1	67558779	67558779	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:67558779G>C	ENST00000371007.2	-	8	1221	c.1112C>G	c.(1111-1113)tCa>tGa	p.S371*	C1orf141_ENST00000371006.1_Nonsense_Mutation_p.S371*|C1orf141_ENST00000544837.1_Nonsense_Mutation_p.S371*	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	371										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AAAAGGCTTTGAGTAACATTT	0.318																																						uc001ddl.1		NA																	0				ovary(1)	1						c.(1111-1113)TCA>TGA		hypothetical protein LOC400757							87.0	88.0	88.0					1																	67558779		2203	4300	6503	SO:0001587	stop_gained	400757							g.chr1:67558779G>C	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.1112C>G	1.37:g.67558779G>C	ENSP00000360046:p.Ser371*					C1orf141_uc001ddm.1_Nonsense_Mutation_p.S371*|C1orf141_uc001ddn.1_RNA	p.S371*	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			7	1223	-			371					Q0P5P5|Q5JVX5	Nonsense_Mutation	SNP	ENST00000371007.2	37	c.1112C>G	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656321	0.67586	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	.	.	.	4.77	3.85	0.44370	.	0.663319	0.12530	N	0.460899	.	.	.	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.8241	9.4008	0.38431	0.1018:0.0:0.8982:0.0	.	.	.	.	X	371	.	ENSP00000360045:S371X	S	-	2	0	C1orf141	67331367	0.998000	0.40836	0.928000	0.36995	0.036000	0.12997	1.786000	0.38694	1.309000	0.44985	0.650000	0.86243	TCA		0.318	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		8	59	0	0	0	0	8	59				
LRRIQ3	127255	broad.mit.edu	37	1	74507579	74507579	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:74507579C>A	ENST00000395089.1	-	6	1035	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.D346Y			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	346								p.D346Y(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAACTGGTATCCAATTTTTCA	0.308																																						uc001dfy.3		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)	2						c.(1036-1038)GAT>TAT		leucine-rich repeats and IQ motif containing 3							39.0	38.0	38.0					1																	74507579		1813	4056	5869	SO:0001583	missense	127255							g.chr1:74507579C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1036G>T	1.37:g.74507579C>A	ENSP00000378524:p.Asp346Tyr					LRRIQ3_uc001dfz.3_RNA	p.D346Y	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1228	-			346					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1036G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643026	0.47153	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.25414	1.8;1.8	5.62	3.69	0.42338	.	0.551331	0.15164	N	0.276988	T	0.19644	0.0472	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	P	0.59056	0.851	T	0.07271	-1.0781	10	0.72032	D	0.01	.	12.771	0.57421	0.0:0.684:0.316:0.0	.	346	A6PVS8	LRIQ3_HUMAN	Y	346	ENSP00000378524:D346Y;ENSP00000346414:D346Y	ENSP00000346414:D346Y	D	-	1	0	LRRIQ3	74280167	0.006000	0.16342	0.004000	0.12327	0.019000	0.09904	1.073000	0.30691	0.802000	0.34089	0.650000	0.86243	GAT		0.308	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		12	39	1	0	4.37e-10	8.67e-10	12	39				
ERICH3	127254	broad.mit.edu	37	1	75036823	75036823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:75036823G>A	ENST00000326665.5	-	14	4789	c.4571C>T	c.(4570-4572)tCc>tTc	p.S1524F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1524										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTGTTGGGGGAAACATCTGC	0.512																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4570-4572)TCC>TTC		hypothetical protein LOC127254							169.0	165.0	166.0					1																	75036823		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75036823G>A																												ENST00000326665.5:c.4571C>T	1.37:g.75036823G>A	ENSP00000322609:p.Ser1524Phe						p.S1524F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4790	-			1524					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4571C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604018	0.28534	.	.	ENSG00000178965	ENST00000326665	T	0.16073	2.37	4.58	1.4	0.22301	.	.	.	.	.	T	0.04452	0.0122	N	0.14661	0.345	0.09310	N	1	P	0.49635	0.926	P	0.47528	0.549	T	0.22417	-1.0217	9	0.87932	D	0	5.3449	3.745	0.08544	0.2102:0.0:0.5986:0.1912	.	1524	Q5RHP9	CA173_HUMAN	F	1524	ENSP00000322609:S1524F	ENSP00000322609:S1524F	S	-	2	0	C1orf173	74809411	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.257000	0.18369	0.473000	0.27368	0.561000	0.74099	TCC		0.512	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			19	114	0	0	0	0	19	114				
ERICH3	127254	broad.mit.edu	37	1	75037379	75037379	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:75037379C>G	ENST00000326665.5	-	14	4233	c.4015G>C	c.(4015-4017)Gct>Cct	p.A1339P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1339	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACTTCCACAGCCACAACCCTT	0.557																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4015-4017)GCT>CCT		hypothetical protein LOC127254							240.0	226.0	231.0					1																	75037379		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037379C>G																												ENST00000326665.5:c.4015G>C	1.37:g.75037379C>G	ENSP00000322609:p.Ala1339Pro						p.A1339P	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4234	-			1339			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4015G>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364830	0.61513	.	.	ENSG00000178965	ENST00000326665	T	0.17528	2.27	4.41	2.52	0.30459	.	.	.	.	.	T	0.10121	0.0248	N	0.19112	0.55	0.36798	D	0.885196	D	0.58268	0.982	P	0.59546	0.859	T	0.10474	-1.0628	9	0.36615	T	0.2	-1.2514	9.6551	0.39921	0.0:0.8216:0.0:0.1784	.	1339	Q5RHP9	CA173_HUMAN	P	1339	ENSP00000322609:A1339P	ENSP00000322609:A1339P	A	-	1	0	C1orf173	74809967	0.018000	0.18449	0.004000	0.12327	0.036000	0.12997	2.699000	0.47077	0.422000	0.26005	0.561000	0.74099	GCT		0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			29	84	0	0	0	0	29	84				
USP33	23032	broad.mit.edu	37	1	78200086	78200086	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:78200086T>C	ENST00000370793.1	-	8	909	c.563A>G	c.(562-564)aAa>aGa	p.K188R	USP33_ENST00000370794.3_Missense_Mutation_p.K157R|USP33_ENST00000370792.3_Missense_Mutation_p.K188R|USP33_ENST00000357428.1_Missense_Mutation_p.K188R	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	188	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCCAATATTTTTCAAACCTGT	0.264																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NA																	0				lung(2)|ovary(1)	3						c.(562-564)AAA>AGA		ubiquitin specific protease 33 isoform 1							30.0	30.0	30.0					1																	78200086		2200	4287	6487	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78200086T>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.563A>G	1.37:g.78200086T>C	ENSP00000359829:p.Lys188Arg					USP33_uc001dhu.2_Missense_Mutation_p.K157R|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Missense_Mutation_p.K188R	p.K188R	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			8	910	-			188					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.563A>G	CCDS678.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.267739	0.59540	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.55	4.55	0.56014	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	N	0.20483	0.58	0.58432	D	0.999997	P;D	0.60575	0.729;0.988	B;P	0.58266	0.316;0.836	T	0.03503	-1.1030	10	0.19147	T	0.46	.	14.1945	0.65662	0.0:0.0:0.0:1.0	.	188;188	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	R	157;188;188;188;188	ENSP00000359830:K157R;ENSP00000359829:K188R;ENSP00000350009:K188R;ENSP00000359828:K188R;ENSP00000434441:K188R	ENSP00000350009:K188R	K	-	2	0	USP33	77972674	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	1.833000	0.53350	0.477000	0.44152	AAA		0.264	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		5	20	0	0	0	0	5	20				
SPATA1	100505741	broad.mit.edu	37	1	84991680	84991680	+	RNA	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:84991680C>A	ENST00000370638.2	+	0	733							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		TAACTTTGTTCAAGGAGGAAC	0.373																																						uc001djz.1		NA																	0				central_nervous_system(1)	1						c.(532-534)TTC>TTA		spermatogenesis associated 1							38.0	39.0	38.0					1																	84991680		2203	4300	6503			64173							g.chr1:84991680C>A	AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84991680C>A						SPATA1_uc001djx.2_Missense_Mutation_p.F178L|SPATA1_uc001djy.1_RNA	p.F178L	NM_001081472	NP_001074941				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)	6	733	+								A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	Missense_Mutation	SNP	ENST00000370638.2	37	c.534C>A																																																																																					0.373	SPATA1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000314701.1	NM_022354		6	33	1	0	1.13e-05	2.04e-05	6	33				
BCL10	8915	broad.mit.edu	37	1	85733496	85733496	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:85733496C>T	ENST00000370580.1	-	3	1253	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	172					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CAGGCAAATTCAGAGAAGAAT	0.463			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	uc001dkz.2		NA		Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT 		0				lung(2)	2						c.(514-516)CTG>CTA		B-cell CLL/lymphoma 10							96.0	102.0	100.0					1																	85733496		2203	4300	6503	SO:0001819	synonymous_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85733496C>T	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.516G>A	1.37:g.85733496C>T							p.L172L	NM_003921	NP_003912	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	4	1221	-			172					Q5VUF1	Silent	SNP	ENST00000370580.1	37	c.516G>A	CCDS704.1																																																																																				0.463	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		14	55	0	0	0	0	14	55				
HFM1	164045	broad.mit.edu	37	1	91782033	91782033	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:91782033C>A	ENST00000370425.3	-	26	2911	c.2813G>T	c.(2812-2814)gGt>gTt	p.G938V	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Splice_Site_p.G170V|HFM1_ENST00000370424.3_Splice_Site_p.G617V	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	938	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAATGTTATACCTGTGGAAAA	0.239																																						uc001doa.3		NA																	0					0						c.(2812-2814)GGT>GTT		HFM1 protein							71.0	74.0	73.0					1																	91782033		2202	4294	6496	SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91782033C>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2813-1G>T	1.37:g.91782033C>A						HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.G617V|HFM1_uc001dob.3_Missense_Mutation_p.C126F|HFM1_uc010osv.1_Missense_Mutation_p.G622V	p.G938V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	26	2913	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	938			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2813G>T	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.030833|4.030833	0.75504|0.75504	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.61627|.	0.09;0.09;0.09|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Sec63 domain (2);|.	0.000000|.	0.64402|.	U|.	0.000003|.	T|T	0.80788|0.80788	0.4690|0.4690	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.83589|0.83589	0.0122|0.0122	10|5	0.72032|.	D|.	0.01|.	.|.	18.4443|18.4443	0.90678|0.90678	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	617;938|.	A6NGI5;A2PYH4|.	.;HFM1_HUMAN|.	V|L	938;170;617;622|150	ENSP00000359454:G938V;ENSP00000294696:G170V;ENSP00000359453:G617V|.	ENSP00000294696:G170V|.	G|V	-|-	2|1	0|0	HFM1|HFM1	91554621|91554621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	7.021000|7.021000	0.76425|0.76425	2.326000|2.326000	0.78906|0.78906	0.557000|0.557000	0.71058|0.71058	GGT|GTA		0.239	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Missense_Mutation	9	48	1	0	1.13e-05	2.04e-05	9	48				
GCLM	2730	broad.mit.edu	37	1	94354598	94354598	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:94354598C>T	ENST00000370238.3	-	7	1019	c.773G>A	c.(772-774)gGa>gAa	p.G258E		NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	258					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	TTTGATAATTCCTCTACTTTT	0.413																																						uc001dqg.1		NA																	0				ovary(1)	1						c.(772-774)GGA>GAA		glutamate-cysteine ligase regulatory protein	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						135.0	138.0	137.0					1																	94354598		2203	4300	6503	SO:0001583	missense	2730				glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding	g.chr1:94354598C>T	L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.773G>A	1.37:g.94354598C>T	ENSP00000359258:p.Gly258Glu						p.G258E	NM_002061	NP_002052	P48507	GSH0_HUMAN		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	7	1066	-		all_lung(203;0.000815)|Lung NSC(277;0.00363)	258					A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	ENST00000370238.3	37	c.773G>A	CCDS746.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462249	0.84425	.	.	ENSG00000023909	ENST00000370238	T	0.59906	0.23	5.7	4.79	0.61399	.	0.101647	0.64402	N	0.000002	T	0.68274	0.2983	M	0.78456	2.415	0.80722	D	1	D	0.67145	0.996	D	0.66084	0.941	T	0.75048	-0.3455	10	0.87932	D	0	.	14.4405	0.67314	0.0:0.9295:0.0:0.0705	.	258	P48507	GSH0_HUMAN	E	258	ENSP00000359258:G258E	ENSP00000359258:G258E	G	-	2	0	GCLM	94127186	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.334000	0.79224	1.413000	0.46997	0.655000	0.94253	GGA		0.413	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1	NM_002061		5	65	0	0	0	0	5	65				
ARHGAP29	9411	broad.mit.edu	37	1	94650455	94650455	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:94650455C>T	ENST00000260526.6	-	18	2264	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	694	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TATTTTCAATCTCTGAGGCAC	0.323																																						uc001dqj.3		NA																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(2080-2082)GAG>GAA		PTPL1-associated RhoGAP 1							72.0	73.0	73.0					1																	94650455		2201	4299	6500	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94650455C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2082G>A	1.37:g.94650455C>T						ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Silent_p.E260E	p.E694E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	18	2451	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	694			Rho-GAP.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.2082G>A	CCDS748.1																																																																																				0.323	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		6	44	0	0	0	0	6	44				
DBT	1629	broad.mit.edu	37	1	100681578	100681578	+	Missense_Mutation	SNP	G	G	C	rs200339376		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:100681578G>C	ENST00000370132.4	-	6	746	c.733C>G	c.(733-735)Ccg>Gcg	p.P245A	DBT_ENST00000370131.3_Missense_Mutation_p.P245A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	245					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GTGAATACCGGAGGTTTTGAT	0.388																																						uc001dta.2		NA																	0				pancreas(1)	1						c.(733-735)CCG>GCG		dihydrolipoamide branched chain transacylase							236.0	233.0	234.0					1																	100681578		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681578G>C	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.733C>G	1.37:g.100681578G>C	ENSP00000359151:p.Pro245Ala					DBT_uc010oug.1_Missense_Mutation_p.P64A	p.P245A	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	6	766	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	245					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.733C>G	CCDS767.1	.	.	.	.	.	.	.	.	.	.	g	1.625	-0.520411	0.04171	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.32023	1.47;1.47	5.66	-1.18	0.09617	Chloramphenicol acetyltransferase-like domain (1);	0.712173	0.14328	N	0.326549	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.40553	-0.9557	10	0.21014	T	0.42	1.0E-4	3.1045	0.06337	0.1376:0.328:0.3474:0.187	.	64;245	F5H1F9;P11182	.;ODB2_HUMAN	A	64;245;245	ENSP00000359151:P245A;ENSP00000359150:P245A	ENSP00000359150:P245A	P	-	1	0	DBT	100454166	0.057000	0.20700	0.008000	0.14137	0.010000	0.07245	0.227000	0.17795	0.104000	0.17725	-0.150000	0.13652	CCG		0.388	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		18	101	0	0	0	0	18	101				
SLC30A7	148867	broad.mit.edu	37	1	101361893	101361893	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:101361893G>T	ENST00000370112.4	+	1	262	c.75G>T	c.(73-75)tgG>tgT	p.W25C	EXTL2_ENST00000535414.1_5'Flank|EXTL2_ENST00000480774.1_5'Flank|EXTL2_ENST00000370114.3_5'Flank|SLC30A7_ENST00000357650.4_Missense_Mutation_p.W25C|RP4-549L20.3_ENST00000609247.1_RNA|EXTL2_ENST00000370113.3_5'Flank	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	25					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCTCGGGCTGGTTTAGGTGCG	0.587																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2		NA																	0					0						c.(73-75)TGG>TGT		zinc transporter like 2							93.0	92.0	92.0					1																	101361893		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101361893G>T	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.75G>T	1.37:g.101361893G>T	ENSP00000359130:p.Trp25Cys					EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Missense_Mutation_p.W25C	p.W25C	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	1	262	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	25			Cytoplasmic (Potential).		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.75G>T	CCDS776.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303773	0.60305	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.63417	-0.04;-0.04	5.06	5.06	0.68205	.	0.176061	0.56097	D	0.000037	T	0.50326	0.1609	M	0.65498	2.005	0.80722	D	1	B	0.27166	0.17	B	0.20384	0.029	T	0.52779	-0.8530	10	0.39692	T	0.17	-4.6563	18.6247	0.91333	0.0:0.0:1.0:0.0	.	25	Q8NEW0	ZNT7_HUMAN	C	25	ENSP00000359130:W25C;ENSP00000350278:W25C	ENSP00000350278:W25C	W	+	3	0	SLC30A7	101134481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.673000	0.91186	2.612000	0.88384	0.655000	0.94253	TGG		0.587	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		10	63	1	0	0.000673444	0.00114853	10	63				
DDX20	11218	broad.mit.edu	37	1	112304903	112304903	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:112304903G>C	ENST00000369702.4	+	8	1668	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	350	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCGTCTTGATGCTATGGC	0.353																																						uc001ebs.2		NA																	0				lung(1)|kidney(1)	2						c.(1048-1050)GAT>CAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							235.0	219.0	225.0					1																	112304903		2203	4300	6503	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112304903G>C	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1048G>C	1.37:g.112304903G>C	ENSP00000358716:p.Asp350His					DDX20_uc010owf.1_Missense_Mutation_p.D112H|DDX20_uc001ebt.2_5'UTR	p.D350H	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1405	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	350			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1048G>C	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506937	0.85282	.	.	ENSG00000064703	ENST00000369702	T	0.74421	-0.84	5.69	5.69	0.88448	Helicase, C-terminal (3);	0.047911	0.85682	D	0.000000	T	0.64125	0.2570	N	0.16833	0.445	0.80722	D	1	P	0.38788	0.647	P	0.46718	0.525	T	0.70400	-0.4882	10	0.66056	D	0.02	-34.8082	19.776	0.96393	0.0:0.0:1.0:0.0	.	350	Q9UHI6	DDX20_HUMAN	H	350	ENSP00000358716:D350H	ENSP00000358716:D350H	D	+	1	0	DDX20	112106426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.449000	0.80643	2.840000	0.97914	0.655000	0.94253	GAT		0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		4	90	0	0	0	0	4	90				
RSBN1	54665	broad.mit.edu	37	1	114354824	114354824	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:114354824C>G	ENST00000261441.5	-	1	274	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	71						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTCCCCTCTTTGTCCGGC	0.652																																						uc001edq.2		NA																	0				ovary(1)	1						c.(211-213)GAG>CAG		round spermatid basic protein 1							45.0	60.0	55.0					1																	114354824		2199	4299	6498	SO:0001583	missense	54665					nucleus		g.chr1:114354824C>G	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.211G>C	1.37:g.114354824C>G	ENSP00000261441:p.Glu71Gln					RSBN1_uc001edr.2_RNA	p.E71Q	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	247	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	71					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.211G>C	CCDS862.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240448	0.79912	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.63	4.67	0.58626	.	0.265267	0.27130	N	0.020798	T	0.10165	0.0249	N	0.08118	0	0.26195	N	0.979529	B	0.29716	0.255	B	0.32533	0.147	T	0.10989	-1.0606	9	0.66056	D	0.02	-3.571	11.0231	0.47730	0.1854:0.8146:0.0:0.0	.	71	Q5VWQ0	RSBN1_HUMAN	Q	71	.	ENSP00000261441:E71Q	E	-	1	0	RSBN1	114156347	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.845000	0.55880	2.659000	0.90383	0.561000	0.74099	GAG		0.652	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		4	108	0	0	0	0	4	108				
NRAS	4893	broad.mit.edu	37	1	115256551	115256551	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:115256551C>A	ENST00000369535.4	-	3	413	c.160G>T	c.(160-162)Gac>Tac	p.D54Y		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	54					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCAGTATGTCCAACAAACAG	0.458		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.2		50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			melanoma|MM|AML|thyroid		0				haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607						c.(160-162)GAC>TAC		neuroblastoma RAS viral (v-ras) oncogene homolog							167.0	151.0	156.0					1																	115256551		2203	4300	6503	SO:0001583	missense	4893	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	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256551C>A	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.160G>T	1.37:g.115256551C>A	ENSP00000358548:p.Asp54Tyr	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.D54Y	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	414	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	54					Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.160G>T	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841139	0.91197	.	.	ENSG00000213281	ENST00000369535	T	0.77750	-1.12	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000019	D	0.87047	0.6080	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88206	0.2887	10	0.87932	D	0	.	18.6626	0.91477	0.0:1.0:0.0:0.0	.	54	P01111	RASN_HUMAN	Y	54	ENSP00000358548:D54Y	ENSP00000358548:D54Y	D	-	1	0	NRAS	115058074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.547000	0.82146	2.624000	0.88883	0.655000	0.94253	GAC		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		32	97	1	0	4.34e-12	8.82e-12	32	97				
TTF2	8458	broad.mit.edu	37	1	117624455	117624455	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:117624455G>A	ENST00000369466.4	+	10	1833	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	597	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTAGCAGATGATATGGGCTT	0.403																																						uc001egy.2		NA																	0				ovary(1)	1						c.(1789-1791)GAT>AAT		transcription termination factor, RNA polymerase							88.0	87.0	87.0					1																	117624455		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117624455G>A	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1789G>A	1.37:g.117624455G>A	ENSP00000358478:p.Asp597Asn					TTF2_uc001egx.1_Missense_Mutation_p.D597N	p.D597N	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	10	1809	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	597			Helicase ATP-binding.|ATP (Potential).		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.1789G>A	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140843	0.94560	.	.	ENSG00000116830	ENST00000369466	D	0.94330	-3.4	5.66	5.66	0.87406	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.38720	N	0.001592	D	0.98163	0.9393	H	0.98802	4.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99081	1.0837	10	0.72032	D	0.01	-22.8486	15.2416	0.73474	0.0:0.0:1.0:0.0	.	597;597	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	N	597	ENSP00000358478:D597N	ENSP00000358478:D597N	D	+	1	0	TTF2	117425978	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.757000	0.91657	2.668000	0.90789	0.561000	0.74099	GAT		0.403	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			8	43	0	0	0	0	8	43				
TTF2	8458	broad.mit.edu	37	1	117637947	117637947	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:117637947C>G	ENST00000369466.4	+	19	3037	c.2993C>G	c.(2992-2994)gCa>gGa	p.A998G	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	998	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTCTGTTGGCAGAATTGGAG	0.393																																						uc001egy.2		NA																	0				ovary(1)	1						c.(2992-2994)GCA>GGA		transcription termination factor, RNA polymerase							129.0	133.0	132.0					1																	117637947		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117637947C>G	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2993C>G	1.37:g.117637947C>G	ENSP00000358478:p.Ala998Gly						p.A998G	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	19	3013	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	998			Helicase C-terminal.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.2993C>G	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352450	0.41700	.	.	ENSG00000116830	ENST00000369466	T	0.75589	-0.95	4.64	3.69	0.42338	Helicase, C-terminal (1);	0.192351	0.25823	N	0.028063	T	0.41673	0.1169	N	0.25485	0.75	0.34598	D	0.716191	P	0.40144	0.704	B	0.39119	0.291	T	0.29761	-1.0001	10	0.22109	T	0.4	-8.7721	8.0795	0.30737	0.0:0.883:0.0:0.117	.	998	Q9UNY4	TTF2_HUMAN	G	998	ENSP00000358478:A998G	ENSP00000358478:A998G	A	+	2	0	TTF2	117439470	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.199000	0.42715	1.258000	0.44101	0.561000	0.74099	GCA		0.393	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			3	58	0	0	0	0	3	58				
GJA5	2702	broad.mit.edu	37	1	147230503	147230503	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:147230503G>A	ENST00000271348.2	-	2	1005	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.P282S	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	282					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTGCTGAAGGGATTGAAGAAT	0.542																																						uc001eps.1		NA																	0				ovary(1)	1						c.(844-846)CCC>TCC		connexin 40							134.0	135.0	135.0					1																	147230503		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230503G>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.844C>T	1.37:g.147230503G>A	ENSP00000271348:p.Pro282Ser					GJA5_uc001ept.1_Missense_Mutation_p.P282S	p.P282S	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	985	-	all_hematologic(923;0.0276)		282			Cytoplasmic (Potential).		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.844C>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	G	8.870	0.948966	0.18356	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	T;T	0.80738	-1.41;-1.41	5.5	2.52	0.30459	.	0.512898	0.20721	N	0.086913	T	0.45256	0.1333	N	0.25380	0.74	0.41047	D	0.985276	B	0.02656	0.0	B	0.04013	0.001	T	0.25847	-1.0120	10	0.13853	T	0.58	.	7.3302	0.26577	0.068:0.1266:0.6812:0.1243	.	282	P36382	CXA5_HUMAN	S	282	ENSP00000271348:P282S;ENSP00000358240:P282S	ENSP00000271348:P282S	P	-	1	0	GJA5	145697127	1.000000	0.71417	0.138000	0.22173	0.633000	0.38033	4.191000	0.58372	0.247000	0.21414	-0.244000	0.11960	CCC		0.542	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		5	144	0	0	0	0	5	144				
APH1A	51107	broad.mit.edu	37	1	150239858	150239858	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:150239858T>A	ENST00000369109.3	-	4	567	c.379A>T	c.(379-381)Atc>Ttc	p.I127F	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.I57F|APH1A_ENST00000360244.4_Missense_Mutation_p.I127F	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	127					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTGATGATACCGAAGGAG	0.498																																						uc001ety.1		NA																	0				ovary(1)|lung(1)	2						c.(379-381)ATC>TTC		anterior pharynx defective 1 homolog A isoform							92.0	95.0	94.0					1																	150239858		1994	4176	6170	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150239858T>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.379A>T	1.37:g.150239858T>A	ENSP00000358105:p.Ile127Phe					APH1A_uc010pbx.1_Missense_Mutation_p.I57F|APH1A_uc001etz.1_Missense_Mutation_p.I127F|APH1A_uc001eua.1_Missense_Mutation_p.I127F|APH1A_uc010pby.1_Missense_Mutation_p.I70F|APH1A_uc001eub.1_Missense_Mutation_p.I11F|APH1A_uc010pbz.1_Missense_Mutation_p.I11F	p.I127F	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	701	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		127			Helical; Name=4; (Potential).		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.379A>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791801	0.31685	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.09	3.95	0.45737	.	0.120229	0.56097	D	0.000038	T	0.30792	0.0776	M	0.64997	1.995	0.53688	D	0.999971	B;B;B;B;B;B	0.25007	0.001;0.044;0.017;0.035;0.044;0.116	B;B;B;B;B;B	0.31686	0.0;0.025;0.018;0.048;0.081;0.134	T	0.27640	-1.0068	10	0.56958	D	0.05	-11.1678	9.3358	0.38049	0.0:0.0858:0.0:0.9142	.	11;70;57;127;127;127	B4DMX8;B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;.;APH1A_HUMAN	F	127;127;57;70	ENSP00000358105:I127F;ENSP00000353380:I127F;ENSP00000397473:I57F;ENSP00000236017:I70F	ENSP00000236017:I70F	I	-	1	0	APH1A	148506482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	1.051000	0.40369	0.482000	0.46254	ATC		0.498	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		25	37	0	0	0	0	25	37				
TCHHL1	126637	broad.mit.edu	37	1	152059098	152059098	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152059098C>G	ENST00000368806.1	-	3	1124	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	354							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCATAATCCTCAGGTTCACCC	0.418																																						uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(1060-1062)GAG>CAG		trichohyalin-like 1							217.0	207.0	210.0					1																	152059098		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152059098C>G		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1060G>C	1.37:g.152059098C>G	ENSP00000357796:p.Glu354Gln						p.E354Q	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1125	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		354					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1060G>C	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	7.546	0.661777	0.14645	.	.	ENSG00000182898	ENST00000368806	T	0.24723	1.84	4.2	-0.218	0.13142	.	2.060130	0.03030	N	0.151990	T	0.05686	0.0149	L	0.29908	0.895	0.09310	N	1	D	0.54964	0.969	B	0.42959	0.403	T	0.09952	-1.0651	10	0.14252	T	0.57	1.2428	3.5256	0.07759	0.1756:0.5013:0.0:0.3232	.	354	Q5QJ38	TCHL1_HUMAN	Q	354	ENSP00000357796:E354Q	ENSP00000357796:E354Q	E	-	1	0	TCHHL1	150325722	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.311000	0.08124	-0.123000	0.11745	0.549000	0.68633	GAG		0.418	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		33	265	0	0	0	0	33	265				
FLG	2312	broad.mit.edu	37	1	152278665	152278665	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152278665T>C	ENST00000368799.1	-	3	8732	c.8697A>G	c.(8695-8697)ggA>ggG	p.G2899G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2899	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)			CTTCTGAATGTCCCTCACTGT	0.567									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8695-8697)GGA>GGG		filaggrin							115.0	186.0	163.0					1																	152278665		2030	4296	6326	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278665T>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.8697A>G	1.37:g.152278665T>C							p.G2899G	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8733	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2899			Ser-rich.|Filaggrin 17.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8697A>G	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	484	0	0	0	0	12	484				
FLG	2312	broad.mit.edu	37	1	152284282	152284282	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152284282G>C	ENST00000368799.1	-	3	3115	c.3080C>G	c.(3079-3081)tCa>tGa	p.S1027*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1027	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)			TCCTGGACTTGATCTTGCCTG	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3079-3081)TCA>TGA		filaggrin							361.0	359.0	360.0					1																	152284282		2203	4300	6503	SO:0001587	stop_gained	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.chr1:152284282G>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.3080C>G	1.37:g.152284282G>C	ENSP00000357789:p.Ser1027*					uc001ezv.2_5'Flank	p.S1027*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3116	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1027			Filaggrin 6.|Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3080C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.201770	0.97371	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	.	.	.	3.55	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.9429	0.19203	0.0:0.2134:0.5668:0.2198	.	.	.	.	X	1027;234	.	ENSP00000357789:S1027X	S	-	2	0	FLG	150550906	0.013000	0.17824	0.000000	0.03702	0.023000	0.10783	2.254000	0.43214	0.171000	0.19730	0.299000	0.19835	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		202	432	0	0	0	0	202	432				
FLG2	388698	broad.mit.edu	37	1	152324389	152324389	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152324389T>G	ENST00000388718.5	-	3	5945	c.5873A>C	c.(5872-5874)tAc>tCc	p.Y1958S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1958					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTCACTGTACTCACTGTG	0.527																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5872-5874)TAC>TCC		filaggrin family member 2							334.0	314.0	320.0					1																	152324389		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324389T>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5873A>C	1.37:g.152324389T>G	ENSP00000373370:p.Tyr1958Ser					uc001ezv.2_Intron	p.Y1958S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5946	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1958			Filaggrin 8.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5873A>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.476609	0.01035	.	.	ENSG00000143520	ENST00000388718	T	0.22539	1.95	4.13	2.18	0.27775	.	.	.	.	.	T	0.01730	0.0055	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47947	-0.9077	9	0.07175	T	0.84	1.0E-4	9.3591	0.38184	0.0:0.0:0.6312:0.3688	.	1958	Q5D862	FILA2_HUMAN	S	1958	ENSP00000373370:Y1958S	ENSP00000373370:Y1958S	Y	-	2	0	FLG2	150591013	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	0.411000	0.21115	0.500000	0.27991	-0.963000	0.02626	TAC		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	402	0	0	0	0	4	402				
LCE4A	199834	broad.mit.edu	37	1	152681605	152681605	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:152681605C>A	ENST00000368777.1	+	2	310	c.54C>A	c.(52-54)atC>atA	p.I18I	LCE4A_ENST00000335535.3_Silent_p.I18I			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	18	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			AGTGTCCTATCCCCAAGTATC	0.517																																						uc001fak.2		NA																	0					0						c.(52-54)ATC>ATA		late cornified envelope 4A							114.0	125.0	121.0					1																	152681605		2203	4300	6503	SO:0001819	synonymous_variant	199834				keratinization			g.chr1:152681605C>A	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.54C>A	1.37:g.152681605C>A							p.I18I	NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		1	83	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		18			Cys-rich.		Q14D97	Silent	SNP	ENST00000368777.1	37	c.54C>A	CCDS1022.1																																																																																				0.517	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		24	153	1	0	5.45e-15	1.14e-14	24	153				
SPRR1B	6699	broad.mit.edu	37	1	153004978	153004978	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:153004978G>A	ENST00000307098.4	+	2	222	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	SPRR1B_ENST00000392661.3_Splice_Site	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	53	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCCCAAAGTGCCCGAGCC	0.632																																						uc001fba.2		NA																	1	Deletion - In frame(1)		ovary(1)	ovary(1)	1						c.(157-159)GTG>ATG		small proline-rich protein 1B							115.0	115.0	115.0					1																	153004978		2203	4298	6501	SO:0001583	missense	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153004978G>A	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.157G>A	1.37:g.153004978G>A	ENSP00000306461:p.Val53Met					SPRR1B_uc009wnx.1_Splice_Site	p.V53M	NM_003125	NP_003116	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	221	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		53			6 X 8 AA approximate tandem repeats.|3.		B2R5H7|P22529|P22530|Q5T524	Missense_Mutation	SNP	ENST00000307098.4	37	c.157G>A	CCDS30863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.640485|1.640485	0.29157|0.29157	.|.	.|.	ENSG00000169469|ENSG00000169469	ENST00000392661|ENST00000307098	.|T	.|0.18016	.|2.24	4.65|4.65	-0.051|-0.051	0.13828|0.13828	.|.	.|.	.|.	.|.	.|.	.|T	.|0.16811	.|0.0404	.|.	.|.	.|.	0.40044|0.40044	D|D	0.975691|0.975691	.|D	.|0.64830	.|0.994	.|P	.|0.61397	.|0.888	.|T	.|0.13548	.|-1.0505	.|8	.|0.62326	.|D	.|0.03	.|0.1976	3.5742|3.5742	0.07929|0.07929	0.2062:0.0:0.417:0.3768|0.2062:0.0:0.417:0.3768	.|.	.|53	.|P22528	.|SPR1B_HUMAN	.|M	-1|53	.|ENSP00000306461:V53M	.|ENSP00000306461:V53M	.|V	+|+	.|1	.|0	SPRR1B|SPRR1B	151271602|151271602	0.004000|0.004000	0.15560|0.15560	0.659000|0.659000	0.29680|0.29680	0.839000|0.839000	0.47603|0.47603	0.351000|0.351000	0.20096|0.20096	0.346000|0.346000	0.23899|0.23899	0.655000|0.655000	0.94253|0.94253	.|GTG		0.632	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		19	177	0	0	0	0	19	177				
CRTC2	200186	broad.mit.edu	37	1	153926054	153926054	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:153926054C>G	ENST00000368633.1	-	5	590	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	155					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCCCTTCTCTGCAGGGAAA	0.517																																						uc010ped.1		NA																	0				ovary(2)	2						c.(463-465)GAG>CAG		CREB regulated transcription coactivator 2							69.0	56.0	61.0					1																	153926054		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153926054C>G	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.463G>C	1.37:g.153926054C>G	ENSP00000357622:p.Glu155Gln					CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR	p.E155Q	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	533	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		155					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.463G>C	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472617	0.84640	.	.	ENSG00000160741	ENST00000368633	T	0.15256	2.44	4.56	4.56	0.56223	.	0.061993	0.64402	D	0.000005	T	0.19167	0.0460	L	0.43923	1.385	0.41993	D	0.990858	D	0.63880	0.993	P	0.55923	0.787	T	0.00645	-1.1629	10	0.66056	D	0.02	-16.3182	15.1957	0.73084	0.0:1.0:0.0:0.0	.	155	Q53ET0	CRTC2_HUMAN	Q	155	ENSP00000357622:E155Q	ENSP00000357622:E155Q	E	-	1	0	CRTC2	152192678	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.500000	0.66943	2.533000	0.85409	0.455000	0.32223	GAG		0.517	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		4	40	0	0	0	0	4	40				
GBA	2629	broad.mit.edu	37	1	155209413	155209413	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:155209413C>T	ENST00000327247.5	-	5	680	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	GBA_ENST00000536770.1_Intron|GBA_ENST00000427500.3_Intron|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.E150K|GBA_ENST00000428024.3_Missense_Mutation_p.E63K	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	150					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	TCACCTTCTTCAGAGAAGTAC	0.428									Gaucher disease type I																													uc001fjh.2		NA																	0				ovary(1)|skin(1)	2	GRCh37	CM065220	GBA	M		c.(448-450)GAA>AAA		glucocerebrosidase precursor	Alglucerase(DB00088)|Imiglucerase(DB00053)						62.0	61.0	61.0					1																	155209413		2203	4300	6503	SO:0001583	missense	2629	Gaucher_disease_type_I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155209413C>T	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.448G>A	1.37:g.155209413C>T	ENSP00000314508:p.Glu150Lys					RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Intron|GBA_uc010pfx.1_Intron|GBA_uc001fji.2_Missense_Mutation_p.E150K|GBA_uc001fjj.2_Missense_Mutation_p.E150K|GBA_uc001fjk.2_Missense_Mutation_p.E150K|GBA_uc001fjl.2_Missense_Mutation_p.E150K|GBA_uc010pfy.1_Missense_Mutation_p.E63K|GBA_uc009wqk.1_Missense_Mutation_p.E63K	p.E150K	NM_000157	NP_000148	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	598	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		150					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.448G>A	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	2.950	-0.216896	0.06101	.	.	ENSG00000177628	ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536555;ENST00000402928	D;D;D	0.99353	-5.77;-5.77;-5.77	3.25	0.297	0.15762	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.575840	0.03892	N	0.278920	D	0.91597	0.7345	N	0.20445	0.575	0.19575	N	0.999965	B	0.02656	0.0	B	0.04013	0.001	D	0.93039	0.6455	10	0.09084	T	0.74	.	2.4673	0.04555	0.0:0.3807:0.2844:0.335	.	150	P04062	GLCM_HUMAN	K	63;150;150;107;135	ENSP00000397986:E63K;ENSP00000357357:E150K;ENSP00000314508:E150K	ENSP00000314508:E150K	E	-	1	0	GBA	153476037	0.572000	0.26668	0.923000	0.36655	0.698000	0.40448	0.779000	0.26746	0.408000	0.25621	0.205000	0.17691	GAA		0.428	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		8	44	0	0	0	0	8	44				
ARHGEF2	9181	broad.mit.edu	37	1	155924708	155924708	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:155924708G>A	ENST00000361247.4	-	14	1867	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L	ARHGEF2_ENST00000368316.1_Silent_p.L562L|ARHGEF2_ENST00000462460.2_Silent_p.L635L|ARHGEF2_ENST00000368315.4_Silent_p.L591L|ARHGEF2_ENST00000313695.7_Silent_p.L562L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Silent_p.L589L	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	590					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATTCGCCGCAGGTAAGCCTCA	0.453																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2		NA																	0				ovary(1)	1						c.(1768-1770)CTG>TTG		Rho/Rac guanine nucleotide exchange factor 2							123.0	119.0	120.0					1																	155924708		2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155924708G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1768C>T	1.37:g.155924708G>A						ARHGEF2_uc001fmr.2_Silent_p.L562L|ARHGEF2_uc001fms.2_Silent_p.L589L|ARHGEF2_uc001fmu.2_Silent_p.L634L	p.L590L	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			14	1886	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		590			Potential.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.1768C>T	CCDS53376.1																																																																																				0.453	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		35	80	0	0	0	0	35	80				
FCRL4	83417	broad.mit.edu	37	1	157545497	157545497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:157545497C>A	ENST00000271532.1	-	11	1588	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	485					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACCTTATCCTCTAGAAGTGTC	0.458																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1453-1455)GAG>TAG		Fc receptor-like 4 precursor							237.0	216.0	223.0					1																	157545497		2203	4300	6503	SO:0001587	stop_gained	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157545497C>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1453G>T	1.37:g.157545497C>A	ENSP00000271532:p.Glu485*					FCRL4_uc010phy.1_RNA	p.E485*	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			11	1589	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	485			Cytoplasmic (Potential).		Q96PJ3|Q96RE0	Nonsense_Mutation	SNP	ENST00000271532.1	37	c.1453G>T	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679827	0.68042	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.35	3.43	0.39272	.	0.559080	0.13813	N	0.361000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	8.3833	0.32486	0.0:0.8914:0.0:0.1086	.	.	.	.	X	485	.	ENSP00000271532:E485X	E	-	1	0	FCRL4	155812121	0.009000	0.17119	0.060000	0.19600	0.177000	0.22998	0.813000	0.27225	1.013000	0.39391	0.563000	0.77884	GAG		0.458	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		37	86	1	0	7.53e-24	1.62e-23	37	86				
FCRL4	83417	broad.mit.edu	37	1	157556230	157556230	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:157556230C>G	ENST00000271532.1	-	6	998	c.863G>C	c.(862-864)gGg>gCg	p.G288A	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	288	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAGGAGCACCCCAGACACAGG	0.602																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(862-864)GGG>GCG		Fc receptor-like 4 precursor							43.0	45.0	44.0					1																	157556230		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157556230C>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.863G>C	1.37:g.157556230C>G	ENSP00000271532:p.Gly288Ala					FCRL4_uc010phy.1_RNA	p.G288A	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			6	999	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	288			Ig-like C2-type 4.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.863G>C	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055386	0.36277	.	.	ENSG00000163518	ENST00000271532	T	0.18960	2.18	4.12	0.613	0.17597	Immunoglobulin-like (1);	1.112870	0.07178	N	0.853583	T	0.10637	0.0260	M	0.76170	2.325	0.09310	N	1	P	0.51351	0.944	P	0.49752	0.621	T	0.17684	-1.0361	10	0.08837	T	0.75	.	3.1012	0.06327	0.0:0.4453:0.2264:0.3283	.	288	Q96PJ5	FCRL4_HUMAN	A	288	ENSP00000271532:G288A	ENSP00000271532:G288A	G	-	2	0	FCRL4	155822854	0.000000	0.05858	0.083000	0.20561	0.694000	0.40290	-0.001000	0.12947	-0.026000	0.13895	0.467000	0.42956	GGG		0.602	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		25	60	0	0	0	0	25	60				
CD1D	912	broad.mit.edu	37	1	158153926	158153926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158153926C>T	ENST00000368171.3	+	7	1493	c.994C>T	c.(994-996)Cag>Tag	p.Q332*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	332					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGTTCCTATCAGGGCGTCCT	0.512																																						uc001frr.2		NA																	0				ovary(1)	1						c.(994-996)CAG>TAG		CD1D antigen precursor							220.0	204.0	209.0					1																	158153926		2203	4300	6503	SO:0001587	stop_gained	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158153926C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.994C>T	1.37:g.158153926C>T	ENSP00000357153:p.Gln332*					CD1D_uc009wss.2_Nonsense_Mutation_p.Q239*	p.Q332*	NM_001766	NP_001757	P15813	CD1D_HUMAN			7	1493	+	all_hematologic(112;0.0378)		332			Cytoplasmic (Potential).|Internalization signal.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Nonsense_Mutation	SNP	ENST00000368171.3	37	c.994C>T	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	36	5.648327	0.96714	.	.	ENSG00000158473	ENST00000368171	.	.	.	3.87	-2.24	0.06909	.	0.750393	0.11467	N	0.561170	.	.	.	.	.	.	0.24271	N	0.995245	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	0.2874	10.6025	0.45375	0.137:0.2718:0.5912:0.0	.	.	.	.	X	332	.	ENSP00000357153:Q332X	Q	+	1	0	CD1D	156420550	0.131000	0.22433	0.001000	0.08648	0.011000	0.07611	0.178000	0.16820	-0.374000	0.07967	-0.188000	0.12872	CAG		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		8	136	0	0	0	0	8	136				
OR6N2	81442	broad.mit.edu	37	1	158746552	158746552	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158746552G>T	ENST00000339258.1	-	1	873	c.874C>A	c.(874-876)Ctt>Att	p.L292I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTGTTACGAAGACTGTAGATA	0.418																																						uc010pir.1		NA																	0					0						c.(874-876)CTT>ATT		olfactory receptor, family 6, subfamily N,							172.0	161.0	165.0					1																	158746552		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746552G>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.874C>A	1.37:g.158746552G>T	ENSP00000344101:p.Leu292Ile						p.L292I	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	874	-	all_hematologic(112;0.0378)		292			Helical; Name=7; (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.874C>A	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832839	0.71258	.	.	ENSG00000188340	ENST00000339258	T	0.44881	0.91	4.64	4.64	0.57946	.	0.000000	0.32015	N	0.006708	T	0.30355	0.0762	L	0.32530	0.975	0.39370	D	0.96606	D	0.59767	0.986	P	0.51833	0.681	T	0.17868	-1.0355	10	0.87932	D	0	-11.9336	10.6582	0.45688	0.0931:0.0:0.9069:0.0	.	292	Q8NGY6	OR6N2_HUMAN	I	292	ENSP00000344101:L292I	ENSP00000344101:L292I	L	-	1	0	OR6N2	157013176	0.936000	0.31750	1.000000	0.80357	0.992000	0.81027	1.313000	0.33585	2.381000	0.81170	0.650000	0.86243	CTT		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			27	86	1	0	1.56e-20	3.32e-20	27	86				
OR6N2	81442	broad.mit.edu	37	1	158746962	158746962	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158746962C>A	ENST00000339258.1	-	1	463	c.464G>T	c.(463-465)tGt>tTt	p.C155F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGAAATGGGACACAGGAAGCC	0.498																																						uc010pir.1		NA																	0					0						c.(463-465)TGT>TTT		olfactory receptor, family 6, subfamily N,							71.0	73.0	72.0					1																	158746962		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746962C>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.464G>T	1.37:g.158746962C>A	ENSP00000344101:p.Cys155Phe						p.C155F	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	464	-	all_hematologic(112;0.0378)		155			Helical; Name=4; (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.464G>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	3.030	-0.199893	0.06219	.	.	ENSG00000188340	ENST00000339258	T	0.34859	1.34	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000831	T	0.14013	0.0339	N	0.05467	-0.045	0.20196	N	0.999921	D	0.62365	0.991	P	0.61070	0.883	T	0.07829	-1.0752	10	0.10111	T	0.7	-11.9507	7.1679	0.25702	0.0:0.7369:0.1736:0.0894	.	155	Q8NGY6	OR6N2_HUMAN	F	155	ENSP00000344101:C155F	ENSP00000344101:C155F	C	-	2	0	OR6N2	157013586	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.392000	0.07314	2.630000	0.89119	0.650000	0.86243	TGT		0.498	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			18	69	1	0	8.34e-07	1.56e-06	18	69				
MNDA	4332	broad.mit.edu	37	1	158812150	158812150	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:158812150C>A	ENST00000368141.4	+	2	468	c.207C>A	c.(205-207)gcC>gcA	p.A69A	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	69	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAGAACTTGCCAAAGATATGC	0.358																																						uc001fsz.1		NA																	0				ovary(2)|skin(2)	4						c.(205-207)GCC>GCA		myeloid cell nuclear differentiation antigen							111.0	120.0	117.0					1																	158812150		2202	4300	6502	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158812150C>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.207C>A	1.37:g.158812150C>A							p.A69A	NM_002432	NP_002423	P41218	MNDA_HUMAN			2	407	+	all_hematologic(112;0.0378)		69			DAPIN.			Silent	SNP	ENST00000368141.4	37	c.207C>A	CCDS1177.1																																																																																				0.358	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		31	74	1	0	5.6e-13	1.16e-12	31	74				
OR10J1	26476	broad.mit.edu	37	1	159410397	159410397	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:159410397G>C	ENST00000423932.3	+	1	886	c.849G>C	c.(847-849)ctG>ctC	p.L283L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	283					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGACCAGCTGATCTCGGTGA	0.522																																						uc010piv.1		NA																	0				ovary(1)	1						c.(847-849)CTG>CTC		olfactory receptor, family 10, subfamily J,							166.0	134.0	145.0					1																	159410397		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410397G>C	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.849G>C	1.37:g.159410397G>C						uc001fts.3_Intron	p.L283L	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	849	+	all_hematologic(112;0.0429)		283			Helical; Name=7; (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.849G>C	CCDS1185.1																																																																																				0.522	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		22	88	0	0	0	0	22	88				
ATP1A2	477	broad.mit.edu	37	1	160098579	160098579	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:160098579C>A	ENST00000361216.3	+	9	1244	c.1155C>A	c.(1153-1155)acC>acA	p.T385T	ATP1A2_ENST00000392233.3_Silent_p.T385T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	385					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACCGCATGACCGTCGCCCACA	0.592																																						uc001fvc.2		NA																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(1153-1155)ACC>ACA		Na+/K+ -ATPase alpha 2 subunit proprotein							122.0	97.0	106.0					1																	160098579		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098579C>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1155C>A	1.37:g.160098579C>A						ATP1A2_uc001fvb.2_Silent_p.T385T|ATP1A2_uc010piz.1_Silent_p.T230T|ATP1A2_uc001fvd.2_Silent_p.T121T|ATP1A2_uc009wtg.1_Silent_p.T73T	p.T385T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1287	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		385			Cytoplasmic (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1155C>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	5.931	0.355752	0.11239	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	-9.55	0.00569	.	.	.	.	.	T	0.14184	0.0343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53648	-0.8409	4	.	.	.	.	1.6427	0.02756	0.206:0.1748:0.1751:0.4441	.	.	.	.	Q	96	.	.	P	+	2	0	ATP1A2	158365203	0.000000	0.05858	0.005000	0.12908	0.778000	0.44026	-6.340000	0.00070	-4.474000	0.00047	-2.127000	0.00345	CCG		0.592	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		32	84	1	0	2.68e-12	5.48e-12	32	84				
NUF2	83540	broad.mit.edu	37	1	163317670	163317670	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:163317670C>A	ENST00000271452.3	+	12	1345	c.1066C>A	c.(1066-1068)Caa>Aaa	p.Q356K	NUF2_ENST00000367900.3_Missense_Mutation_p.Q356K|NUF2_ENST00000524800.1_Missense_Mutation_p.Q309K	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	356	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGCCACAGCACAATTCAAAAT	0.323																																						uc001gcq.1		NA																	0				ovary(3)|skin(1)	4						c.(1066-1068)CAA>AAA		NUF2, NDC80 kinetochore complex component							85.0	83.0	84.0					1																	163317670		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317670C>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1066C>A	1.37:g.163317670C>A	ENSP00000271452:p.Gln356Lys					NUF2_uc001gcr.1_Missense_Mutation_p.Q356K|NUF2_uc009wvc.1_Missense_Mutation_p.Q309K	p.Q356K	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			12	1366	+	all_hematologic(923;0.101)		356			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.1066C>A	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882348	0.33255	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.33438	1.58;1.41;1.41	6.03	6.03	0.97812	.	0.330602	0.36740	N	0.002426	T	0.11067	0.0270	L	0.40543	1.245	0.29822	N	0.830741	B;B	0.30406	0.146;0.278	B;B	0.24974	0.057;0.057	T	0.06232	-1.0838	9	0.12103	T	0.63	-13.15	12.9695	0.58505	0.1614:0.8386:0.0:0.0	.	309;356	E9PQC4;Q9BZD4	.;NUF2_HUMAN	K	309;356;356	ENSP00000436888:Q309K;ENSP00000356875:Q356K;ENSP00000271452:Q356K	ENSP00000271452:Q356K	Q	+	1	0	NUF2	161584294	0.013000	0.17824	0.371000	0.25978	0.936000	0.57629	1.481000	0.35476	2.854000	0.98071	0.655000	0.94253	CAA		0.323	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		5	19	1	0	0.000602214	0.0010302	5	19				
DUSP27	92235	broad.mit.edu	37	1	167095719	167095719	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:167095719C>T	ENST00000361200.2	+	6	1517	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	DUSP27_ENST00000271385.5_Silent_p.L451L|DUSP27_ENST00000443333.1_Silent_p.L451L|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	451					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						CATCTGGGTCCTGAAGCAGCA	0.697																																						uc001geb.1		NA																	0				ovary(3)	3						c.(1351-1353)CTG>TTG		dual specificity phosphatase 27							14.0	14.0	14.0					1																	167095719		2197	4298	6495	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095719C>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.1351C>T	1.37:g.167095719C>T							p.L451L	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1351	+			451					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1351C>T	CCDS30932.1																																																																																				0.697	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	8	0	0	0	0	5	8				
MROH9	80133	broad.mit.edu	37	1	170961323	170961323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:170961323G>A	ENST00000367758.3	+	12	1146	c.1047G>A	c.(1045-1047)tgG>tgA	p.W349*	MROH9_ENST00000367759.4_Nonsense_Mutation_p.W349*	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	349																	TACAGATGTGGAAGGCGGCAT	0.478																																						uc001ghg.2		NA																	0				pancreas(1)	1						c.(1045-1047)TGG>TGA		hypothetical protein LOC80133 isoform 2							79.0	78.0	78.0					1																	170961323		2004	4181	6185	SO:0001587	stop_gained	80133						binding	g.chr1:170961323G>A	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1047G>A	1.37:g.170961323G>A	ENSP00000356732:p.Trp349*					C1orf129_uc009wvy.2_Nonsense_Mutation_p.W156*|C1orf129_uc010plz.1_Nonsense_Mutation_p.W349*	p.W349*	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			12	1177	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		349					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Nonsense_Mutation	SNP	ENST00000367758.3	37	c.1047G>A	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	37	6.241139	0.97403	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	5.61	5.61	0.85477	.	0.112267	0.41294	D	0.000905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4321	15.1289	0.72503	0.0:0.0:1.0:0.0	.	.	.	.	X	349	.	ENSP00000356732:W349X	W	+	3	0	C1orf129	169227947	1.000000	0.71417	0.999000	0.59377	0.158000	0.22134	4.489000	0.60309	2.644000	0.89710	0.591000	0.81541	TGG		0.478	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		5	41	0	0	0	0	5	41				
FMO4	2329	broad.mit.edu	37	1	171293343	171293343	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:171293343G>A	ENST00000367749.3	+	5	718	c.388G>A	c.(388-390)Gag>Aag	p.E130K	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	130					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTTGTCACAGAGACAGAGGG	0.458																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NA																	0				kidney(2)|skin(1)	3						c.(388-390)GAG>AAG		flavin containing monooxygenase 4							451.0	423.0	432.0					1																	171293343		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171293343G>A	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.388G>A	1.37:g.171293343G>A	ENSP00000356723:p.Glu130Lys						p.E130K	NM_002022	NP_002013	P31512	FMO4_HUMAN			5	605	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		130					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.388G>A	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213922	0.95104	.	.	ENSG00000076258	ENST00000367749	T	0.59224	0.28	5.93	5.93	0.95920	.	0.183835	0.49916	D	0.000121	T	0.57446	0.2054	L	0.53249	1.67	0.47476	D	0.999439	B	0.33345	0.409	P	0.44811	0.461	T	0.56914	-0.7900	10	0.48119	T	0.1	-14.1954	19.9457	0.97181	0.0:0.0:1.0:0.0	.	130	P31512	FMO4_HUMAN	K	130	ENSP00000356723:E130K	ENSP00000356723:E130K	E	+	1	0	FMO4	169559967	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.256000	0.72473	2.808000	0.96608	0.655000	0.94253	GAG		0.458	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		33	401	0	0	0	0	33	401				
RC3H1	149041	broad.mit.edu	37	1	173934113	173934113	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:173934113G>C	ENST00000367696.2	-	10	1831	c.1480C>G	c.(1480-1482)Cca>Gca	p.P494A	RC3H1_ENST00000258349.4_Missense_Mutation_p.P494A|RC3H1_ENST00000367694.2_Missense_Mutation_p.P494A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	494					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATTCCATTTGGCAGAGCAGGA	0.478																																						uc001gju.3		NA																	0				ovary(2)	2						c.(1480-1482)CCA>GCA		roquin							151.0	138.0	142.0					1																	173934113		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173934113G>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1480C>G	1.37:g.173934113G>C	ENSP00000356669:p.Pro494Ala					RC3H1_uc010pms.1_Missense_Mutation_p.P494A|RC3H1_uc001gjv.2_Missense_Mutation_p.P494A|RC3H1_uc010pmt.1_Missense_Mutation_p.P494A	p.P494A	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			9	1567	-			494					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1480C>G	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484814	0.44147	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.41065	1.01;1.01;1.01	5.69	5.69	0.88448	.	0.194634	0.56097	D	0.000032	T	0.41073	0.1143	L	0.44542	1.39	0.58432	D	0.999999	B;B;B;B	0.17667	0.013;0.013;0.023;0.013	B;B;B;B	0.11329	0.002;0.004;0.006;0.002	T	0.14227	-1.0480	10	0.46703	T	0.11	-11.3163	19.8119	0.96549	0.0:0.0:1.0:0.0	.	494;494;494;494	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	A	494	ENSP00000356669:P494A;ENSP00000258349:P494A;ENSP00000356667:P494A	ENSP00000258349:P494A	P	-	1	0	RC3H1	172200736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.433000	0.59929	2.664000	0.90586	0.655000	0.94253	CCA		0.478	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		34	87	0	0	0	0	34	87				
PAPPA2	60676	broad.mit.edu	37	1	176640191	176640191	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:176640191C>G	ENST00000367662.3	+	4	3241	c.2077C>G	c.(2077-2079)Cgg>Ggg	p.R693G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R693G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	693	Metalloprotease.				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						CAGCTCAGTGCGGGAAGACCT	0.507																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2077-2079)CGG>GGG		pappalysin 2 isoform 1							117.0	115.0	116.0					1																	176640191		1994	4174	6168	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640191C>G	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.2077C>G	1.37:g.176640191C>G	ENSP00000356634:p.Arg693Gly					PAPPA2_uc001gky.1_Missense_Mutation_p.R693G|PAPPA2_uc009www.2_RNA	p.R693G	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			4	3241	+			693			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2077C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508416	0.27036	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.79454	-1.27;1.57	5.67	1.45	0.22620	Peptidase M43, pregnancy-associated plasma-A (1);	0.059237	0.64402	D	0.000002	T	0.57607	0.2065	N	0.11106	0.095	0.20975	N	0.999819	B;B	0.23128	0.022;0.08	B;B	0.26310	0.025;0.068	T	0.46498	-0.9187	10	0.33141	T	0.24	-10.4107	10.0745	0.42351	0.3438:0.3206:0.3356:0.0	.	693;693	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	G	693	ENSP00000356634:R693G;ENSP00000356633:R693G	ENSP00000356633:R693G	R	+	1	2	PAPPA2	174906814	0.802000	0.28943	0.034000	0.17996	0.834000	0.47266	1.421000	0.34815	0.002000	0.14630	-0.175000	0.13238	CGG		0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			63	148	0	0	0	0	63	148				
ABL2	27	broad.mit.edu	37	1	179084079	179084079	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:179084079C>T	ENST00000502732.1	-	9	1698	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	ABL2_ENST00000344730.3_Missense_Mutation_p.E484K|ABL2_ENST00000408940.3_Missense_Mutation_p.E463K|ABL2_ENST00000512653.1_Missense_Mutation_p.E484K|ABL2_ENST00000392043.3_Missense_Mutation_p.E478K|ABL2_ENST00000367623.4_Missense_Mutation_p.E478K|ABL2_ENST00000507173.1_Missense_Mutation_p.E478K|ABL2_ENST00000504405.1_Missense_Mutation_p.E463K|ABL2_ENST00000511413.1_Missense_Mutation_p.E499K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	499	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TATCCTTTTTCTAGTAGGTCA	0.408			T	ETV6	AML																																	uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1495-1497)GAA>AAA		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						122.0	123.0	122.0					1																	179084079		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084079C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1495G>A	1.37:g.179084079C>T	ENSP00000427562:p.Glu499Lys					ABL2_uc010pnf.1_Missense_Mutation_p.E499K|ABL2_uc010png.1_Missense_Mutation_p.E478K|ABL2_uc010pnh.1_Missense_Mutation_p.E478K|ABL2_uc009wxe.2_Missense_Mutation_p.E478K|ABL2_uc001gmg.3_Missense_Mutation_p.E484K|ABL2_uc001gmi.3_Missense_Mutation_p.E484K|ABL2_uc001gmh.3_Missense_Mutation_p.E463K|ABL2_uc010pne.1_Missense_Mutation_p.E463K	p.E499K	NM_007314	NP_009298	P42684	ABL2_HUMAN			9	1782	-			499			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1495G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430649	0.83776	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.99	5.99	0.97316	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000060	D	0.85635	0.5742	N	0.17474	0.49	0.80722	D	1	D;P;P;D;P;D;D;D;D	0.69078	0.997;0.938;0.938;0.982;0.823;0.971;0.991;0.971;0.964	D;P;P;P;P;D;P;D;P	0.79108	0.992;0.769;0.769;0.862;0.727;0.938;0.873;0.938;0.862	D	0.87493	0.2428	10	0.87932	D	0	.	19.4456	0.94845	0.0:1.0:0.0:0.0	.	478;478;499;463;478;499;484;463;484	P42684-6;P42684-7;P42684-5;P42684-4;P42684-8;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;ABL2_HUMAN;.;.;.	K	499;463;484;484;463;478;478;499;478	ENSP00000427562:E499K;ENSP00000386152:E463K;ENSP00000339209:E484K;ENSP00000423578:E484K;ENSP00000426831:E463K;ENSP00000356595:E478K;ENSP00000423413:E478K;ENSP00000424697:E499K;ENSP00000375897:E478K	ENSP00000339209:E484K	E	-	1	0	ABL2	177350702	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.760000	0.85248	2.843000	0.97960	0.591000	0.81541	GAA		0.408	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		7	77	0	0	0	0	7	77				
AXDND1	126859	broad.mit.edu	37	1	179398721	179398721	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:179398721C>T	ENST00000367618.3	+	13	1686	c.1299C>T	c.(1297-1299)taC>taT	p.Y433Y	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Silent_p.Y433Y	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	433										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGAATAAATACACTAAGCATT	0.333																																						uc001gmo.2		NA																	0					0						c.(1297-1299)TAC>TAT		hypothetical protein LOC126859 isoform 1							60.0	60.0	60.0					1																	179398721		2203	4295	6498	SO:0001819	synonymous_variant	126859							g.chr1:179398721C>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1299C>T	1.37:g.179398721C>T						C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Silent_p.Y221Y|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Silent_p.Y433Y	p.Y433Y	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			13	1426	+			433					Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	ENST00000367618.3	37	c.1299C>T	CCDS30948.1																																																																																				0.333	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		6	39	0	0	0	0	6	39				
NMNAT2	23057	broad.mit.edu	37	1	183230439	183230439	+	Splice_Site	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:183230439C>G	ENST00000287713.6	-	9	986		c.e9-1		NMNAT2_ENST00000294868.4_Splice_Site	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TCACCTCCATCTAAAGAAACA	0.498																																						uc001gqc.1		NA																	0				skin(1)	1						c.e9-1		nicotinamide mononucleotide adenylyltransferase							96.0	90.0	92.0					1																	183230439		2203	4300	6503	SO:0001630	splice_region_variant	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183230439C>G	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.652-1G>C	1.37:g.183230439C>G						NMNAT2_uc009wye.1_Splice_Site|NMNAT2_uc001gqb.1_Splice_Site_p.M213_splice	p.M218_splice	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			9	987	-								O75067|Q5T1Q3|Q8WU99|Q96QW1	Splice_Site	SNP	ENST00000287713.6	37	c.652_splice	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722304	0.89298	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1728	0.93585	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NMNAT2	181497062	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.510000	0.81708	2.526000	0.85167	0.655000	0.94253	.		0.498	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1		Intron	20	35	0	0	0	0	20	35				
HMCN1	83872	broad.mit.edu	37	1	185833652	185833652	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:185833652G>A	ENST00000271588.4	+	3	619	c.390G>A	c.(388-390)ttG>ttA	p.L130L	HMCN1_ENST00000367492.2_Silent_p.L130L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	130	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATTGCCTTGGAAATTTCTC	0.408																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(388-390)TTG>TTA		hemicentin 1 precursor							128.0	122.0	124.0					1																	185833652		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185833652G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.390G>A	1.37:g.185833652G>A							p.L130L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			3	619	+			130			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.390G>A	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		6	43	0	0	0	0	6	43				
HMCN1	83872	broad.mit.edu	37	1	185972962	185972962	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:185972962G>T	ENST00000271588.4	+	29	4690	c.4461G>T	c.(4459-4461)tgG>tgT	p.W1487C	HMCN1_ENST00000367492.2_Missense_Mutation_p.W1487C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1487	Ig-like C2-type 12.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATTCATTGGTTCAAAGATG	0.403																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(4459-4461)TGG>TGT		hemicentin 1 precursor							123.0	97.0	106.0					1																	185972962		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185972962G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4461G>T	1.37:g.185972962G>T	ENSP00000271588:p.Trp1487Cys						p.W1487C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			29	4690	+			1487			Ig-like C2-type 12.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4461G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080272	0.76528	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.96300	-3.97;-3.97	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98829	1.0750	10	0.87932	D	0	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	1487	Q96RW7	HMCN1_HUMAN	C	1487	ENSP00000271588:W1487C;ENSP00000356462:W1487C	ENSP00000271588:W1487C	W	+	3	0	HMCN1	184239585	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.661000	0.91125	2.781000	0.95711	0.650000	0.86243	TGG		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		6	56	1	0	0.00307968	0.00513587	6	56				
HMCN1	83872	broad.mit.edu	37	1	186064470	186064470	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:186064470G>T	ENST00000271588.4	+	68	10619	c.10390G>T	c.(10390-10392)Gct>Tct	p.A3464S	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3464S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3464	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAACCCCAGCTCCCAGTAT	0.517																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(10390-10392)GCT>TCT		hemicentin 1 precursor							73.0	69.0	70.0					1																	186064470		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186064470G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10390G>T	1.37:g.186064470G>T	ENSP00000271588:p.Ala3464Ser						p.A3464S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			68	10619	+			3464			Ig-like C2-type 33.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10390G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	1.131	-0.652417	0.03480	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	5.2	-10.4	0.00318	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.939822	0.09071	N	0.852853	T	0.41534	0.1163	N	0.25789	0.76	0.09310	N	1	B	0.32409	0.37	B	0.35727	0.209	T	0.27640	-1.0068	10	0.08599	T	0.76	.	7.9063	0.29763	0.1243:0.3307:0.4628:0.0822	.	3464	Q96RW7	HMCN1_HUMAN	S	3464	ENSP00000271588:A3464S;ENSP00000356462:A3464S	ENSP00000271588:A3464S	A	+	1	0	HMCN1	184331093	0.000000	0.05858	0.001000	0.08648	0.293000	0.27360	0.094000	0.15107	-1.683000	0.01444	-0.367000	0.07326	GCT		0.517	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	39	1	0	0.000157383	0.000274117	8	39				
BRINP3	339479	broad.mit.edu	37	1	190067524	190067524	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:190067524T>A	ENST00000367462.3	-	8	2156	c.1925A>T	c.(1924-1926)gAg>gTg	p.E642V	BRINP3_ENST00000534846.1_Missense_Mutation_p.E540V	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	642					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTAAATGCTCTCATTACCATT	0.413																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1924-1926)GAG>GTG		family with sequence similarity 5, member C							165.0	174.0	171.0					1																	190067524		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067524T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1925A>T	1.37:g.190067524T>A	ENSP00000356432:p.Glu642Val					FAM5C_uc010pot.1_Missense_Mutation_p.E540V	p.E642V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2157	-	Prostate(682;0.198)		642					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1925A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963100	0.53507	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.20598	2.33;2.06	5.75	5.75	0.90469	.	0.104769	0.64402	D	0.000005	T	0.27832	0.0685	M	0.61703	1.905	0.58432	D	0.999994	P;P	0.40476	0.718;0.596	B;B	0.41174	0.349;0.189	T	0.04078	-1.0979	10	0.87932	D	0	.	14.0126	0.64507	0.0:0.0:0.0:1.0	.	540;642	B7Z260;Q76B58	.;FAM5C_HUMAN	V	642;540	ENSP00000356432:E642V;ENSP00000438022:E540V	ENSP00000356432:E642V	E	-	2	0	FAM5C	188334147	1.000000	0.71417	0.997000	0.53966	0.605000	0.37080	4.177000	0.58276	2.193000	0.70182	0.528000	0.53228	GAG		0.413	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		34	177	0	0	0	0	34	177				
RGS1	5996	broad.mit.edu	37	1	192548282	192548282	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:192548282C>G	ENST00000367459.3	+	5	526	c.460C>G	c.(460-462)Cgc>Ggc	p.R154G		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	154	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TATTGACTTCCGCACTCGAGA	0.333																																						uc001gsi.1		NA																	0					0						c.(460-462)CGC>GGC		regulator of G-protein signalling 1							76.0	81.0	79.0					1																	192548282		2203	4300	6503	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192548282C>G	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.460C>G	1.37:g.192548282C>G	ENSP00000356429:p.Arg154Gly						p.R154G	NM_002922	NP_002913	Q08116	RGS1_HUMAN			5	526	+		Breast(1374;0.188)	154			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.460C>G	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	C	4.920	0.171038	0.09391	.	.	ENSG00000090104	ENST00000367459	T	0.01947	4.54	5.68	4.77	0.60923	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.814135	0.11541	N	0.553718	T	0.01905	0.0060	N	0.12569	0.235	0.19775	N	0.999951	B	0.10296	0.003	B	0.17098	0.017	T	0.47837	-0.9086	10	0.33141	T	0.24	.	10.0874	0.42425	0.0:0.845:0.0:0.155	.	154	Q08116	RGS1_HUMAN	G	154	ENSP00000356429:R154G	ENSP00000356429:R154G	R	+	1	0	RGS1	190814905	0.010000	0.17322	0.109000	0.21407	0.973000	0.67179	1.582000	0.36568	1.541000	0.49316	0.591000	0.81541	CGC		0.333	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		13	71	0	0	0	0	13	71				
ZBTB41	360023	broad.mit.edu	37	1	197128811	197128811	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:197128811G>C	ENST00000367405.4	-	10	2476	c.2408C>G	c.(2407-2409)tCt>tGt	p.S803C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	803					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TACTTCAGCAGATACATTCTG	0.428																																						uc001gtx.1		NA																	0				ovary(1)|skin(1)	2						c.(2407-2409)TCT>TGT		zinc finger and BTB domain containing 41							190.0	173.0	179.0					1																	197128811		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128811G>C		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2408C>G	1.37:g.197128811G>C	ENSP00000356375:p.Ser803Cys					ZBTB41_uc009wyz.1_RNA	p.S803C	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			10	2477	-			803					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.2408C>G	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630397	0.46944	.	.	ENSG00000177888	ENST00000367405	T	0.05996	3.36	5.99	5.99	0.97316	.	0.000000	0.43416	D	0.000569	T	0.07369	0.0186	L	0.27053	0.805	0.44155	D	0.996959	P	0.51791	0.948	B	0.43155	0.41	T	0.08513	-1.0718	10	0.72032	D	0.01	.	15.9021	0.79387	0.0:0.1344:0.8656:0.0	.	803	Q5SVQ8	ZBT41_HUMAN	C	803	ENSP00000356375:S803C	ENSP00000356375:S803C	S	-	2	0	ZBTB41	195395434	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	6.717000	0.74707	2.840000	0.97914	0.655000	0.94253	TCT		0.428	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		12	104	0	0	0	0	12	104				
PTPRC	5788	broad.mit.edu	37	1	198682089	198682089	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:198682089A>G	ENST00000367376.2	+	12	1344	c.1173A>G	c.(1171-1173)ggA>ggG	p.G391G	PTPRC_ENST00000352140.3_Silent_p.G343G|PTPRC_ENST00000348564.6_Silent_p.G232G|PTPRC_ENST00000442510.2_Silent_p.G393G|PTPRC_ENST00000594404.1_Silent_p.G230G	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	391	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGGTCCAGGAGAGCCTCAGA	0.318																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1171-1173)GGA>GGG		protein tyrosine phosphatase, receptor type, C							92.0	101.0	98.0					1																	198682089		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198682089A>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1173A>G	1.37:g.198682089A>G						PTPRC_uc001gus.1_Silent_p.G343G|PTPRC_uc001gut.1_Silent_p.G230G|PTPRC_uc009wzf.1_Silent_p.G279G|PTPRC_uc010ppg.1_Silent_p.G327G	p.G391G	NM_002838	NP_002829	P08575	PTPRC_HUMAN			12	1353	+			391			Extracellular (Potential).|Fibronectin type-III 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.1173A>G																																																																																					0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				26	59	0	0	0	0	26	59				
FAM58BP	339521	broad.mit.edu	37	1	200182931	200182931	+	IGR	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:200182931C>A								NR5A2 (36379 upstream) : RP11-532L16.3 (101631 downstream)																							CCATGTCTTCCATTTACTTGG	0.527																																						uc009wzi.1		NA																	0					0						c.(238-240)TCC>TCA		family with sequence similarity 58 member B							172.0	166.0	168.0					1																	200182931		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200182931C>A																													1.37:g.200182931C>A							p.S80S	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	276	+	Prostate(682;0.19)		80						Silent	SNP		37	c.240C>A																																																																																				0	0.527									53	155	1	0	1.83e-24	3.93e-24	53	155				
C4BPB	725	broad.mit.edu	37	1	207265029	207265029	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207265029C>G	ENST00000243611.5	+	3	567	c.273C>G	c.(271-273)ttC>ttG	p.F91L	C4BPB_ENST00000367076.3_Missense_Mutation_p.F90L|C4BPB_ENST00000391923.1_Missense_Mutation_p.F91L|C4BPB_ENST00000367078.3_Missense_Mutation_p.F91L|C4BPB_ENST00000451804.2_Missense_Mutation_p.F81L	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	91	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						ATGGAGAGTTCAGTTCTTCAG	0.483																																						uc001hfj.2		NA																	0				ovary(1)	1						c.(271-273)TTC>TTG		complement component 4 binding protein, beta							134.0	124.0	127.0					1																	207265029		2203	4300	6503	SO:0001583	missense	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207265029C>G	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.273C>G	1.37:g.207265029C>G	ENSP00000243611:p.Phe91Leu					C4BPB_uc001hfi.2_Missense_Mutation_p.F90L|C4BPB_uc001hfk.2_Missense_Mutation_p.F90L|C4BPB_uc001hfl.2_Missense_Mutation_p.F91L|C4BPB_uc009xcd.2_Missense_Mutation_p.F81L|C4BPB_uc001hfm.2_Missense_Mutation_p.F91L|C4BPB_uc010pse.1_Missense_Mutation_p.F81L	p.F91L	NM_001017365	NP_001017365	P20851	C4BPB_HUMAN			4	403	+			91			Sushi 2.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	c.273C>G	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	C	0.215	-1.033129	0.02029	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.14	1.02	0.19986	Complement control module (2);Sushi/SCR/CCP (3);	1.090360	0.06986	N	0.820801	T	0.32793	0.0841	N	0.12422	0.21	0.09310	N	1	B;B;B;B	0.16603	0.003;0.008;0.018;0.015	B;B;B;B	0.16289	0.01;0.015;0.009;0.005	T	0.21759	-1.0236	10	0.10377	T	0.69	-0.0375	4.2098	0.10505	0.0:0.5254:0.1848:0.2898	.	81;81;91;90	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	L	91;91;91;90;91;81	ENSP00000356045:F91L;ENSP00000392237:F91L;ENSP00000243611:F91L;ENSP00000356043:F90L;ENSP00000375790:F91L;ENSP00000405649:F81L	ENSP00000243611:F91L	F	+	3	2	C4BPB	205331652	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.123000	0.15708	0.356000	0.24157	-0.218000	0.12543	TTC		0.483	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		7	123	0	0	0	0	7	123				
C4BPB	725	broad.mit.edu	37	1	207265065	207265065	+	Missense_Mutation	SNP	C	C	G	rs139041322		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207265065C>G	ENST00000243611.5	+	3	603	c.309C>G	c.(307-309)atC>atG	p.I103M	C4BPB_ENST00000367076.3_Missense_Mutation_p.I102M|C4BPB_ENST00000391923.1_Missense_Mutation_p.I103M|C4BPB_ENST00000367078.3_Missense_Mutation_p.I103M|C4BPB_ENST00000451804.2_Missense_Mutation_p.I93M	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	103	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						GTGACAAAATCACGTTTATGT	0.483																																						uc001hfj.2		NA																	0				ovary(1)	1						c.(307-309)ATC>ATG		complement component 4 binding protein, beta							142.0	126.0	131.0					1																	207265065		2203	4300	6503	SO:0001583	missense	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207265065C>G	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.309C>G	1.37:g.207265065C>G	ENSP00000243611:p.Ile103Met					C4BPB_uc001hfi.2_Missense_Mutation_p.I102M|C4BPB_uc001hfk.2_Missense_Mutation_p.I102M|C4BPB_uc001hfl.2_Missense_Mutation_p.I103M|C4BPB_uc009xcd.2_Missense_Mutation_p.I93M|C4BPB_uc001hfm.2_Missense_Mutation_p.I103M|C4BPB_uc010pse.1_Missense_Mutation_p.I93M	p.I103M	NM_001017365	NP_001017365	P20851	C4BPB_HUMAN			4	439	+			103			Sushi 2.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	c.309C>G	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750213	0.30955	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.04	3.15	0.36227	Complement control module (2);Sushi/SCR/CCP (3);	0.935307	0.08934	N	0.872616	T	0.77525	0.4143	M	0.70275	2.135	0.09310	N	1	D;D;D;P	0.65815	0.995;0.97;0.96;0.95	D;P;P;P	0.63597	0.916;0.859;0.776;0.667	T	0.60596	-0.7232	10	0.87932	D	0	-0.8194	6.7313	0.23385	0.0:0.7264:0.1788:0.0948	.	93;93;103;102	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	M	103;103;103;102;103;93	ENSP00000356045:I103M;ENSP00000392237:I103M;ENSP00000243611:I103M;ENSP00000356043:I102M;ENSP00000375790:I103M;ENSP00000405649:I93M	ENSP00000243611:I103M	I	+	3	3	C4BPB	205331688	0.192000	0.23301	0.036000	0.18154	0.378000	0.30076	0.761000	0.26489	0.703000	0.31848	0.591000	0.81541	ATC		0.483	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		6	101	0	0	0	0	6	101				
CR1	1378	broad.mit.edu	37	1	207753627	207753627	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:207753627C>T	ENST00000367049.4	+	30	4979	c.4979C>T	c.(4978-4980)cCa>cTa	p.P1660L	CR1_ENST00000367051.1_Missense_Mutation_p.P1210L|CR1_ENST00000367053.1_Missense_Mutation_p.P1210L|CR1_ENST00000367052.1_Missense_Mutation_p.P1210L|CR1_ENST00000400960.2_Missense_Mutation_p.P1210L|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1210	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGCATACCCCAAGCCATCAG	0.537																																						uc001hfy.2		NA																	0				ovary(3)	3						c.(3628-3630)CCA>CTA		complement receptor 1 isoform F precursor							128.0	128.0	128.0					1																	207753627		1965	4156	6121	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207753627C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4979C>T	1.37:g.207753627C>T	ENSP00000356016:p.Pro1660Leu					CR1_uc009xcl.1_Missense_Mutation_p.P760L|CR1_uc001hfx.2_Missense_Mutation_p.P1660L	p.P1210L	NM_000573	NP_000564	P17927	CR1_HUMAN			22	3769	+			1210			Extracellular (Potential).|Sushi 19.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.3629C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	1.025	-0.683639	0.03353	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	3.94	-0.819	0.10829	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.37945	0.1022	L	0.33710	1.025	0.09310	N	1	B;B;B	0.21821	0.002;0.001;0.061	B;B;B	0.21917	0.014;0.004;0.037	T	0.29397	-1.0013	9	0.02654	T	1	.	1.8129	0.03094	0.3733:0.3465:0.1701:0.1101	.	1210;1210;1660	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	L	1210;1210;1210;1210;760;1660	ENSP00000356019:P1210L;ENSP00000356018:P1210L;ENSP00000356020:P1210L;ENSP00000383744:P1210L;ENSP00000436139:P760L;ENSP00000356016:P1660L	ENSP00000356016:P1660L	P	+	2	0	CR1	205820250	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.266000	0.08631	0.046000	0.15833	-0.158000	0.13435	CCA		0.537	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		10	177	0	0	0	0	10	177				
INTS7	25896	broad.mit.edu	37	1	212151750	212151750	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:212151750G>A	ENST00000366994.3	-	11	1438	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	INTS7_ENST00000366993.3_Missense_Mutation_p.A445V|INTS7_ENST00000440600.2_Missense_Mutation_p.A396V|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.A445V	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	445					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAAAATCCGGGCAGCGTCTTG	0.532																																						uc001hiw.1		NA																	0					0						c.(1333-1335)GCC>GTC		integrator complex subunit 7							112.0	103.0	106.0					1																	212151750		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212151750G>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1334C>T	1.37:g.212151750G>A	ENSP00000355961:p.Ala445Val					INTS7_uc009xdb.1_Missense_Mutation_p.A445V|INTS7_uc001hix.1_Missense_Mutation_p.A321V|INTS7_uc001hiy.1_Missense_Mutation_p.A445V|INTS7_uc010pta.1_Missense_Mutation_p.A396V	p.A445V	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	11	1439	-			445					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.1334C>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686701	0.68157	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.62105	0.05;0.05;0.05;0.45	5.69	4.76	0.60689	Armadillo-like helical (1);Armadillo-type fold (1);	0.149307	0.64402	D	0.000013	T	0.49575	0.1565	N	0.19112	0.55	0.50813	D	0.999897	P;B;B;B	0.40534	0.72;0.241;0.241;0.135	B;B;B;B	0.40565	0.333;0.196;0.139;0.161	T	0.45804	-0.9236	10	0.27785	T	0.31	-2.4348	15.8724	0.79132	0.0:0.0:0.8633:0.1367	.	396;445;445;445	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	V	445;445;445;396	ENSP00000355961:A445V;ENSP00000355960:A445V;ENSP00000355959:A445V;ENSP00000388908:A396V	ENSP00000355959:A445V	A	-	2	0	INTS7	210218373	1.000000	0.71417	0.544000	0.28141	0.995000	0.86356	6.326000	0.72905	1.355000	0.45865	0.650000	0.86243	GCC		0.532	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		12	77	0	0	0	0	12	77				
VASH2	79805	broad.mit.edu	37	1	213146178	213146178	+	Missense_Mutation	SNP	G	G	T	rs547668925		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:213146178G>T	ENST00000517399.1	+	5	754	c.754G>T	c.(754-756)Gtc>Ttc	p.V252F	VASH2_ENST00000366968.4_Missense_Mutation_p.V187F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Missense_Mutation_p.V208F|VASH2_ENST00000366964.3_Missense_Mutation_p.V110F|VASH2_ENST00000366967.2_Missense_Mutation_p.V148F|VASH2_ENST00000366966.2_Missense_Mutation_p.V187F			Q86V25	VASH2_HUMAN	vasohibin 2	252					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGGGCTGTACGTCCCCCATGA	0.498																																						uc001hjy.2		NA																	0					0						c.(754-756)GTC>TTC		vasohibin 2 isoform 3							112.0	100.0	104.0					1																	213146178		2203	4300	6503	SO:0001583	missense	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213146178G>T	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.754G>T	1.37:g.213146178G>T	ENSP00000428324:p.Val252Phe					VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Missense_Mutation_p.V187F|VASH2_uc010ptn.1_Missense_Mutation_p.V148F|VASH2_uc001hjw.2_Missense_Mutation_p.V208F	p.V252F	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	5	958	+			252					B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	c.754G>T	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408530	0.83340	.	.	ENSG00000143494	ENST00000366966;ENST00000366964;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	5.26	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.78314	0.991;0.837	T	0.80879	-0.1185	9	0.87932	D	0	-8.5798	13.8148	0.63285	0.0734:0.0:0.9266:0.0	.	252;208	Q86V25;Q86V25-5	VASH2_HUMAN;.	F	187;110;187;208;148;252	.	ENSP00000355931:V110F	V	+	1	0	VASH2	211212801	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.602000	0.98312	1.356000	0.45884	0.655000	0.94253	GTC		0.498	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		32	60	1	0	1.36e-19	2.9e-19	32	60				
PROX1	5629	broad.mit.edu	37	1	214171246	214171246	+	Silent	SNP	C	C	A	rs530123487		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:214171246C>A	ENST00000366958.4	+	2	1976	c.1368C>A	c.(1366-1368)gcC>gcA	p.A456A	PROX1_ENST00000261454.4_Silent_p.A456A|PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	456				PAA -> LV (in Ref. 1; AAC50656). {ECO:0000305}.	aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGGCCCTGCCGCTGGCGGCC	0.642																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1366-1368)GCC>GCA		prospero homeobox 1							60.0	73.0	68.0					1																	214171246		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171246C>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1368C>A	1.37:g.214171246C>A						PROX1_uc001hkg.1_Silent_p.A456A	p.A456A	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1640	+			456	PAA -> LV (in Ref. 1; AAC50656).				A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1368C>A	CCDS31021.1																																																																																				0.642	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		33	102	1	0	4.42e-11	8.9e-11	33	102				
ESRRG	2104	broad.mit.edu	37	1	216850521	216850521	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:216850521C>T	ENST00000408911.3	-	2	522	c.369G>A	c.(367-369)atG>atA	p.M123I	ESRRG_ENST00000361395.2_Missense_Mutation_p.M100I|ESRRG_ENST00000493603.1_Missense_Mutation_p.M100I|ESRRG_ENST00000366937.1_Missense_Mutation_p.M128I|ESRRG_ENST00000366940.2_Missense_Mutation_p.M100I|ESRRG_ENST00000361525.3_Missense_Mutation_p.M100I|ESRRG_ENST00000487276.1_Missense_Mutation_p.M100I|ESRRG_ENST00000366938.2_Missense_Mutation_p.M100I|ESRRG_ENST00000493748.1_Missense_Mutation_p.M100I|ESRRG_ENST00000391890.3_Missense_Mutation_p.M100I|ESRRG_ENST00000359162.2_Missense_Mutation_p.M100I|ESRRG_ENST00000463665.1_Missense_Mutation_p.M100I|ESRRG_ENST00000360012.3_Missense_Mutation_p.M100I	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	123					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)	GTCTCTTGGGCATCGAGTTGA	0.498																																						uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(367-369)ATG>ATA		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						221.0	196.0	204.0					1																	216850521		2203	4300	6503	SO:0001583	missense	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.chr1:216850521C>T	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.369G>A	1.37:g.216850521C>T	ENSP00000386171:p.Met123Ile					ESRRG_uc001hky.1_Missense_Mutation_p.M100I|ESRRG_uc009xdp.1_Missense_Mutation_p.M100I|ESRRG_uc001hkz.1_Missense_Mutation_p.M100I|ESRRG_uc010puc.1_Missense_Mutation_p.M100I|ESRRG_uc001hla.1_Missense_Mutation_p.M100I|ESRRG_uc001hlb.1_Missense_Mutation_p.M100I|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.M100I|ESRRG_uc001hld.1_Missense_Mutation_p.M100I|ESRRG_uc001hkx.1_Missense_Mutation_p.M128I|ESRRG_uc009xdo.1_Missense_Mutation_p.M100I|ESRRG_uc001hle.1_Missense_Mutation_p.M100I	p.M123I	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)	2	535	-			123					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.369G>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460968	0.26248	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.06;-3.1;-3.39;-3.06;-3.06;-2.89	6.01	6.01	0.97437	Zinc finger, NHR/GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	N	0.04508	-0.205	0.80722	D	1	B;P;B	0.39044	0.0;0.656;0.0	B;P;B	0.51777	0.0;0.679;0.0	D	0.89011	0.3428	10	0.25106	T	0.35	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	100;128;123	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	I	100;100;128;123;100;100;100;100;100;100;100;100;100;100;100	ENSP00000355225:M100I;ENSP00000355907:M100I;ENSP00000355904:M128I;ENSP00000386171:M123I;ENSP00000352077:M100I;ENSP00000354584:M100I;ENSP00000355905:M100I;ENSP00000353108:M100I;ENSP00000419594:M100I;ENSP00000375761:M100I;ENSP00000418629:M100I;ENSP00000419155:M100I;ENSP00000417374:M100I;ENSP00000419514:M100I	ENSP00000346386:M100I	M	-	3	0	ESRRG	214917144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.948000	0.56660	2.861000	0.98227	0.650000	0.86243	ATG		0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		20	79	0	0	0	0	20	79				
RAB3GAP2	25782	broad.mit.edu	37	1	220355610	220355610	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:220355610G>C	ENST00000358951.2	-	21	2415	c.2299C>G	c.(2299-2301)Cag>Gag	p.Q767E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	767					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AACAACAGCTGAGGGCTAAGA	0.408																																						uc010puk.1		NA																	0				central_nervous_system(1)	1						c.(2299-2301)CAG>GAG		rab3 GTPase-activating protein, non-catalytic							135.0	128.0	130.0					1																	220355610		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220355610G>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2299C>G	1.37:g.220355610G>C	ENSP00000351832:p.Gln767Glu					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.Q347E	p.Q767E	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	21	2463	-			767					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2299C>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578732	0.46006	.	.	ENSG00000118873	ENST00000358951	T	0.28666	1.6	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.47716	1.5	0.80722	D	1	P	0.52577	0.954	P	0.54815	0.761	T	0.03051	-1.1078	10	0.18276	T	0.48	.	20.1012	0.97876	0.0:0.0:1.0:0.0	.	767	Q9H2M9	RBGPR_HUMAN	E	767	ENSP00000351832:Q767E	ENSP00000351832:Q767E	Q	-	1	0	RAB3GAP2	218422233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.572000	0.90756	2.754000	0.94517	0.650000	0.86243	CAG		0.408	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		14	93	0	0	0	0	14	93				
DISP1	84976	broad.mit.edu	37	1	223176180	223176180	+	Missense_Mutation	SNP	G	G	T	rs371983177		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:223176180G>T	ENST00000284476.6	+	8	1605	c.1441G>T	c.(1441-1443)Gtg>Ttg	p.V481L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	481					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCTGACGGCGTGACTACCAT	0.418																																						uc001hnu.1		NA																	0					0						c.(1441-1443)GTG>TTG		dispatched A							82.0	78.0	79.0					1																	223176180		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176180G>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1441G>T	1.37:g.223176180G>T	ENSP00000284476:p.Val481Leu						p.V481L	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1588	+			481					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1441G>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	5.269	0.234990	0.09969	.	.	ENSG00000154309	ENST00000284476	D	0.85171	-1.95	5.84	1.56	0.23342	.	0.297196	0.37348	N	0.002133	T	0.67107	0.2858	N	0.10916	0.065	0.32692	N	0.514031	B	0.06786	0.001	B	0.12156	0.007	T	0.59215	-0.7496	10	0.17369	T	0.5	-14.8675	8.8541	0.35217	0.4315:0.0:0.5685:0.0	.	481	Q96F81	DISP1_HUMAN	L	481	ENSP00000284476:V481L	ENSP00000284476:V481L	V	+	1	0	DISP1	221242803	0.115000	0.22152	0.966000	0.40874	0.993000	0.82548	0.481000	0.22260	0.269000	0.21961	0.591000	0.81541	GTG		0.418	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		24	74	1	0	4.27e-12	8.67e-12	24	74				
CAPN2	824	broad.mit.edu	37	1	223933090	223933090	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:223933090C>G	ENST00000295006.5	+	4	818	c.509C>G	c.(508-510)tCa>tGa	p.S170*	CAPN2_ENST00000433674.2_Nonsense_Mutation_p.S92*	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	170	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTTGTGCATTCAGCCGAAGGG	0.612																																						uc001hob.3		NA																	0				lung(3)|breast(1)|skin(1)	5						c.(508-510)TCA>TGA		calpain 2 isoform 1							93.0	95.0	95.0					1																	223933090		2203	4300	6503	SO:0001587	stop_gained	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223933090C>G	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.509C>G	1.37:g.223933090C>G	ENSP00000295006:p.Ser170*					CAPN2_uc010puy.1_Nonsense_Mutation_p.S92*	p.S170*	NM_001748	NP_001739	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	4	733	+			170			Calpain catalytic.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Nonsense_Mutation	SNP	ENST00000295006.5	37	c.509C>G	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	c	38	6.649607	0.97734	.	.	ENSG00000162909	ENST00000433674;ENST00000434648;ENST00000295006;ENST00000366869	.	.	.	5.48	4.57	0.56435	.	0.062124	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.3413	0.55095	0.0:0.8594:0.0:0.1406	.	.	.	.	X	92;92;170;199	.	ENSP00000295006:S170X	S	+	2	0	CAPN2	221999713	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	6.004000	0.70709	1.313000	0.45069	0.539000	0.68188	TCA		0.612	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		3	79	0	0	0	0	3	79				
LEFTY1	10637	broad.mit.edu	37	1	226076549	226076549	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:226076549G>C	ENST00000272134.5	-	1	297	c.218C>G	c.(217-219)tCc>tGc	p.S73C	RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	73					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CTTTCCGCGGGAGCGGTCCCC	0.692																																						uc001hpo.2		NA																	0					0						c.(217-219)TCC>TGC		left-right determination, factor B							36.0	39.0	38.0					1																	226076549		2203	4300	6503	SO:0001583	missense	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226076549G>C	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.218C>G	1.37:g.226076549G>C	ENSP00000272134:p.Ser73Cys					LEFTY1_uc010pvj.1_Intron|LEFTY1_uc009xej.1_Missense_Mutation_p.S73C	p.S73C	NM_020997	NP_066277	O75610	LFTY1_HUMAN			1	288	-	Breast(184;0.197)		73					B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	c.218C>G	CCDS1548.1	.	.	.	.	.	.	.	.	.	.	g	13.15	2.151667	0.38021	.	.	ENSG00000243709	ENST00000272134	T	0.68479	-0.33	3.88	3.88	0.44766	Transforming growth factor-beta, N-terminal (1);	0.181635	0.47093	D	0.000259	T	0.79913	0.4528	M	0.78049	2.395	0.21967	N	0.999441	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.70963	-0.4729	10	0.72032	D	0.01	.	11.683	0.51470	0.0:0.0:1.0:0.0	.	73;73	B2R7U0;O75610	.;LFTY1_HUMAN	C	73	ENSP00000272134:S73C	ENSP00000272134:S73C	S	-	2	0	LEFTY1	224143172	0.504000	0.26123	0.619000	0.29118	0.119000	0.20118	2.774000	0.47694	1.895000	0.54865	0.313000	0.20887	TCC		0.692	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		12	31	0	0	0	0	12	31				
GJC2	57165	broad.mit.edu	37	1	228346341	228346341	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:228346341G>C	ENST00000366714.2	+	2	1057	c.882G>C	c.(880-882)gcG>gcC	p.A294A		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	294					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGGGCAGCGCGCAGGACGCGG	0.741																																						uc001hsk.2		NA																	0					0						c.(880-882)GCG>GCC		gap junction protein, gamma 2, 47kDa							34.0	35.0	35.0					1																	228346341		2202	4296	6498	SO:0001819	synonymous_variant	57165				cell death	connexon complex|integral to membrane		g.chr1:228346341G>C	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.882G>C	1.37:g.228346341G>C							p.A294A	NM_020435	NP_065168	Q5T442	CXG2_HUMAN			2	1057	+		Prostate(94;0.0405)	294			Cytoplasmic (Potential).		O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	c.882G>C	CCDS1569.1																																																																																				0.741	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		14	37	0	0	0	0	14	37				
SPRTN	83932	broad.mit.edu	37	1	231488530	231488530	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:231488530C>G	ENST00000295050.7	+	5	1229	c.893C>G	c.(892-894)tCt>tGt	p.S298C	SPRTN_ENST00000391858.4_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	298					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										AGACCTAATTCTAAAATCAAG	0.353																																						uc001hur.2		NA																	0					0						c.(892-894)TCT>TGT		hypothetical protein LOC83932 isoform a							55.0	55.0	55.0					1																	231488530		2203	4300	6503	SO:0001583	missense	83932				DNA repair	nuclear speck	DNA binding|metal ion binding	g.chr1:231488530C>G	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.893C>G	1.37:g.231488530C>G	ENSP00000295050:p.Ser298Cys					C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR	p.S298C	NM_032018	NP_114407	Q9H040	CA124_HUMAN			5	1341	+	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	298					B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.893C>G	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761873	0.31228	.	.	ENSG00000010072	ENST00000295050	T	0.48836	0.8	5.26	2.18	0.27775	.	0.727142	0.13834	N	0.359541	T	0.42131	0.1189	M	0.63428	1.95	0.19300	N	0.999978	B	0.18741	0.03	B	0.14578	0.011	T	0.41197	-0.9522	10	0.62326	D	0.03	-8.7292	6.8306	0.23907	0.1327:0.6699:0.1278:0.0696	.	298	Q9H040	CA124_HUMAN	C	298	ENSP00000295050:S298C	ENSP00000295050:S298C	S	+	2	0	C1orf124	229555153	0.286000	0.24305	0.002000	0.10522	0.070000	0.16714	1.393000	0.34497	0.773000	0.33404	0.637000	0.83480	TCT		0.353	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		3	41	0	0	0	0	3	41				
RYR2	6262	broad.mit.edu	37	1	237777906	237777906	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:237777906T>C	ENST00000366574.2	+	37	5795	c.5478T>C	c.(5476-5478)taT>taC	p.Y1826Y	RYR2_ENST00000360064.6_Silent_p.Y1824Y|RYR2_ENST00000542537.1_Silent_p.Y1810Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1826	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)			AGCTTTTCTATACCCTGCTGA	0.493																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5476-5478)TAT>TAC		cardiac muscle ryanodine receptor							159.0	149.0	153.0					1																	237777906		1932	4158	6090	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777906T>C	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.5478T>C	1.37:g.237777906T>C							p.Y1826Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5598	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1826			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5478T>C	CCDS55691.1																																																																																				0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		47	181	0	0	0	0	47	181				
FMN2	56776	broad.mit.edu	37	1	240255773	240255773	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:240255773A>G	ENST00000319653.9	+	1	594	c.364A>G	c.(364-366)Agc>Ggc	p.S122G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	122					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCAGACCTCAGCCTCTCGGC	0.687																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(364-366)AGC>GGC		formin 2							13.0	16.0	15.0					1																	240255773		2202	4298	6500	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255773A>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.364A>G	1.37:g.240255773A>G	ENSP00000318884:p.Ser122Gly					FMN2_uc010pye.1_Missense_Mutation_p.S122G	p.S122G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	589	+	Ovarian(103;0.127)	all_cancers(173;0.013)	122					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.364A>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788798	0.31685	.	.	ENSG00000155816	ENST00000319653	T	0.52983	0.64	4.35	3.21	0.36854	.	0.000000	0.64402	D	0.000001	T	0.41351	0.1155	L	0.56769	1.78	0.80722	D	1	B	0.24618	0.107	B	0.19946	0.027	T	0.45011	-0.9290	10	0.54805	T	0.06	.	9.3878	0.38354	0.9134:0.0:0.0866:0.0	.	122	Q9NZ56	FMN2_HUMAN	G	122	ENSP00000318884:S122G	ENSP00000318884:S122G	S	+	1	0	FMN2	238322396	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.228000	0.58619	1.725000	0.51514	0.260000	0.18958	AGC		0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	11	0	0	0	0	4	11				
FMN2	56776	broad.mit.edu	37	1	240492684	240492684	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:240492684C>G	ENST00000319653.9	+	10	4583	c.4353C>G	c.(4351-4353)gtC>gtG	p.V1451V	FMN2_ENST00000545751.1_Silent_p.V47V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1451	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCGAGTCTTTTGCATCC	0.373																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4351-4353)GTC>GTG		formin 2							173.0	161.0	165.0					1																	240492684		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492684C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4353C>G	1.37:g.240492684C>G						FMN2_uc010pye.1_Silent_p.V1455V|FMN2_uc010pyf.1_Silent_p.V97V|FMN2_uc010pyg.1_Silent_p.V47V	p.V1451V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		10	4578	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1451			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4353C>G	CCDS31069.2																																																																																				0.373	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		9	118	0	0	0	0	9	118				
CHML	1122	broad.mit.edu	37	1	241798317	241798317	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:241798317G>C	ENST00000366553.1	-	1	915	c.752C>G	c.(751-753)tCa>tGa	p.S251*	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	251					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACTAACATCTGATTTGATTAA	0.343																																						uc001hzd.2		NA																	0				ovary(4)|skin(2)	6						c.(751-753)TCA>TGA		choroideremia-like Rab escort protein 2							57.0	56.0	56.0					1																	241798317		2203	4296	6499	SO:0001587	stop_gained	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798317G>C	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.752C>G	1.37:g.241798317G>C	ENSP00000355511:p.Ser251*					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.S251*	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	916	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	251					B2RAB9|Q17RE0|Q9H1Y4	Nonsense_Mutation	SNP	ENST00000366553.1	37	c.752C>G	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	37	6.612897	0.97705	.	.	ENSG00000203668	ENST00000366553	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.8863	0.79251	0.0:0.0:1.0:0.0	.	.	.	.	X	251	.	ENSP00000355511:S251X	S	-	2	0	CHML	239864940	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.522000	0.73783	2.691000	0.91804	0.650000	0.86243	TCA		0.343	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		7	63	0	0	0	0	7	63				
NLRP3	114548	broad.mit.edu	37	1	247588696	247588696	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:247588696C>A	ENST00000336119.3	+	3	2697	c.1951C>A	c.(1951-1953)Ccc>Acc	p.P651T	NLRP3_ENST00000391827.2_Missense_Mutation_p.P651T|NLRP3_ENST00000366496.2_Missense_Mutation_p.P651T|NLRP3_ENST00000391828.3_Missense_Mutation_p.P651T|NLRP3_ENST00000366497.2_Missense_Mutation_p.P651T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.P651T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	651					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACTATTTCCCCAAGATTGA	0.493																																						uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1951-1953)CCC>ACC		NLR family, pyrin domain containing 3 isoform a							94.0	81.0	85.0					1																	247588696		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588696C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1951C>A	1.37:g.247588696C>A	ENSP00000337383:p.Pro651Thr					NLRP3_uc001ics.2_Missense_Mutation_p.P651T|NLRP3_uc001icu.2_Missense_Mutation_p.P651T|NLRP3_uc001icw.2_Missense_Mutation_p.P651T|NLRP3_uc001icv.2_Missense_Mutation_p.P651T|NLRP3_uc010pyw.1_Missense_Mutation_p.P649T|NLRP3_uc001ict.1_Missense_Mutation_p.P649T	p.P651T	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2089	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	651					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1951C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061617	0.36373	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	3.96	3.96	0.45880	.	0.000000	0.48767	D	0.000163	D	0.87565	0.6209	M	0.66939	2.045	0.44462	D	0.997398	P;B;B;B;B	0.35872	0.525;0.278;0.34;0.198;0.23	B;B;B;B;B	0.39419	0.157;0.299;0.171;0.257;0.131	D	0.86379	0.1728	10	0.38643	T	0.18	.	11.8199	0.52232	0.0:1.0:0.0:0.0	.	651;651;651;651;651	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	T	651	ENSP00000375704:P651T;ENSP00000355453:P651T;ENSP00000337383:P651T;ENSP00000294752:P651T;ENSP00000355452:P651T;ENSP00000375703:P651T	ENSP00000337383:P651T	P	+	1	0	NLRP3	245655319	0.125000	0.22332	0.999000	0.59377	0.889000	0.51656	0.878000	0.28126	2.502000	0.84385	0.655000	0.94253	CCC		0.493	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		9	47	1	0	3.07e-06	5.66e-06	9	47				
OR2T33	391195	broad.mit.edu	37	1	248437009	248437009	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248437009G>T	ENST00000318021.2	-	1	129	c.108C>A	c.(106-108)tcC>tcA	p.S36S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCCAAACAGGGAGGTCAAAA	0.488																																						uc010pzi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(106-108)TCC>TCA		olfactory receptor, family 2, subfamily T,							34.0	36.0	36.0					1																	248437009		2200	4279	6479	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437009G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.108C>A	1.37:g.248437009G>T							p.S36S	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	108	-	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)		36			Helical; Name=1; (Potential).		B2RNN0	Silent	SNP	ENST00000318021.2	37	c.108C>A	CCDS31109.1																																																																																				0.488	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		21	83	1	0	3.17e-13	6.56e-13	21	83				
OR2T3	343173	broad.mit.edu	37	1	248637210	248637210	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248637210C>T	ENST00000359594.2	+	1	584	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTGAGACTCCTGCCCTGCT	0.512																																						uc001iel.1		NA																	0				skin(1)	1						c.(559-561)CCT>TCT		olfactory receptor, family 2, subfamily T,							91.0	80.0	84.0					1																	248637210		2171	4269	6440	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637210C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.559C>T	1.37:g.248637210C>T	ENSP00000352604:p.Pro187Ser						p.P187S	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	559	+	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)		187			Extracellular (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.559C>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	12.84	2.057201	0.36277	.	.	ENSG00000196539	ENST00000359594	T	0.00202	8.56	2.37	1.27	0.21489	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	M	0.72479	2.2	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.51340	-0.8718	9	0.66056	D	0.02	.	5.6297	0.17504	0.1799:0.5093:0.3108:0.0	.	187	Q8NH03	OR2T3_HUMAN	S	187	ENSP00000352604:P187S	ENSP00000352604:P187S	P	+	1	0	OR2T3	246703833	0.000000	0.05858	0.008000	0.14137	0.246000	0.25737	-2.702000	0.00823	1.014000	0.39417	0.186000	0.17326	CCT		0.512	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		91	205	0	0	0	0	91	205				
OR2G6	391211	broad.mit.edu	37	1	248685139	248685139	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:248685139C>A	ENST00000343414.4	+	1	224	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCCTCAGCAACCTCTCGT	0.483																																						uc001ien.1		NA																	0				ovary(2)|skin(1)	3						c.(190-192)AGC>AGA		olfactory receptor, family 2, subfamily G,							130.0	110.0	117.0					1																	248685139		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685139C>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.192C>A	1.37:g.248685139C>A	ENSP00000341291:p.Ser64Arg						p.S64R	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	192	+	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)	all_cancers(173;0.0156)	64			Helical; Name=2; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.192C>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	12.43	1.934516	0.34189	.	.	ENSG00000188558	ENST00000343414	T	0.00402	7.56	3.68	-2.2	0.06994	GPCR, rhodopsin-like superfamily (1);	0.297112	0.23779	U	0.044657	T	0.00468	0.0015	L	0.52206	1.635	0.09310	N	1	D	0.54964	0.969	P	0.53006	0.715	T	0.50491	-0.8822	10	0.49607	T	0.09	.	9.1483	0.36946	0.0:0.4058:0.0:0.5942	.	64	Q5TZ20	OR2G6_HUMAN	R	64	ENSP00000341291:S64R	ENSP00000341291:S64R	S	+	3	2	OR2G6	246751762	0.000000	0.05858	0.025000	0.17156	0.835000	0.47333	-0.302000	0.08221	-0.324000	0.08589	0.400000	0.26472	AGC		0.483	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		33	63	1	0	6.51e-10	1.29e-09	33	63				
ITGA8	8516	broad.mit.edu	37	10	15686196	15686196	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:15686196G>A	ENST00000378076.3	-	13	1585	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	411					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCCTTGCCTGCAAAAGGCAC	0.393																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1231-1233)GCA>GTA		integrin, alpha 8 precursor							97.0	80.0	86.0					10																	15686196		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15686196G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1232C>T	10.37:g.15686196G>A	ENSP00000367316:p.Ala411Val					ITGA8_uc010qcb.1_Missense_Mutation_p.A396V	p.A411V	NM_003638	NP_003629	P53708	ITA8_HUMAN			13	1232	-			411			Extracellular (Potential).|FG-GAP 6.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1232C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045591	0.75846	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.50548	0.74	6.02	5.11	0.69529	.	0.139370	0.64402	D	0.000005	T	0.57829	0.2080	L	0.28344	0.845	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	T	0.63501	-0.6623	10	0.72032	D	0.01	.	17.217	0.86947	0.0:0.126:0.874:0.0	.	396;411	F5H818;P53708	.;ITA8_HUMAN	V	411;396	ENSP00000367316:A411V	ENSP00000367316:A411V	A	-	2	0	ITGA8	15726202	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	4.124000	0.57924	1.527000	0.49086	0.655000	0.94253	GCA		0.393	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		13	22	0	0	0	0	13	22				
NSUN6	221078	broad.mit.edu	37	10	18885189	18885189	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:18885189C>T	ENST00000377304.4	-	7	1143	c.725G>A	c.(724-726)tGt>tAt	p.C242Y		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	242	S-adenosyl-L-methionine binding. {ECO:0000255|PROSITE-ProRule:PRU01023}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGTGCTGCACACAAGTCTAG	0.388																																						uc010qcp.1		NA																	0				ovary(2)	2						c.(724-726)TGT>TAT		NOL1/NOP2/Sun domain family, member 6							228.0	209.0	215.0					10																	18885189		2203	4300	6503	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18885189C>T	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.725G>A	10.37:g.18885189C>T	ENSP00000366519:p.Cys242Tyr						p.C242Y	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN			7	1143	-			242			S-adenosyl-L-methionine binding (By similarity).		B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.725G>A	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185366	0.78677	.	.	ENSG00000241058	ENST00000377304	T	0.34667	1.35	4.51	4.51	0.55191	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86699	0.1928	10	0.87932	D	0	.	16.8316	0.85946	0.0:1.0:0.0:0.0	.	242	Q8TEA1	NSUN6_HUMAN	Y	242	ENSP00000366519:C242Y	ENSP00000366519:C242Y	C	-	2	0	NSUN6	18925195	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.818000	0.75257	2.019000	0.59389	0.655000	0.94253	TGT		0.388	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		11	52	0	0	0	0	11	52				
ARHGAP12	94134	broad.mit.edu	37	10	32101646	32101646	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:32101646C>G	ENST00000344936.2	-	15	2174	c.1940G>C	c.(1939-1941)gGt>gCt	p.G647A	ARHGAP12_ENST00000375250.5_Missense_Mutation_p.G617A|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.G595A|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.G595A|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.G642A	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	647					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TTTAATATAACCTTTTTCACG	0.308																																						uc001ivz.1		NA																	0					0						c.(1939-1941)GGT>GCT		Rho GTPase activating protein 12							110.0	114.0	112.0					10																	32101646		2203	4300	6503	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32101646C>G	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1940G>C	10.37:g.32101646C>G	ENSP00000345808:p.Gly647Ala					ARHGAP12_uc001ivy.1_Missense_Mutation_p.G593A|ARHGAP12_uc009xls.2_Missense_Mutation_p.G598A|ARHGAP12_uc001iwb.1_Missense_Mutation_p.G640A|ARHGAP12_uc001iwc.1_Missense_Mutation_p.G615A|ARHGAP12_uc009xlq.1_Missense_Mutation_p.G568A|ARHGAP12_uc001iwd.1_Missense_Mutation_p.G615A	p.G647A	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN			15	2210	-		Prostate(175;0.0199)	647					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1940G>C	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552311	0.86127	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.10288	2.95;2.9;2.89;2.9;2.95	5.74	5.74	0.90152	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D	0.85130	0.917;0.993;0.997;0.993;0.993;0.997	T	0.35847	-0.9772	10	0.87932	D	0	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	600;617;617;642;647;595	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	A	595;617;647;642;595	ENSP00000310984:G595A;ENSP00000364399:G617A;ENSP00000345808:G647A;ENSP00000379448:G642A;ENSP00000364394:G595A	ENSP00000310984:G595A	G	-	2	0	ARHGAP12	32141652	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.780000	0.85658	2.703000	0.92315	0.655000	0.94253	GGT		0.308	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			6	47	0	0	0	0	6	47				
MAPK8	5599	broad.mit.edu	37	10	49633957	49633957	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:49633957G>C	ENST00000374189.1	+	8	896	c.715G>C	c.(715-717)Gaa>Caa	p.E239Q	MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000360332.3_Missense_Mutation_p.E239Q|MAPK8_ENST00000374182.3_Missense_Mutation_p.E239Q			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TAAAGTTATTGAACAGCTTGG	0.318																																						uc009xnz.2		NA																	0				central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(715-717)GAA>CAA		mitogen-activated protein kinase 8 isoform JNK1							104.0	96.0	99.0					10																	49633957		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49633957G>C	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.715G>C	10.37:g.49633957G>C	ENSP00000363304:p.Glu239Gln					MAPK8_uc001jgl.2_Missense_Mutation_p.E239Q|MAPK8_uc001jgm.2_Missense_Mutation_p.E239Q|MAPK8_uc001jgo.2_Missense_Mutation_p.E239Q|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.E239Q|MAPK8_uc010qgk.1_Missense_Mutation_p.E239Q|MAPK8_uc001jgp.2_Missense_Mutation_p.E239Q|MAPK8_uc001jgq.2_Missense_Mutation_p.E239Q	p.E239Q	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	8	939	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	239			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.715G>C	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079070	0.94050	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	N	0.13272	0.32	0.80722	D	1	P;P;P;P	0.49358	0.905;0.923;0.923;0.905	P;P;P;B	0.48840	0.456;0.592;0.592;0.324	T	0.62982	-0.6738	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	239;239;239;239	P45983-2;P45983;A1L4K2;P45983-3	.;MK08_HUMAN;.;.	Q	239	ENSP00000363304:E239Q;ENSP00000363297:E239Q;ENSP00000363294:E239Q;ENSP00000353483:E239Q;ENSP00000363291:E239Q	ENSP00000353483:E239Q	E	+	1	0	MAPK8	49303963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	GAA		0.318	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			3	39	0	0	0	0	3	39				
CSTF2T	23283	broad.mit.edu	37	10	53458085	53458085	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:53458085C>A	ENST00000331173.4	-	1	1270	c.1225G>T	c.(1225-1227)Ggt>Tgt	p.G409C	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	409	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCACCTCTACCATCCATAGGT	0.522																																						uc001jjp.2		NA																	0				ovary(1)	1						c.(1225-1227)GGT>TGT		cleavage stimulation factor, 3' pre-RNA, subunit							154.0	150.0	152.0					10																	53458085		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458085C>A	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1225G>T	10.37:g.53458085C>A	ENSP00000332444:p.Gly409Cys					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.G409C	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	1271	-			409			Gly-rich.		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.1225G>T	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609956	0.46527	.	.	ENSG00000177613	ENST00000331173	T	0.26660	1.72	5.22	5.22	0.72569	.	0.123960	0.52532	D	0.000066	T	0.37461	0.1004	N	0.24115	0.695	0.29208	N	0.874779	D	0.89917	1.0	D	0.70487	0.969	T	0.16394	-1.0404	10	0.72032	D	0.01	-4.7247	16.6904	0.85320	0.0:1.0:0.0:0.0	.	409	Q9H0L4	CSTFT_HUMAN	C	409	ENSP00000332444:G409C	ENSP00000332444:G409C	G	-	1	0	CSTF2T	53128091	0.006000	0.16342	0.996000	0.52242	0.710000	0.40934	0.326000	0.19646	2.894000	0.99253	0.655000	0.94253	GGT		0.522	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		25	115	1	0	2.13e-12	4.37e-12	25	115				
CCDC6	8030	broad.mit.edu	37	10	61592413	61592413	+	Splice_Site	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:61592413T>A	ENST00000263102.6	-	3	685		c.e3-2			NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		ATGCTGCAACTGGAAAATGAA	0.398			T	RET	NSCLC																																	uc001jks.3		NA		Dom	yes		10	10q21	8030		coiled-coil domain containing 6			E					0				ovary(3)|breast(1)	4						c.e3-1		coiled-coil domain containing 6							108.0	96.0	100.0					10																	61592413		2203	4300	6503	SO:0001630	splice_region_variant	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61592413T>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.454-2A>T	10.37:g.61592413T>A							p.L152_splice	NM_005436	NP_005427	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	3	1090	-								Q15250|Q6GSG7	Splice_Site	SNP	ENST00000263102.6	37	c.454_splice	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719299	0.89205	.	.	ENSG00000108091	ENST00000263102	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0971	0.81132	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC6	61262419	1.000000	0.71417	0.983000	0.44433	0.960000	0.62799	7.645000	0.83430	2.279000	0.76181	0.533000	0.62120	.		0.398	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436	Intron	6	28	0	0	0	0	6	28				
CCDC6	8030	broad.mit.edu	37	10	61666097	61666097	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:61666097G>C	ENST00000263102.6	-	1	317	c.86C>G	c.(85-87)tCg>tGg	p.S29W		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	29						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		gccCGAGGTCGACGAGCAGGA	0.756			T	RET	NSCLC																																	uc001jks.3		NA		Dom	yes		10	10q21	8030		coiled-coil domain containing 6			E					0				ovary(3)|breast(1)	4						c.(85-87)TCG>TGG		coiled-coil domain containing 6							9.0	14.0	13.0					10																	61666097		1862	3764	5626	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666097G>C	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.86C>G	10.37:g.61666097G>C	ENSP00000263102:p.Ser29Trp						p.S29W	NM_005436	NP_005427	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	722	-			29					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.86C>G	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283570	0.80803	.	.	ENSG00000108091	ENST00000263102	D	0.83755	-1.76	4.31	4.31	0.51392	.	0.785035	0.11549	N	0.552960	T	0.81612	0.4859	L	0.34521	1.04	0.48762	D	0.999704	P	0.38078	0.617	P	0.45276	0.475	T	0.81015	-0.1124	10	0.66056	D	0.02	-4.0538	14.6998	0.69147	0.0:0.0:1.0:0.0	.	29	Q16204	CCDC6_HUMAN	W	29	ENSP00000263102:S29W	ENSP00000263102:S29W	S	-	2	0	CCDC6	61336103	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.228000	0.72288	2.397000	0.81536	0.655000	0.94253	TCG		0.756	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		5	41	0	0	0	0	5	41				
LRRTM3	347731	broad.mit.edu	37	10	68687295	68687295	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:68687295C>G	ENST00000361320.4	+	2	1199	c.621C>G	c.(619-621)ctC>ctG	p.L207L	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	207					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGATCAGACTCAAAGAACTTC	0.458																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(619-621)CTC>CTG		leucine rich repeat transmembrane neuronal 3							100.0	102.0	101.0					10																	68687295		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68687295C>G	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.621C>G	10.37:g.68687295C>G						CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.L207L	p.L207L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1171	+			207			Extracellular (Potential).|LRR 7.		A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.621C>G	CCDS7270.1																																																																																				0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		10	120	0	0	0	0	10	120				
HERC4	26091	broad.mit.edu	37	10	69785429	69785429	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:69785429C>A	ENST00000395198.3	-	8	1029	c.782G>T	c.(781-783)gGt>gTt	p.G261V	HERC4_ENST00000412272.2_Missense_Mutation_p.G261V|HERC4_ENST00000373700.4_Missense_Mutation_p.G261V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.G151V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	261					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAACACTCCACCTTCCTAAAA	0.358																																						uc001jng.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(781-783)GGT>GTT		hect domain and RLD 4 isoform a							97.0	103.0	101.0					10																	69785429		2203	4300	6503	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69785429C>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.782G>T	10.37:g.69785429C>A	ENSP00000378624:p.Gly261Val					HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.G261V|HERC4_uc009xpr.2_Missense_Mutation_p.G261V|HERC4_uc001jni.3_Missense_Mutation_p.G5V|HERC4_uc001jnj.2_Missense_Mutation_p.G261V	p.G261V	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			8	1093	-			261			RCC1 6.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.782G>T	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698242	0.88830	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69	5.22	5.22	0.72569	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.047260	0.85682	D	0.000000	D	0.99417	0.9794	H	0.99516	4.605	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.982;0.999;0.999;0.996;0.998	D	0.98048	1.0386	10	0.87932	D	0	.	18.7616	0.91853	0.0:1.0:0.0:0.0	.	261;261;111;261;261	Q5GLZ8-3;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	V	151;261;261;261	ENSP00000277817:G151V;ENSP00000416504:G261V;ENSP00000378624:G261V;ENSP00000362804:G261V	ENSP00000277817:G151V	G	-	2	0	HERC4	69455435	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.424000	0.82194	0.591000	0.81541	GGT		0.358	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		12	65	1	0	1.09e-07	2.07e-07	12	65				
RUFY2	55680	broad.mit.edu	37	10	70164518	70164518	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:70164518G>C	ENST00000602465.1	-	2	188	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.L30V|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000342616.4_Missense_Mutation_p.L30V|RUFY2_ENST00000388768.2_Missense_Mutation_p.L65V			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	79						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CCAAAGCTCAGAGCAGATTCA	0.428																																						uc001job.2		NA																	0				ovary(1)	1						c.(193-195)CTG>GTG		RUN and FYVE domain-containing 2 isoform a							162.0	156.0	158.0					10																	70164518		1910	4119	6029	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70164518G>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.88C>G	10.37:g.70164518G>C	ENSP00000473462:p.Leu30Val					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.L30V|RUFY2_uc010qiw.1_Intron|RUFY2_uc001jod.1_Missense_Mutation_p.L30V|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.L30V	p.L65V	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			2	520	-			79					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.193C>G		.	.	.	.	.	.	.	.	.	.	G	18.43	3.623076	0.66901	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000342616	T;T;T	0.11385	2.78;2.78;2.78	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000002	T	0.22742	0.0549	L	0.42245	1.32	0.80722	D	1	B;P;D;P	0.67145	0.415;0.892;0.996;0.892	B;P;D;P	0.72625	0.213;0.864;0.978;0.864	T	0.00311	-1.1827	10	0.52906	T	0.07	.	11.3975	0.49851	0.0962:0.0:0.9038:0.0	.	30;30;30;65	Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	V	65;30;30	ENSP00000373420:L65V;ENSP00000382151:L30V;ENSP00000341727:L30V	ENSP00000341727:L30V	L	-	1	2	RUFY2	69834524	1.000000	0.71417	0.863000	0.33907	0.927000	0.56198	3.586000	0.53950	2.333000	0.79357	0.561000	0.74099	CTG		0.428	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		8	38	0	0	0	0	8	38				
ANXA7	310	broad.mit.edu	37	10	75156946	75156946	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:75156946C>A	ENST00000372921.5	-	4	402	c.346G>T	c.(346-348)Ggt>Tgt	p.G116C	ANXA7_ENST00000535178.1_Intron|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	116	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TGTGCTGGACCACCTCCATAA	0.463																																						uc001jtz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(346-348)GGT>TGT		annexin VII isoform 2							66.0	56.0	60.0					10																	75156946		2203	4300	6503	SO:0001583	missense	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75156946C>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.346G>T	10.37:g.75156946C>A	ENSP00000362012:p.Gly116Cys					ANXA7_uc001jua.2_Missense_Mutation_p.G116C|ANXA7_uc001jub.2_Missense_Mutation_p.G76C|ANXA7_uc010qki.1_Intron|ANXA7_uc009xre.2_Missense_Mutation_p.G45C|ANXA7_uc009xrf.1_Intron	p.G116C	NM_004034	NP_004025	P20073	ANXA7_HUMAN			4	419	-	Prostate(51;0.0119)		116			Repeat-rich region.		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	c.346G>T	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087309	0.36855	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000394847	T;T	0.02050	4.51;4.48	5.21	4.23	0.50019	.	0.850872	0.10369	N	0.683090	T	0.05686	0.0149	L	0.54323	1.7	0.58432	D	0.999997	P;P;P	0.50710	0.898;0.938;0.898	P;P;B	0.50136	0.557;0.632;0.428	T	0.47394	-0.9121	10	0.40728	T	0.16	.	10.3988	0.44218	0.0:0.8909:0.0:0.1091	.	43;116;116	B4DWU2;P20073-2;P20073	.;.;ANXA7_HUMAN	C	116	ENSP00000362012:G116C;ENSP00000362010:G116C	ENSP00000362010:G116C	G	-	1	0	ANXA7	74826952	0.927000	0.31430	0.144000	0.22314	0.008000	0.06430	1.456000	0.35201	1.179000	0.42884	0.555000	0.69702	GGT		0.463	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		6	25	1	0	0.00307968	0.00513587	6	25				
POLR3A	11128	broad.mit.edu	37	10	79784811	79784811	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:79784811G>A	ENST00000372371.3	-	4	545	c.408C>T	c.(406-408)taC>taT	p.Y136Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	136					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTTCTGAAGGTAGGTCAGGC	0.463																																						uc001jzn.2		NA																	0					0						c.(406-408)TAC>TAT		polymerase (RNA) III (DNA directed) polypeptide							118.0	113.0	114.0					10																	79784811		2203	4300	6503	SO:0001819	synonymous_variant	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79784811G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.408C>T	10.37:g.79784811G>A							p.Y136Y	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		4	502	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		136					Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	c.408C>T	CCDS7354.1																																																																																				0.463	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		18	83	0	0	0	0	18	83				
LRIT1	26103	broad.mit.edu	37	10	85991723	85991723	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:85991723C>G	ENST00000372105.3	-	4	1853	c.1832G>C	c.(1831-1833)gGa>gCa	p.G611A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	611						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCCTTTGACTCCAAAGGCCTG	0.577																																						uc001kcz.1		NA																	0					0						c.(1831-1833)GGA>GCA		retina specific protein PAL							77.0	59.0	65.0					10																	85991723		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85991723C>G	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1832G>C	10.37:g.85991723C>G	ENSP00000361177:p.Gly611Ala						p.G611A	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1854	-			611			Cytoplasmic (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1832G>C	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.029956	0.00410	.	.	ENSG00000148602	ENST00000372105	T	0.32515	1.45	4.29	2.42	0.29668	.	0.278256	0.34906	N	0.003596	T	0.18718	0.0449	L	0.36672	1.1	0.09310	N	1	B	0.14805	0.011	B	0.20184	0.028	T	0.22661	-1.0210	10	0.12766	T	0.61	.	5.5565	0.17119	0.1939:0.7056:0.0:0.1005	.	611	Q9P2V4	LRIT1_HUMAN	A	611	ENSP00000361177:G611A	ENSP00000361177:G611A	G	-	2	0	LRIT1	85981703	0.017000	0.18338	0.007000	0.13788	0.018000	0.09664	1.489000	0.35562	0.745000	0.32763	0.591000	0.81541	GGA		0.577	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		5	23	0	0	0	0	5	23				
C10orf12	26148	broad.mit.edu	37	10	98741788	98741788	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:98741788A>T	ENST00000286067.2	+	1	748	c.641A>T	c.(640-642)cAc>cTc	p.H214L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	214										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAAATTTACACTCCCAGGAA	0.458																																						uc001kmv.2		NA																	0				skin(2)	2						c.(640-642)CAC>CTC		hypothetical protein LOC26148							92.0	91.0	91.0					10																	98741788		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741788A>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.641A>T	10.37:g.98741788A>T	ENSP00000286067:p.His214Leu					C10orf12_uc009xvg.1_Missense_Mutation_p.H524L	p.H214L	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	748	+		Colorectal(252;0.172)	214					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.641A>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	8.468	0.856957	0.17106	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.06768	3.26	6.05	3.74	0.42951	.	0.925325	0.09010	N	0.861614	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	P;P	0.38078	0.617;0.617	B;B	0.31101	0.124;0.124	T	0.35251	-0.9796	10	0.17832	T	0.49	0.0083	5.9931	0.19478	0.7061:0.0:0.2939:0.0	.	48;214	A0PJI9;Q8N655	.;CJ012_HUMAN	L	214;48	ENSP00000286067:H214L	ENSP00000286067:H214L	H	+	2	0	C10orf12	98731778	0.002000	0.14202	0.839000	0.33178	0.988000	0.76386	0.970000	0.29383	1.128000	0.42052	0.533000	0.62120	CAC		0.458	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		20	94	0	0	0	0	20	94				
DUSP5	1847	broad.mit.edu	37	10	112269778	112269778	+	Splice_Site	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:112269778A>T	ENST00000369583.3	+	4	1033	c.749A>T	c.(748-750)gAc>gTc	p.D250V	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	250	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTCCTTCCAGACTGTGTCAGG	0.483																																						uc001kzd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(748-750)GAC>GTC		dual specificity phosphatase 5							58.0	59.0	59.0					10																	112269778		2203	4300	6503	SO:0001630	splice_region_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112269778A>T	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.749-1A>T	10.37:g.112269778A>T							p.D250V	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	4	1004	+		Breast(234;0.0848)	250			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.749A>T	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556361	0.86231	.	.	ENSG00000138166	ENST00000369583	T	0.61859	0.07	6.08	6.08	0.98989	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.042355	0.85682	D	0.000000	T	0.81856	0.4911	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86205	0.1621	9	.	.	.	.	15.825	0.78698	1.0:0.0:0.0:0.0	.	250	Q16690	DUS5_HUMAN	V	250	ENSP00000358596:D250V	.	D	+	2	0	DUSP5	112259768	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GAC		0.483	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419	Missense_Mutation	8	68	0	0	0	0	8	68				
TRUB1	142940	broad.mit.edu	37	10	116698023	116698023	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:116698023C>G	ENST00000298746.3	+	1	72	c.11C>G	c.(10-12)tCt>tGt	p.S4C		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	4					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATGGCCGCTTCTGAGGCGGCG	0.572																																						uc001lcd.2		NA																	0					0						c.(10-12)TCT>TGT		TruB pseudouridine (psi) synthase homolog 1							56.0	56.0	56.0					10																	116698023		2203	4300	6503	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116698023C>G	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.11C>G	10.37:g.116698023C>G	ENSP00000298746:p.Ser4Cys					TRUB1_uc010qsl.1_Intron	p.S4C	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	1	72	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	4					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.11C>G	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098432	0.37048	.	.	ENSG00000165832	ENST00000298746	T	0.46819	0.86	5.65	-1.36	0.09085	.	1.260370	0.05419	N	0.543803	T	0.25232	0.0613	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24548	-1.0157	10	0.66056	D	0.02	0.8223	3.3582	0.07177	0.3668:0.2902:0.2655:0.0775	.	4	Q8WWH5	TRUB1_HUMAN	C	4	ENSP00000298746:S4C	ENSP00000298746:S4C	S	+	2	0	TRUB1	116688013	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.444000	0.21661	-0.076000	0.12775	-0.119000	0.15052	TCT		0.572	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		5	51	0	0	0	0	5	51				
ATRNL1	26033	broad.mit.edu	37	10	116853721	116853721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:116853721C>A	ENST00000355044.3	+	1	338	c.212C>A	c.(211-213)tCg>tAg	p.S71*	ATRNL1_ENST00000527407.1_Nonsense_Mutation_p.S71*|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	71	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCCTGCTTCTCGGGCCGCTGT	0.662																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(211-213)TCG>TAG		attractin-like 1 precursor							18.0	17.0	17.0					10																	116853721		2167	4243	6410	SO:0001587	stop_gained	26033					integral to membrane	sugar binding	g.chr10:116853721C>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.212C>A	10.37:g.116853721C>A	ENSP00000347152:p.Ser71*					ATRNL1_uc001lce.2_Intron|ATRNL1_uc001lcf.2_Nonsense_Mutation_p.S71*|ATRNL1_uc009xyq.2_Nonsense_Mutation_p.S71*	p.S71*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	1	598	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	71			EGF-like 1.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	c.212C>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	39	7.694180	0.98438	.	.	ENSG00000107518	ENST00000355044	.	.	.	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0238	17.1243	0.86710	0.0:1.0:0.0:0.0	.	.	.	.	X	71	.	ENSP00000347152:S71X	S	+	2	0	ATRNL1	116843711	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	6.878000	0.75567	2.004000	0.58718	0.563000	0.77884	TCG		0.662	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		7	20	1	0	0.00198382	0.00332627	7	20				
PNLIPRP3	119548	broad.mit.edu	37	10	118196325	118196325	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:118196325A>T	ENST00000369230.3	+	2	298	c.152A>T	c.(151-153)aAg>aTg	p.K51M		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	51					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTCCAGAGAAGATAAACACT	0.403																																						uc001lcl.3		NA																	0				ovary(1)	1						c.(151-153)AAG>ATG		pancreatic lipase-related protein 3 precursor							170.0	157.0	161.0					10																	118196325		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118196325A>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.152A>T	10.37:g.118196325A>T	ENSP00000358232:p.Lys51Met						p.K51M	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	2	253	+			51						Missense_Mutation	SNP	ENST00000369230.3	37	c.152A>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.305703	0.23736	.	.	ENSG00000203837	ENST00000369230	D	0.90900	-2.75	4.56	2.05	0.26809	Lipase, N-terminal (1);	0.521480	0.15846	N	0.241764	D	0.85860	0.5795	L	0.31845	0.965	0.09310	N	1	B	0.31077	0.307	B	0.36335	0.222	T	0.75883	-0.3160	10	0.46703	T	0.11	.	11.3333	0.49490	0.5609:0.4391:0.0:0.0	.	51	Q17RR3	LIPR3_HUMAN	M	51	ENSP00000358232:K51M	ENSP00000358232:K51M	K	+	2	0	PNLIPRP3	118186315	0.024000	0.19004	0.148000	0.22405	0.952000	0.60782	1.287000	0.33284	0.276000	0.22118	-0.321000	0.08615	AAG		0.403	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		13	82	0	0	0	0	13	82				
EIF3A	8661	broad.mit.edu	37	10	120809438	120809438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:120809438G>A	ENST00000369144.3	-	17	2660	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	EIF3A_ENST00000541549.1_Nonsense_Mutation_p.Q811*	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACCCGCTCCTGATACTCTCGT	0.493																																						uc001ldu.2		NA																	0					0						c.(2533-2535)CAG>TAG		eukaryotic translation initiation factor 3,							180.0	175.0	176.0					10																	120809438		2203	4300	6503	SO:0001587	stop_gained	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120809438G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2533C>T	10.37:g.120809438G>A	ENSP00000358140:p.Gln845*					EIF3A_uc010qsu.1_Nonsense_Mutation_p.Q811*|EIF3A_uc009xzg.1_5'UTR	p.Q845*	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	17	2679	-		Lung NSC(174;0.094)|all_lung(145;0.123)	845			Glu-rich.		B7ZBG9|Q6IBN8|Q96TD5	Nonsense_Mutation	SNP	ENST00000369144.3	37	c.2533C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	42	9.658659	0.99231	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	.	.	.	4.82	4.82	0.62117	.	0.000000	0.35739	U	0.003001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-19.8823	18.7902	0.91971	0.0:0.0:1.0:0.0	.	.	.	.	X	845;811	.	ENSP00000358140:Q845X	Q	-	1	0	EIF3A	120799428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.871000	0.92346	2.609000	0.88269	0.655000	0.94253	CAG		0.493	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		11	176	0	0	0	0	11	176				
MCMBP	79892	broad.mit.edu	37	10	121618670	121618670	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:121618670G>T	ENST00000360003.3	-	3	337	c.168C>A	c.(166-168)ccC>ccA	p.P56P	MCMBP_ENST00000369077.3_Silent_p.P56P|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	56					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AATAATGAAGGGGAACTTCGT	0.328																																						uc001ler.2		NA																	0					0						c.(166-168)CCC>CCA		chromosome 10 open reading frame 119							58.0	59.0	59.0					10																	121618670		2203	4299	6502	SO:0001819	synonymous_variant	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121618670G>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.168C>A	10.37:g.121618670G>T						C10orf119_uc001les.1_5'UTR	p.P56P	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)	3	466	-		Lung NSC(174;0.109)|all_lung(145;0.142)	56					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	c.168C>A	CCDS7617.1																																																																																				0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		11	29	1	0	6.4e-05	0.000113193	11	29				
SEC23IP	11196	broad.mit.edu	37	10	121689212	121689212	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:121689212G>C	ENST00000369075.3	+	14	2479	c.2407G>C	c.(2407-2409)Gat>Cat	p.D803H	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D592H|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	803	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCGAGGAGTTGATAGGATAGA	0.353																																						uc001leu.1		NA																	0				ovary(3)	3						c.(2407-2409)GAT>CAT		Sec23-interacting protein p125							142.0	144.0	143.0					10																	121689212		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121689212G>C	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2407G>C	10.37:g.121689212G>C	ENSP00000358071:p.Asp803His					SEC23IP_uc010qtc.1_Missense_Mutation_p.D592H|SEC23IP_uc009xzk.1_RNA	p.D803H	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	14	2479	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	803			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.2407G>C	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886277	0.51908	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.33216	1.42;1.44	5.48	4.57	0.56435	DDHD (2);	0.189065	0.56097	N	0.000035	T	0.30759	0.0775	L	0.47016	1.485	0.40818	D	0.983487	B;B	0.12630	0.004;0.006	B;B	0.17979	0.009;0.02	T	0.07102	-1.0790	10	0.44086	T	0.13	-9.5472	16.2867	0.82725	0.0:0.1329:0.8671:0.0	.	592;803	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	H	803;592	ENSP00000358071:D803H;ENSP00000438773:D592H	ENSP00000358071:D803H	D	+	1	0	SEC23IP	121679202	1.000000	0.71417	0.982000	0.44146	0.940000	0.58332	5.438000	0.66550	1.304000	0.44892	0.467000	0.42956	GAT		0.353	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			4	115	0	0	0	0	4	115				
DOCK1	1793	broad.mit.edu	37	10	129179577	129179577	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:129179577G>C	ENST00000280333.6	+	37	3798	c.3689G>C	c.(3688-3690)tGt>tCt	p.C1230S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1230	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CACAAGGAGTGTGATAACTAC	0.373																																						uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(3688-3690)TGT>TCT		dedicator of cytokinesis 1							177.0	164.0	168.0					10																	129179577		1876	4124	6000	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129179577G>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3689G>C	10.37:g.129179577G>C	ENSP00000280333:p.Cys1230Ser					DOCK1_uc010qun.1_Missense_Mutation_p.C1251S|DOCK1_uc009yaq.2_Missense_Mutation_p.C225S	p.C1230S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	37	3753	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1230			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.3689G>C		.	.	.	.	.	.	.	.	.	.	G	17.34	3.366176	0.61513	.	.	ENSG00000150760	ENST00000280333	T	0.66460	-0.21	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.59967	1.855	0.80722	D	1	B;P;P	0.46706	0.343;0.883;0.504	B;B;B	0.42138	0.124;0.377;0.107	T	0.71609	-0.4541	10	0.52906	T	0.07	.	18.3292	0.90263	0.0:0.0:1.0:0.0	.	1230;1296;1230	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	S	1230	ENSP00000280333:C1230S	ENSP00000280333:C1230S	C	+	2	0	DOCK1	129069567	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.428000	0.97476	2.561000	0.86390	0.655000	0.94253	TGT		0.373	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		40	78	0	0	0	0	40	78				
MKI67	4288	broad.mit.edu	37	10	129906158	129906158	+	Missense_Mutation	SNP	G	G	C	rs201996567		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:129906158G>C	ENST00000368654.3	-	13	4321	c.3946C>G	c.(3946-3948)Cca>Gca	p.P1316A	MKI67_ENST00000368653.3_Missense_Mutation_p.P956A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1316	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTGCACTGGAGTTCCCACA	0.507																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3946-3948)CCA>GCA		antigen identified by monoclonal antibody Ki-67		G	ALA/PRO,ALA/PRO	3,4403	8.1+/-20.4	0,3,2200	214.0	206.0	209.0		2866,3946	-0.2	0.0	10		209	0,8600		0,0,4300	yes	missense,missense	MKI67	NM_001145966.1,NM_002417.4	27,27	0,3,6500	CC,CG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging	956/2897,1316/3257	129906158	3,13003	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906158G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3946C>G	10.37:g.129906158G>C	ENSP00000357643:p.Pro1316Ala					MKI67_uc001lkf.2_Missense_Mutation_p.P956A|MKI67_uc009yav.1_Missense_Mutation_p.P891A|MKI67_uc009yaw.1_Missense_Mutation_p.P466A	p.P1316A	NM_002417	NP_002408	P46013	KI67_HUMAN			13	4141	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1316			16 X 122 AA approximate repeats.|3.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3946C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351139	0.24512	6.81E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02121	4.44;4.44	2.87	-0.171	0.13331	.	0.831232	0.10045	N	0.722965	T	0.05914	0.0154	L	0.56280	1.765	0.09310	N	1	P;P;D	0.67145	0.506;0.703;0.996	B;B;D	0.63192	0.145;0.202;0.912	T	0.39840	-0.9594	10	0.32370	T	0.25	.	4.6648	0.12660	0.3894:0.1781:0.4325:0.0	.	1315;956;1316	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	1316;956;1315	ENSP00000357643:P1316A;ENSP00000357642:P956A	ENSP00000357642:P956A	P	-	1	0	MKI67	129796148	0.001000	0.12720	0.002000	0.10522	0.026000	0.11368	0.043000	0.13971	-0.036000	0.13669	-0.311000	0.09066	CCA		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		23	275	0	0	0	0	23	275				
LRRC56	115399	broad.mit.edu	37	11	549902	549902	+	Splice_Site	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:549902G>T	ENST00000270115.7	+	7	827	c.327G>T	c.(325-327)agG>agT	p.R109S		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	109										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTCTGCAGGGACTTGGGCA	0.627																																						uc010qvz.1		NA																	0				skin(1)	1						c.(325-327)AGG>AGT		leucine rich repeat containing 56							58.0	52.0	54.0					11																	549902		2203	4299	6502	SO:0001630	splice_region_variant	115399							g.chr11:549902G>T		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.327-1G>T	11.37:g.549902G>T							p.R109S	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	832	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	109			LRR 1.		Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.327G>T	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165950	0.38217	.	.	ENSG00000161328	ENST00000270115	T	0.22336	1.96	4.71	-3.01	0.05463	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.33650	-0.9860	9	.	.	.	.	11.525	0.50573	0.4291:0.0:0.5709:0.0	.	109	Q8IYG6	LRC56_HUMAN	S	109	ENSP00000270115:R109S	.	R	+	3	2	LRRC56	539902	1.000000	0.71417	0.971000	0.41717	0.428000	0.31595	0.886000	0.28241	-0.469000	0.06911	-0.229000	0.12294	AGG		0.627	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075	Missense_Mutation	12	31	1	0	7.04e-09	1.37e-08	12	31				
EPS8L2	64787	broad.mit.edu	37	11	722485	722485	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:722485G>A	ENST00000533256.1	+	14	1519	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	EPS8L2_ENST00000526198.1_Missense_Mutation_p.G398S|EPS8L2_ENST00000318562.8_Missense_Mutation_p.G382S|EPS8L2_ENST00000530636.1_Missense_Mutation_p.G382S|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	382					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCCTGCGCGGCCACCTGGT	0.662																																						uc001lqt.2		NA																	0				pancreas(1)	1						c.(1144-1146)GGC>AGC		epidermal growth factor receptor pathway							63.0	56.0	58.0					11																	722485		2203	4300	6503	SO:0001583	missense	64787					cytoplasm		g.chr11:722485G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1144G>A	11.37:g.722485G>A	ENSP00000435585:p.Gly382Ser					EPS8L2_uc001lqu.2_Missense_Mutation_p.G382S|EPS8L2_uc010qwk.1_Missense_Mutation_p.G398S|EPS8L2_uc001lqv.2_Missense_Mutation_p.G337S|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'UTR|EPS8L2_uc001lqy.2_5'Flank	p.G382S	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1391	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	382					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1144G>A	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	g	16.36	3.101358	0.56183	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	3.13	2.2	0.27929	.	0.165190	0.38058	U	0.001828	T	0.27134	0.0665	L	0.46157	1.445	0.44728	D	0.99772	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.06972	-1.0797	10	0.13108	T	0.6	-28.3578	9.2014	0.37260	0.1142:0.0:0.8858:0.0	.	398;382	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	S	382;382;382;398	ENSP00000320828:G382S;ENSP00000435585:G382S;ENSP00000436035:G382S;ENSP00000436230:G398S	ENSP00000320828:G382S	G	+	1	0	EPS8L2	712485	1.000000	0.71417	0.917000	0.36280	0.920000	0.55202	5.636000	0.67848	0.670000	0.31165	0.486000	0.48141	GGC		0.662	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		9	31	0	0	0	0	9	31				
TRIM34	53840	broad.mit.edu	37	11	5656091	5656091	+	Splice_Site	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:5656091G>C	ENST00000514226.1	+	4	1087	c.750G>C	c.(748-750)caG>caC	p.Q250H	TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.Q604H|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Splice_Site_p.Q250H|TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000457787.2_Splice_Site_p.Q250H	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	250					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGCTGCAGGTAAGAAGGT	0.517																																						uc001mbf.2		NA																	0				ovary(1)	1						c.(1810-1812)CAG>CAC		tripartite motif-containing 6 and tripartite							93.0	79.0	84.0					11																	5656091		2201	4297	6498	SO:0001630	splice_region_variant	445372					intracellular	zinc ion binding	g.chr11:5656091G>C	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.750+1G>C	11.37:g.5656091G>C						HBG2_uc001mak.1_Intron|TRIM34_uc001mbh.2_Missense_Mutation_p.Q250H|TRIM34_uc009yeq.2_Missense_Mutation_p.Q5H|TRIM34_uc001mbi.2_Missense_Mutation_p.Q250H|TRIM34_uc001mbj.2_Missense_Mutation_p.Q250H	p.Q604H	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	10	2056	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	604					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1812G>C	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429859	0.43122	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	3.4	2.48	0.30137	.	0.000000	0.32655	N	0.005820	T	0.31327	0.0793	M	0.92923	3.36	0.25616	N	0.98645	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.984;0.999	T	0.08006	-1.0743	10	0.72032	D	0.01	.	6.5642	0.22503	0.1312:0.0:0.8688:0.0	.	250;250;604	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	H	604;250;250;250;604	ENSP00000422947:Q250H;ENSP00000402595:Q250H;ENSP00000395982:Q250H;ENSP00000346916:Q604H	ENSP00000402595:Q250H	Q	+	3	2	TRIM34;TRIM6-TRIM34	5612667	1.000000	0.71417	0.994000	0.49952	0.563000	0.35712	3.953000	0.56699	1.007000	0.39238	0.655000	0.94253	CAG		0.517	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	Missense_Mutation	7	19	0	0	0	0	7	19				
TRIM22	10346	broad.mit.edu	37	11	5717502	5717502	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:5717502A>T	ENST00000379965.3	+	2	317	c.40A>T	c.(40-42)Acc>Tcc	p.T14S	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	14					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAGGAGGTGACCTGCCCCAT	0.507																																					GBM(104;491 2336 5222)	uc001mbr.2		NA																	0					0						c.(40-42)ACC>TCC		tripartite motif-containing 22							88.0	93.0	92.0					11																	5717502		2201	4297	6498	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5717502A>T	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.40A>T	11.37:g.5717502A>T	ENSP00000369299:p.Thr14Ser					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.T14S|TRIM22_uc009yes.2_Missense_Mutation_p.T14S|TRIM22_uc010qzm.1_5'UTR|TRIM22_uc009yeu.2_5'UTR	p.T14S	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	2	317	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	14					Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.40A>T	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631073	0.67015	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641;ENST00000455293	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	4.82	4.82	0.62117	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	D	0.86481	0.5943	L	0.41573	1.285	0.25155	N	0.990399	D;P;P	0.56968	0.978;0.828;0.479	P;P;B	0.56398	0.797;0.514;0.338	T	0.79057	-0.1959	9	0.59425	D	0.04	.	12.6431	0.56720	1.0:0.0:0.0:0.0	.	14;14;14	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	S	14	ENSP00000369299:T14S;ENSP00000400417:T14S;ENSP00000393250:T14S;ENSP00000396849:T14S	ENSP00000369299:T14S	T	+	1	0	TRIM22	5674078	0.970000	0.33590	0.982000	0.44146	0.916000	0.54674	3.342000	0.52159	1.961000	0.56991	0.383000	0.25322	ACC		0.507	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		16	46	0	0	0	0	16	46				
OR56B4	196335	broad.mit.edu	37	11	6129218	6129218	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:6129218C>A	ENST00000316529.3	+	1	305	c.210C>A	c.(208-210)ggC>ggA	p.G70G	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTGCTGGGCATATTAGCAG	0.502																																						uc010qzx.1		NA																	0				central_nervous_system(1)	1						c.(208-210)GGC>GGA		olfactory receptor, family 56, subfamily B,							96.0	83.0	87.0					11																	6129218		2201	4296	6497	SO:0001819	synonymous_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129218C>A	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.210C>A	11.37:g.6129218C>A							p.G70G	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	210	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	70			Helical; Name=2; (Potential).		Q6IFD7	Silent	SNP	ENST00000316529.3	37	c.210C>A	CCDS31406.1																																																																																				0.502	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		11	34	1	0	3.86e-05	6.86e-05	11	34				
SYT9	143425	broad.mit.edu	37	11	7437333	7437333	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:7437333C>A	ENST00000318881.6	+	4	1342	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	369	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		GGCTGGCAGGCTGACCATTAC	0.433																																						uc001mfe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1105-1107)CTG>ATG		synaptotagmin IX							152.0	138.0	143.0					11																	7437333		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7437333C>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.1105C>A	11.37:g.7437333C>A	ENSP00000324419:p.Leu369Met					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.L369M	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	4	1342	+			369			Cytoplasmic (Potential).|C2 2.			Missense_Mutation	SNP	ENST00000318881.6	37	c.1105C>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245221	0.59103	.	.	ENSG00000170743	ENST00000318881	D	0.83755	-1.76	4.85	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.42548	D	0.000689	D	0.90943	0.7153	M	0.89968	3.075	0.80722	D	1	P	0.45634	0.863	P	0.55871	0.786	D	0.91311	0.5074	10	0.45353	T	0.12	.	15.8291	0.78739	0.0:1.0:0.0:0.0	.	369	Q86SS6	SYT9_HUMAN	M	369	ENSP00000324419:L369M	ENSP00000324419:L369M	L	+	1	2	SYT9	7393909	0.902000	0.30710	1.000000	0.80357	0.994000	0.84299	0.027000	0.13621	2.675000	0.91044	0.655000	0.94253	CTG		0.433	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		22	46	1	0	1.11e-09	2.18e-09	22	46				
ST5	6764	broad.mit.edu	37	11	8724239	8724239	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:8724239G>A	ENST00000534127.1	-	17	2985	c.2600C>T	c.(2599-2601)tCa>tTa	p.S867L	ST5_ENST00000534278.1_Missense_Mutation_p.S58L|ST5_ENST00000530991.1_Missense_Mutation_p.S339L|ST5_ENST00000357665.1_Missense_Mutation_p.S867L|ST5_ENST00000526099.1_Missense_Mutation_p.S380L|ST5_ENST00000530438.1_Missense_Mutation_p.S447L|ST5_ENST00000526757.1_Missense_Mutation_p.S447L|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.S867L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	867	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCAGCCTTGAGTCCATGGG	0.622																																						uc001mgt.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2599-2601)TCA>TTA		suppression of tumorigenicity 5 isoform 1							72.0	67.0	68.0					11																	8724239		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8724239G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2600C>T	11.37:g.8724239G>A	ENSP00000433528:p.Ser867Leu					ST5_uc009yfr.2_Missense_Mutation_p.S447L|ST5_uc001mgu.2_Missense_Mutation_p.S447L|ST5_uc001mgv.2_Missense_Mutation_p.S867L|ST5_uc010rbp.1_Missense_Mutation_p.S380L|ST5_uc009yfs.2_RNA	p.S867L	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	14	2786	-			867			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2600C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	g	18.88	3.717147	0.68844	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438;ENST00000533081;ENST00000533020	T;T;T;T;T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65	4.72	3.77	0.43336	DENN (3);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.84846	2.72	0.80722	D	1	B;B;P	0.50272	0.002;0.073;0.933	B;B;P	0.58391	0.026;0.108;0.838	T	0.43147	-0.9409	10	0.66056	D	0.02	-13.0938	14.8889	0.70590	0.0:0.1434:0.8566:0.0	.	380;447;867	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	L	447;867;867;339;867;380;58;447;57;339	ENSP00000435097:S447L;ENSP00000433528:S867L;ENSP00000319678:S867L;ENSP00000432887:S339L;ENSP00000350294:S867L;ENSP00000436808:S380L;ENSP00000433349:S58L;ENSP00000436802:S447L;ENSP00000436067:S57L;ENSP00000433588:S339L	ENSP00000319678:S867L	S	-	2	0	ST5	8680815	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.999000	0.88496	2.165000	0.68154	0.486000	0.48141	TCA		0.622	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		9	50	0	0	0	0	9	50				
SCUBE2	57758	broad.mit.edu	37	11	9090930	9090930	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:9090930C>T	ENST00000309263.3	-	5	702	c.630G>A	c.(628-630)caG>caA	p.Q210Q	SCUBE2_ENST00000520467.1_Silent_p.Q210Q|SCUBE2_ENST00000450649.2_Silent_p.Q210Q|SCUBE2_ENST00000457346.2_Silent_p.Q210Q			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	210	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGCAGTCTCTCTGGTTCTTGG	0.577																																						uc001mhh.1		NA																	0				ovary(1)|skin(1)	2						c.(628-630)CAG>CAA		CEGP1 protein precursor							102.0	83.0	89.0					11																	9090930		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9090930C>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.630G>A	11.37:g.9090930C>T						SCUBE2_uc001mhi.1_Silent_p.Q210Q|SCUBE2_uc001mhj.1_Silent_p.Q210Q	p.Q210Q	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	5	710	-			210			EGF-like 4 (Potential).		Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.630G>A																																																																																					0.577	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		20	67	0	0	0	0	20	67				
KCNC1	3746	broad.mit.edu	37	11	17793800	17793800	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:17793800A>T	ENST00000379472.3	+	2	1189	c.1159A>T	c.(1159-1161)Atc>Ttc	p.I387F	KCNC1_ENST00000265969.6_Missense_Mutation_p.I387F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	387					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)	CTTTAAGAACATCCCCATCGG	0.612																																						uc001mnk.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(1159-1161)ATC>TTC		Shaw-related voltage-gated potassium channel							86.0	84.0	85.0					11																	17793800		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793800A>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.1159A>T	11.37:g.17793800A>T	ENSP00000368785:p.Ile387Phe					KCNC1_uc009yhc.1_Missense_Mutation_p.I387F	p.I387F	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	1214	+			387					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.1159A>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.864511	0.71949	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.98012	-4.66;-4.66	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99593	1.0976	10	0.87932	D	0	.	14.9882	0.71365	1.0:0.0:0.0:0.0	.	387;387	Q3KNS8;P48547	.;KCNC1_HUMAN	F	387	ENSP00000265969:I387F;ENSP00000368785:I387F	ENSP00000265969:I387F	I	+	1	0	KCNC1	17750376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.943000	0.56356	0.459000	0.35465	ATC		0.612	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		24	57	0	0	0	0	24	57				
AMBRA1	55626	broad.mit.edu	37	11	46564192	46564192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:46564192G>A	ENST00000458649.2	-	7	1793	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q369*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q459*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q369*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	459					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACAGATGCCTGAGAGCCACCT	0.572																																						uc010rgu.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1375-1377)CAG>TAG		activating molecule in beclin-1-regulated							86.0	80.0	82.0					11																	46564192		2201	4299	6500	SO:0001587	stop_gained	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564192G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1375C>T	11.37:g.46564192G>A	ENSP00000415327:p.Gln459*					AMBRA1_uc010rgt.1_Nonsense_Mutation_p.Q25*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q459*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q369*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.Q369*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q369*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q459*	p.Q459*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1735	-			459					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	37	c.1375C>T		.	.	.	.	.	.	.	.	.	.	G	38	6.877538	0.97904	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	.	.	.	5.69	5.69	0.88448	.	0.351399	0.34200	N	0.004177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.0699	0.59055	0.0733:0.0:0.9267:0.0	.	.	.	.	X	369;369;459;459;459;369;459;459	.	ENSP00000298834:Q459X	Q	-	1	0	AMBRA1	46520768	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.068000	0.64364	2.691000	0.91804	0.563000	0.77884	CAG		0.572	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		10	49	0	0	0	0	10	49				
CKAP5	9793	broad.mit.edu	37	11	46772905	46772905	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:46772905T>C	ENST00000529230.1	-	39	5359	c.5313A>G	c.(5311-5313)aaA>aaG	p.K1771K	CKAP5_ENST00000312055.5_Silent_p.K1711K|CKAP5_ENST00000415402.1_Silent_p.K1771K|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000354558.3_Silent_p.K1711K			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1771					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.K1771K(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTGGGCCCTTTTAATTTGC	0.443																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(5311-5313)AAA>AAG		colonic and hepatic tumor over-expressed protein							165.0	160.0	161.0					11																	46772905		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46772905T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5313A>G	11.37:g.46772905T>C						CKAP5_uc009ylg.1_Silent_p.K1657K|CKAP5_uc001ndj.1_Silent_p.K1711K|CKAP5_uc001ndh.1_Silent_p.K700K	p.K1771K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			39	5423	-			1771					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.5313A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	8.631	0.893624	0.17613	.	.	ENSG00000175216	ENST00000525896	.	.	.	5.72	4.6	0.57074	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55604	-0.8115	4	.	.	.	-13.3618	7.7932	0.29133	0.0:0.1821:0.0:0.8179	.	.	.	.	G	10	.	.	R	-	1	2	CKAP5	46729481	0.978000	0.34361	1.000000	0.80357	0.988000	0.76386	0.096000	0.15147	2.183000	0.69458	0.533000	0.62120	AGG		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		3	120	0	0	0	0	3	120				
OR4C3	256144	broad.mit.edu	37	11	48346907	48346907	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:48346907C>T	ENST00000319856.4	+	1	436	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGAGATCATTCTGCTCACAGT	0.488																																						uc010rhv.1		NA																	0				skin(1)	1						c.(415-417)CTG>TTG		olfactory receptor, family 4, subfamily C,							245.0	230.0	235.0					11																	48346907		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346907C>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.415C>T	11.37:g.48346907C>T							p.L139L	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	415	+			112			Helical; Name=3; (Potential).		B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.415C>T	CCDS31489.1																																																																																				0.488	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		31	139	0	0	0	0	31	139				
OR4C11	219429	broad.mit.edu	37	11	55371370	55371370	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55371370C>A	ENST00000302231.4	-	1	504	c.480G>T	c.(478-480)ctG>ctT	p.L160L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	160						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						ATCTTAAGGCCAGGATAATCT	0.448																																						uc010rii.1		NA																	0				ovary(1)	1						c.(478-480)CTG>CTT		olfactory receptor, family 4, subfamily C,							70.0	60.0	64.0					11																	55371370		2179	4009	6188	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371370C>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.480G>T	11.37:g.55371370C>A							p.L160L	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	480	-			160			Extracellular (Potential).		B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.480G>T	CCDS31503.1																																																																																				0.448	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		20	65	1	0	2.39e-15	5.02e-15	20	65				
OR4S2	219431	broad.mit.edu	37	11	55419152	55419152	+	Missense_Mutation	SNP	G	G	T	rs200328594		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55419152G>T	ENST00000312422.2	+	1	773	c.773G>T	c.(772-774)cGc>cTc	p.R258L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ATGTACATGCGCCCTGATACG	0.463																																						uc001nhs.1		NA																	0				skin(2)|ovary(1)	3						c.(772-774)CGC>CTC		olfactory receptor, family 4, subfamily S,							158.0	135.0	143.0					11																	55419152		2179	4027	6206	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419152G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.773G>T	11.37:g.55419152G>T	ENSP00000310337:p.Arg258Leu						p.R258L	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	773	+		all_epithelial(135;0.0748)	258			Extracellular (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.773G>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190471	0.78789	.	.	ENSG00000174982	ENST00000312422	T	0.36699	1.24	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000264	T	0.58680	0.2139	M	0.86343	2.81	0.34333	D	0.687956	D	0.58268	0.982	P	0.58721	0.844	T	0.75013	-0.3467	10	0.87932	D	0	.	11.1843	0.48646	0.0855:0.0:0.9145:0.0	.	258	Q8NH73	OR4S2_HUMAN	L	258	ENSP00000310337:R258L	ENSP00000310337:R258L	R	+	2	0	OR4S2	55175728	0.000000	0.05858	0.992000	0.48379	0.937000	0.57800	-0.055000	0.11807	2.508000	0.84585	0.542000	0.68232	CGC		0.463	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		29	157	1	0	5.62e-17	1.19e-16	29	157				
OR5D13	390142	broad.mit.edu	37	11	55541290	55541290	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55541290T>G	ENST00000361760.1	+	1	377	c.377T>G	c.(376-378)gTg>gGg	p.V126G		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GACCGTTTTGTGGCAGTTTGT	0.448																																						uc010ril.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(376-378)GTG>GGG		olfactory receptor, family 5, subfamily D,							240.0	233.0	235.0					11																	55541290		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541290T>G	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.377T>G	11.37:g.55541290T>G	ENSP00000354800:p.Val126Gly						p.V126G	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	377	+		all_epithelial(135;0.196)	126			Cytoplasmic (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.377T>G	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452432	0.43531	.	.	ENSG00000198877	ENST00000361760	T	0.00402	7.56	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31051	U	0.008348	T	0.01592	0.0051	H	0.94658	3.565	0.48901	D	0.999724	D	0.71674	0.998	D	0.71414	0.973	T	0.39663	-0.9603	10	0.87932	D	0	-14.6231	10.9515	0.47332	0.0:0.0:0.0:1.0	.	126	Q8NGL4	OR5DD_HUMAN	G	126	ENSP00000354800:V126G	ENSP00000354800:V126G	V	+	2	0	OR5D13	55297866	0.986000	0.35501	0.742000	0.31022	0.010000	0.07245	5.572000	0.67411	1.535000	0.49220	0.398000	0.26397	GTG		0.448	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		37	182	0	0	0	0	37	182				
OR10AG1	282770	broad.mit.edu	37	11	55735663	55735663	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55735663A>T	ENST00000312345.2	-	1	327	c.277T>A	c.(277-279)Tgt>Agt	p.C93S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAAAAAACACATTTGTGTA	0.403																																						uc010rit.1		NA																	0				skin(2)	2						c.(277-279)TGT>AGT		olfactory receptor, family 10, subfamily AG,							83.0	86.0	85.0					11																	55735663		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735663A>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.277T>A	11.37:g.55735663A>T	ENSP00000311477:p.Cys93Ser						p.C93S	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	277	-	Esophageal squamous(21;0.0137)		93			Helical; Name=3; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.277T>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	A	9.713	1.157547	0.21454	.	.	ENSG00000174970	ENST00000312345	T	0.01313	5.02	5.47	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.649607	0.14506	N	0.315456	T	0.01592	0.0051	L	0.41124	1.26	0.09310	N	1	B	0.23316	0.083	B	0.20955	0.032	T	0.43572	-0.9383	10	0.37606	T	0.19	.	6.5932	0.22658	0.6898:0.1582:0.0:0.152	.	93	Q8NH19	O10AG_HUMAN	S	93	ENSP00000311477:C93S	ENSP00000311477:C93S	C	-	1	0	OR10AG1	55492239	0.010000	0.17322	0.936000	0.37596	0.402000	0.30811	2.282000	0.43461	2.121000	0.65114	0.391000	0.25812	TGT		0.403	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		10	59	0	0	0	0	10	59				
OR8H2	390151	broad.mit.edu	37	11	55873233	55873233	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:55873233T>A	ENST00000313503.1	+	1	715	c.715T>A	c.(715-717)Tct>Act	p.S239T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GAAAGCTTTCTCTACTTGCGT	0.383										HNSCC(53;0.14)																												uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(715-717)TCT>ACT		olfactory receptor, family 8, subfamily H,							107.0	105.0	106.0					11																	55873233		2201	4295	6496	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873233T>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.715T>A	11.37:g.55873233T>A	ENSP00000323982:p.Ser239Thr	HNSCC(53;0.14)					p.S239T	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	715	+	Esophageal squamous(21;0.00693)		239			Helical; Name=6; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.715T>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	13.46	2.243238	0.39697	.	.	ENSG00000181767	ENST00000313503	T	0.00295	8.25	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.00580	0.0019	M	0.91249	3.19	0.24997	N	0.991499	P	0.44195	0.828	P	0.50934	0.654	T	0.06588	-1.0818	10	0.87932	D	0	.	12.9346	0.58307	0.0:0.0:0.0:1.0	.	239	Q8N162	OR8H2_HUMAN	T	239	ENSP00000323982:S239T	ENSP00000323982:S239T	S	+	1	0	OR8H2	55629809	0.000000	0.05858	0.118000	0.21660	0.484000	0.33280	0.854000	0.27791	1.590000	0.49995	0.362000	0.22060	TCT		0.383	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		19	65	0	0	0	0	19	65				
OR5T2	219464	broad.mit.edu	37	11	56000129	56000129	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56000129C>A	ENST00000313264.4	-	1	608	c.533G>T	c.(532-534)aGa>aTa	p.R178I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	178						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(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CATGTAGACTCTGGGTGACAT	0.443																																						uc010rjc.1		NA																	0				ovary(2)	2						c.(532-534)AGA>ATA		olfactory receptor, family 5, subfamily T,							202.0	172.0	182.0					11																	56000129		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000129C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.533G>T	11.37:g.56000129C>A	ENSP00000323688:p.Arg178Ile						p.R178I	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	533	-	Esophageal squamous(21;0.00448)		178			Cytoplasmic (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.533G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032735	0.35893	.	.	ENSG00000181718	ENST00000313264	T	0.00377	7.68	5.07	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.177849	0.26563	U	0.023662	T	0.00784	0.0026	M	0.85710	2.77	0.09310	N	1	P	0.48764	0.915	D	0.63381	0.914	T	0.37731	-0.9693	10	0.66056	D	0.02	.	6.4306	0.21794	0.0:0.6477:0.13:0.2223	.	178	Q8NGG2	OR5T2_HUMAN	I	178	ENSP00000323688:R178I	ENSP00000323688:R178I	R	-	2	0	OR5T2	55756705	0.000000	0.05858	0.189000	0.23252	0.234000	0.25298	-0.030000	0.12308	0.238000	0.21222	0.471000	0.43371	AGA		0.443	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		25	103	1	0	3.08e-08	5.93e-08	25	103				
OR5T3	390154	broad.mit.edu	37	11	56019731	56019731	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56019731T>A	ENST00000303059.3	+	1	56	c.56T>A	c.(55-57)aTg>aAg	p.M19K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAAACTGAAATGGACAAGTTG	0.368																																						uc010rjd.1		NA																	0					0						c.(55-57)ATG>AAG		olfactory receptor, family 5, subfamily T,							75.0	73.0	74.0					11																	56019731		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019731T>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.56T>A	11.37:g.56019731T>A	ENSP00000305403:p.Met19Lys						p.M19K	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	56	+	Esophageal squamous(21;0.00448)		19			Extracellular (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.56T>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841667	0.51057	.	.	ENSG00000172489	ENST00000303059	T	0.00003	9.84	4.49	4.49	0.54785	.	0.665346	0.12287	U	0.482281	T	0.00073	0.0002	N	0.08118	0	0.09310	N	0.999995	D	0.54397	0.966	P	0.47299	0.543	T	0.63695	-0.6579	10	0.72032	D	0.01	.	11.9738	0.53078	0.0:0.0:0.0:1.0	.	19	Q8NGG3	OR5T3_HUMAN	K	19	ENSP00000305403:M19K	ENSP00000305403:M19K	M	+	2	0	OR5T3	55776307	0.027000	0.19231	0.198000	0.23420	0.066000	0.16364	0.997000	0.29731	1.977000	0.57605	0.523000	0.50628	ATG		0.368	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		5	37	0	0	0	0	5	37				
OR5T3	390154	broad.mit.edu	37	11	56020312	56020312	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56020312C>T	ENST00000303059.3	+	1	637	c.637C>T	c.(637-639)Cct>Tct	p.P213S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGATATGCCTCCTCTCCTTGC	0.408																																						uc010rjd.1		NA																	0					0						c.(637-639)CCT>TCT		olfactory receptor, family 5, subfamily T,							265.0	245.0	252.0					11																	56020312		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020312C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.637C>T	11.37:g.56020312C>T	ENSP00000305403:p.Pro213Ser						p.P213S	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	637	+	Esophageal squamous(21;0.00448)		213			Extracellular (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.637C>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.364802	0.41902	.	.	ENSG00000172489	ENST00000303059	T	0.39592	1.07	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.145263	0.31747	N	0.007127	T	0.63757	0.2538	M	0.68952	2.095	0.23282	N	0.997982	D	0.58620	0.983	D	0.74023	0.982	T	0.58109	-0.7694	10	0.72032	D	0.01	.	18.0508	0.89347	0.0:1.0:0.0:0.0	.	213	Q8NGG3	OR5T3_HUMAN	S	213	ENSP00000305403:P213S	ENSP00000305403:P213S	P	+	1	0	OR5T3	55776888	0.000000	0.05858	0.218000	0.23776	0.326000	0.28443	-0.054000	0.11826	2.569000	0.86673	0.643000	0.83706	CCT		0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		6	219	0	0	0	0	6	219				
OR8K3	219473	broad.mit.edu	37	11	56086553	56086553	+	Missense_Mutation	SNP	G	G	T	rs150576458	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:56086553G>T	ENST00000312711.1	+	1	771	c.771G>T	c.(769-771)atG>atT	p.M257I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	257						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(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGCTTTTCATGTACGTGCAGC	0.448																																						uc010rjf.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(769-771)ATG>ATT		olfactory receptor, family 8, subfamily K,							116.0	103.0	107.0					11																	56086553		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086553G>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.771G>T	11.37:g.56086553G>T	ENSP00000323555:p.Met257Ile						p.M257I	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	771	+	Esophageal squamous(21;0.00448)		257			Helical; Name=6; (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.771G>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197921	0.22037	.	.	ENSG00000181689	ENST00000312711	T	0.00145	8.67	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.078950	0.53938	N	0.000045	T	0.00144	0.0004	L	0.39633	1.23	0.26989	N	0.965178	B	0.19817	0.039	B	0.30782	0.12	T	0.27262	-1.0079	10	0.56958	D	0.05	.	7.7927	0.29129	0.0:0.1891:0.642:0.1689	.	257	Q8NH51	OR8K3_HUMAN	I	257	ENSP00000323555:M257I	ENSP00000323555:M257I	M	+	3	0	OR8K3	55843129	0.759000	0.28416	1.000000	0.80357	0.682000	0.39822	1.120000	0.31271	2.367000	0.80283	0.471000	0.43371	ATG		0.448	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		9	57	1	0	5.49e-09	1.07e-08	9	57				
TNKS1BP1	85456	broad.mit.edu	37	11	57077033	57077033	+	Missense_Mutation	SNP	C	C	A	rs141886247	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57077033C>A	ENST00000532437.1	-	5	3463	c.3152G>T	c.(3151-3153)aGt>aTt	p.S1051I	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1051I			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1051	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTAGCATCACTGTTTTGCCA	0.637																																						uc001njr.2		NA																	0				skin(1)	1						c.(3151-3153)AGT>ATT		tankyrase 1-binding protein 1							95.0	88.0	90.0					11																	57077033		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077033C>A	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3152G>T	11.37:g.57077033C>A	ENSP00000437271:p.Ser1051Ile					TNKS1BP1_uc001njs.2_Missense_Mutation_p.S1051I|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.S502I	p.S1051I	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	3464	-		all_epithelial(135;0.21)	1051			Gly-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3152G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720438	0.30503	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.33216	1.42;1.42	5.05	4.12	0.48240	.	0.529682	0.17197	N	0.183290	T	0.33731	0.0873	L	0.29908	0.895	0.09310	N	1	D	0.54207	0.965	P	0.56700	0.804	T	0.06588	-1.0818	10	0.54805	T	0.06	-4.1407	8.3993	0.32576	0.0:0.8242:0.0:0.1758	.	1051	Q9C0C2	TB182_HUMAN	I	1051	ENSP00000350990:S1051I;ENSP00000437271:S1051I	ENSP00000350990:S1051I	S	-	2	0	TNKS1BP1	56833609	0.000000	0.05858	0.004000	0.12327	0.189000	0.23516	0.455000	0.21843	2.356000	0.79943	0.462000	0.41574	AGT		0.637	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		24	56	1	0	9.86e-18	2.09e-17	24	56				
OR9Q1	219956	broad.mit.edu	37	11	57947762	57947762	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57947762C>A	ENST00000335397.3	+	3	1162	c.846C>A	c.(844-846)ccC>ccA	p.P282P		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	282						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(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AGGTCATCCCCATGTTGAATC	0.458																																						uc001nmj.2		NA																	0				ovary(1)	1						c.(844-846)CCC>CCA		olfactory receptor, family 9, subfamily Q,							93.0	85.0	88.0					11																	57947762		2201	4296	6497	SO:0001819	synonymous_variant	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947762C>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.846C>A	11.37:g.57947762C>A							p.P282P	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	1162	+		Breast(21;0.222)	282			Helical; Name=7; (Potential).		Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	c.846C>A	CCDS31543.1																																																																																				0.458	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		27	61	1	0	1.25e-16	2.63e-16	27	61				
OR10Q1	219960	broad.mit.edu	37	11	57996165	57996165	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:57996165G>C	ENST00000316770.2	-	1	225	c.183C>G	c.(181-183)acC>acG	p.T61T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	61						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)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AATACATCGGGGTGCGGAGGG	0.527																																						uc010rkd.1		NA																	0				ovary(2)	2						c.(181-183)ACC>ACG		olfactory receptor, family 10, subfamily Q,							101.0	104.0	103.0					11																	57996165		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57996165G>C	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.183C>G	11.37:g.57996165G>C							p.T61T	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	183	-		Breast(21;0.0589)	61			Helical; Name=2; (Potential).		Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.183C>G	CCDS31547.1																																																																																				0.527	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		9	73	0	0	0	0	9	73				
OR5A2	219981	broad.mit.edu	37	11	59190214	59190214	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:59190214G>T	ENST00000302040.4	-	1	235	c.213C>A	c.(211-213)gaC>gaA	p.D71E		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	71						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)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CATAGCAGATGTCCAGGAAGG	0.493																																						uc010rkt.1		NA																	0					0						c.(211-213)GAC>GAA		olfactory receptor, family 5, subfamily A,							136.0	118.0	124.0					11																	59190214		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190214G>T	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.213C>A	11.37:g.59190214G>T	ENSP00000303834:p.Asp71Glu						p.D71E	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	213	-			71			Helical; Name=2; (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.213C>A	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808725	0.90707	.	.	ENSG00000172324	ENST00000302040	T	0.01152	5.26	5.47	-6.77	0.01727	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	U	0.002663	T	0.03739	0.0106	L	0.56396	1.775	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.00031	-1.2279	10	0.87932	D	0	.	15.3934	0.74767	0.4894:0.0:0.5106:0.0	.	71	Q8NGI9	OR5A2_HUMAN	E	71	ENSP00000303834:D71E	ENSP00000303834:D71E	D	-	3	2	OR5A2	58946790	0.000000	0.05858	0.000000	0.03702	0.875000	0.50365	-1.838000	0.01687	-1.303000	0.02332	0.585000	0.79938	GAC		0.493	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		21	70	1	0	1.28e-07	2.44e-07	21	70				
MS4A14	84689	broad.mit.edu	37	11	60170499	60170499	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:60170499G>C	ENST00000300187.6	+	4	710	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	MS4A14_ENST00000531787.1_Missense_Mutation_p.E33Q|MS4A14_ENST00000531783.1_Missense_Mutation_p.E145Q|MS4A14_ENST00000395001.1_Missense_Mutation_p.E33Q|MS4A14_ENST00000395005.2_Missense_Mutation_p.E128Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	145						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCCATCCTTTGAAGAAATATG	0.388																																						uc001npj.2		NA																	0				breast(1)	1						c.(433-435)GAA>CAA		membrane-spanning 4-domains, subfamily A, member							239.0	215.0	223.0					11																	60170499		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60170499G>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.433G>C	11.37:g.60170499G>C	ENSP00000300187:p.Glu145Gln					MS4A14_uc001npi.2_Missense_Mutation_p.E33Q|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.E128Q|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.E145Q	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	998	+			145			Helical; (Potential).		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.433G>C	CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.80|14.80	2.642136|2.642136	0.47153|0.47153	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783;ENST00000395001|ENST00000534688	T;T;T;T;T;T|.	0.30714|.	4.18;4.18;4.18;1.52;4.28;4.18|.	4.77|4.77	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.55103|0.55103	1.725|1.725	0.09310|0.09310	N|N	1|1	D;D|.	0.63880|.	0.991;0.993|.	P;D|.	0.64776|.	0.883;0.929|.	T|T	0.28554|0.28554	-1.0040|-1.0040	9|5	0.66056|.	D|.	0.02|.	-2.7674|-2.7674	5.9827|5.9827	0.19415|0.19415	0.3145:0.0:0.6855:0.0|0.3145:0.0:0.6855:0.0	.|.	128;145|.	Q96JA4-2;Q96JA4|.	.;M4A14_HUMAN|.	Q|F	33;145;128;128;145;33|103	ENSP00000437222:E33Q;ENSP00000300187:E145Q;ENSP00000378453:E128Q;ENSP00000435764:E128Q;ENSP00000433761:E145Q;ENSP00000378449:E33Q|.	ENSP00000300187:E145Q|.	E|L	+|+	1|3	0|2	MS4A14|MS4A14	59927075|59927075	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	0.684000|0.684000	0.25364|0.25364	0.719000|0.719000	0.32188|0.32188	0.650000|0.650000	0.86243|0.86243	GAA|TTG		0.388	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			5	119	0	0	0	0	5	119				
AHNAK	79026	broad.mit.edu	37	11	62293302	62293302	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:62293302C>T	ENST00000378024.4	-	5	8861	c.8587G>A	c.(8587-8589)Gat>Aat	p.D2863N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2863					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)				CCTTTCAGATCTCCCTCTACC	0.453																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8587-8589)GAT>AAT		AHNAK nucleoprotein isoform 1							156.0	159.0	158.0					11																	62293302		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293302C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8587G>A	11.37:g.62293302C>T	ENSP00000367263:p.Asp2863Asn					AHNAK_uc001ntk.1_Intron	p.D2863N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8887	-		Melanoma(852;0.155)	2863					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8587G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	22.3	4.275685	0.80580	.	.	ENSG00000124942	ENST00000378024	T	0.02236	4.38	3.3	3.3	0.37823	.	.	.	.	.	T	0.10937	0.0267	M	0.85710	2.77	0.30508	N	0.769732	D	0.65815	0.995	D	0.63033	0.91	T	0.05037	-1.0910	9	0.21014	T	0.42	-0.9056	12.7338	0.57212	0.0:1.0:0.0:0.0	.	2863	Q09666	AHNK_HUMAN	N	2863	ENSP00000367263:D2863N	ENSP00000367263:D2863N	D	-	1	0	AHNAK	62049878	0.984000	0.35163	0.011000	0.14972	0.969000	0.65631	3.719000	0.54926	1.534000	0.49203	0.394000	0.25966	GAT		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		16	165	0	0	0	0	16	165				
INTS5	80789	broad.mit.edu	37	11	62415040	62415040	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:62415040G>C	ENST00000330574.2	-	2	2564	c.2512C>G	c.(2512-2514)Cgg>Ggg	p.R838G	GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	838					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACGGTGGCCCGGGCGTGTTCC	0.657																																						uc001nud.2		NA																	0				ovary(2)	2						c.(2512-2514)CGG>GGG		integrator complex subunit 5							46.0	52.0	50.0					11																	62415040		2201	4298	6499	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415040G>C	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2512C>G	11.37:g.62415040G>C	ENSP00000327889:p.Arg838Gly					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.R838G	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2565	-			838					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.2512C>G	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733320	0.30684	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.43	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	L	0.43152	1.355	0.38329	D	0.943747	P	0.38455	0.632	B	0.35510	0.204	T	0.55483	-0.8134	9	0.72032	D	0.01	.	13.2961	0.60298	0.0:0.0:0.8406:0.1594	.	838	Q6P9B9	INT5_HUMAN	G	838	.	ENSP00000327889:R838G	R	-	1	2	INTS5	62171616	0.944000	0.32072	0.929000	0.37066	0.241000	0.25554	1.973000	0.40550	1.501000	0.48654	0.650000	0.86243	CGG		0.657	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		3	103	0	0	0	0	3	103				
SNX32	254122	broad.mit.edu	37	11	65617935	65617935	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:65617935G>A	ENST00000308342.6	+	5	833	c.408G>A	c.(406-408)gcG>gcA	p.A136A		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	136	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGACAGTTGCGATGCACGAAG	0.592																																						uc001ofr.2		NA																	0					0						c.(406-408)GCG>GCA		sorting nexin 6B							71.0	65.0	67.0					11																	65617935		2201	4297	6498	SO:0001819	synonymous_variant	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65617935G>A	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.408G>A	11.37:g.65617935G>A						SNX32_uc010rop.1_3'UTR	p.A136A	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	5	535	+			136			PX.		Q8IW53|Q96NG4	Silent	SNP	ENST00000308342.6	37	c.408G>A	CCDS8113.2																																																																																				0.592	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		6	57	0	0	0	0	6	57				
CATSPER1	117144	broad.mit.edu	37	11	65793167	65793167	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:65793167C>A	ENST00000312106.5	-	1	821	c.684G>T	c.(682-684)agG>agT	p.R228S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	228	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GATGACGGGACCTGCCATGGT	0.592																																						uc001ogt.2		NA																	0				ovary(2)	2						c.(682-684)AGG>AGT		sperm-associated cation channel 1							86.0	76.0	79.0					11																	65793167		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793167C>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.684G>T	11.37:g.65793167C>A	ENSP00000309052:p.Arg228Ser						p.R228S	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	822	-			228			His-rich.|Cytoplasmic (Potential).		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.684G>T	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256996	0.22965	.	.	ENSG00000175294	ENST00000312106	D	0.97430	-4.38	4.04	0.957	0.19613	.	3.186890	0.01519	N	0.018297	D	0.93916	0.8053	L	0.40543	1.245	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	D	0.83505	0.0077	10	0.32370	T	0.25	-0.209	4.0719	0.09885	0.1537:0.5772:0.1734:0.0957	.	228	Q8NEC5	CTSR1_HUMAN	S	228	ENSP00000309052:R228S	ENSP00000309052:R228S	R	-	3	2	CATSPER1	65549743	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.058000	0.14301	0.078000	0.16900	-0.373000	0.07131	AGG		0.592	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		13	33	1	0	3.27e-08	6.29e-08	13	33				
TCIRG1	10312	broad.mit.edu	37	11	67812468	67812468	+	Missense_Mutation	SNP	G	G	T	rs148627120		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:67812468G>T	ENST00000265686.3	+	10	1172	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L	TCIRG1_ENST00000532635.1_Missense_Mutation_p.R139L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	355					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ATCCCCTGCCGGGACATGCCC	0.682																																						uc001one.2		NA																	0				ovary(1)	1						c.(1063-1065)CGG>CTG		T-cell, immune regulator 1 isoform a							97.0	85.0	89.0					11																	67812468		2200	4294	6494	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67812468G>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1064G>T	11.37:g.67812468G>T	ENSP00000265686:p.Arg355Leu					TCIRG1_uc001ong.2_Missense_Mutation_p.R139L|TCIRG1_uc001onh.2_Missense_Mutation_p.R57L|TCIRG1_uc001oni.2_5'UTR	p.R355L	NM_006019	NP_006010	Q13488	VPP3_HUMAN			10	1172	+			355			Cytoplasmic (Potential).		O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1064G>T	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208940	0.39003	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86030	-2.06;-2.06	4.31	1.63	0.23807	.	0.502079	0.20799	N	0.085466	T	0.72676	0.3490	L	0.27975	0.815	0.09310	N	1	B	0.09022	0.002	B	0.16289	0.015	T	0.60250	-0.7300	10	0.45353	T	0.12	-20.5748	6.098	0.20031	0.4206:0.0:0.5794:0.0	.	355	Q13488	VPP3_HUMAN	L	355;139	ENSP00000265686:R355L;ENSP00000434407:R139L	ENSP00000265686:R355L	R	+	2	0	TCIRG1	67569044	0.000000	0.05858	0.924000	0.36721	0.917000	0.54804	0.258000	0.18387	0.150000	0.19136	0.462000	0.41574	CGG		0.682	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		10	46	1	0	1.59e-06	2.96e-06	10	46				
MYEOV	26579	broad.mit.edu	37	11	69063361	69063361	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:69063361G>T	ENST00000308946.3	+	3	894	c.444G>T	c.(442-444)ggG>ggT	p.G148G	MYEOV_ENST00000535407.1_Silent_p.G90G|MYEOV_ENST00000441339.2_Silent_p.G148G	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	148										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTGGCACTGGGAACAGGAATT	0.622																																						uc001oov.2		NA																	0					0						c.(442-444)GGG>GGT		myeloma overexpressed							221.0	213.0	216.0					11																	69063361		2200	4294	6494	SO:0001819	synonymous_variant	26579							g.chr11:69063361G>T	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.444G>T	11.37:g.69063361G>T						MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Silent_p.G148G|MYEOV_uc001oow.2_Silent_p.G90G	p.G148G	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	894	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		148					Q9UGN6|Q9UGN7	Silent	SNP	ENST00000308946.3	37	c.444G>T	CCDS8190.1																																																																																				0.622	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			16	330	1	0	4.76e-15	9.97e-15	16	330				
USP35	57558	broad.mit.edu	37	11	77909074	77909074	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:77909074G>T	ENST00000529308.1	+	3	1027	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_5'Flank|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	256					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAGCAATGATGACAGTGTGAC	0.597																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(766-768)GAC>TAC		ubiquitin specific protease 35							102.0	107.0	105.0					11																	77909074		2174	4267	6441	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77909074G>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.766G>T	11.37:g.77909074G>T	ENSP00000431876:p.Asp256Tyr					USP35_uc001oze.2_Missense_Mutation_p.D12Y|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_5'Flank	p.D256Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		3	1012	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		256						Missense_Mutation	SNP	ENST00000529308.1	37	c.766G>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738563	0.15574	.	.	ENSG00000118369	ENST00000528910;ENST00000529308	T;T	0.69561	-0.41;-0.34	4.71	4.71	0.59529	Armadillo-like helical (1);	0.000000	0.52532	D	0.000066	T	0.71178	0.3309	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	P	0.56916	0.809	T	0.74150	-0.3758	10	0.56958	D	0.05	-42.2337	17.8705	0.88810	0.0:0.0:1.0:0.0	.	256	Q9P2H5	UBP35_HUMAN	Y	12;256	ENSP00000436001:D12Y;ENSP00000431876:D256Y	ENSP00000436001:D12Y	D	+	1	0	USP35	77586722	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	4.675000	0.61619	2.448000	0.82819	0.561000	0.74099	GAC		0.597	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		7	116	1	0	0.000274275	0.000473562	7	116				
TENM4	26011	broad.mit.edu	37	11	78413272	78413272	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:78413272G>T	ENST00000278550.7	-	28	4848	c.4386C>A	c.(4384-4386)gcC>gcA	p.A1462A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1462					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTGCGTGGATGGCCACCTTGC	0.552																																						uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(4384-4386)GCC>GCA		odz, odd Oz/ten-m homolog 4							64.0	63.0	63.0					11																	78413272		2069	4204	6273	SO:0001819	synonymous_variant	26011				signal transduction	integral to membrane		g.chr11:78413272G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4386C>A	11.37:g.78413272G>T						ODZ4_uc009yvb.1_Silent_p.A46A	p.A1462A	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	4849	-			1462			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.4386C>A	CCDS44688.1																																																																																				0.552	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			11	32	1	0	2.81e-09	5.49e-09	11	32				
CREBZF	58487	broad.mit.edu	37	11	85375815	85375815	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:85375815C>G	ENST00000527447.1	-	1	331	c.105G>C	c.(103-105)ctG>ctC	p.L35L	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_5'Flank	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	35					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				CAGCCCGGGTCAGGTCAGAGG	0.692																																					NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2		NA																	0				ovary(1)	1						c.(103-105)CTG>CTC		HCF-binding transcription factor Zhangfei							13.0	17.0	16.0					11																	85375815		1751	3958	5709	SO:0001819	synonymous_variant	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375815C>G	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.105G>C	11.37:g.85375815C>G						CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	p.L35L	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			1	368	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	35					B2R8Q9|Q0P5U9|Q52LT3	Silent	SNP	ENST00000527447.1	37	c.105G>C	CCDS41697.1																																																																																				0.692	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		4	38	0	0	0	0	4	38				
CTSC	1075	broad.mit.edu	37	11	88027277	88027277	+	Missense_Mutation	SNP	C	C	A	rs199547244		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:88027277C>A	ENST00000227266.5	-	7	1403	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	430					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAGCCGGTGCCCCAGCTGTT	0.507																																						uc001pck.3		NA																	0					0						c.(1288-1290)GGC>GTC		cathepsin C isoform a preproprotein		C	VAL/GLY	1,4401	2.1+/-5.4	0,1,2200	95.0	84.0	88.0		1289	6.0	1.0	11		88	0,8598		0,0,4299	yes	missense	CTSC	NM_001814.4	109	0,1,6499	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	430/464	88027277	1,12999	2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88027277C>A	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.1289G>T	11.37:g.88027277C>A	ENSP00000227266:p.Gly430Val					CTSC_uc001pcl.3_Missense_Mutation_p.G282V	p.G430V	NM_001814	NP_001805	P53634	CATC_HUMAN			7	1390	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	430					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.1289G>T	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590539	0.86851	2.27E-4	0.0	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.93366	-3.21	5.97	5.97	0.96955	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.98604	1.0660	9	.	.	.	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	413;430	B4DJQ8;P53634	.;CATC_HUMAN	V	413;430	ENSP00000227266:G430V	.	G	-	2	0	CTSC	87666925	1.000000	0.71417	0.997000	0.53966	0.700000	0.40528	7.786000	0.85741	2.837000	0.97791	0.655000	0.94253	GGC		0.507	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		10	63	1	0	3.07e-06	5.66e-06	10	63				
TYR	7299	broad.mit.edu	37	11	88911881	88911881	+	Missense_Mutation	SNP	G	G	C	rs199500520		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:88911881G>C	ENST00000263321.5	+	1	1262	c.760G>C	c.(760-762)Ggt>Cgt	p.G254R	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	254					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G254S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GTACATGGGAGGTCAGCACCC	0.458																																						uc001pcs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(760-762)GGT>CGT		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						121.0	102.0	108.0					11																	88911881		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911881G>C	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.760G>C	11.37:g.88911881G>C	ENSP00000263321:p.Gly254Arg						p.G254R	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	842	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	254			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.760G>C	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053687	0.75960	.	.	ENSG00000077498	ENST00000263321	D	0.98862	-5.19	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.296128	0.41938	D	0.000793	D	0.99396	0.9787	M	0.92219	3.285	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	D	0.98883	1.0770	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	254	P14679	TYRO_HUMAN	R	254	ENSP00000263321:G254R	.	G	+	1	0	TYR	88551529	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	6.179000	0.71974	2.885000	0.99019	0.655000	0.94253	GGT		0.458	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		19	51	0	0	0	0	19	51				
FAT3	120114	broad.mit.edu	37	11	92523337	92523337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:92523337G>T	ENST00000298047.6	+	7	4581	c.4564G>T	c.(4564-4566)Gag>Tag	p.E1522*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.E1372*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E1522*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1522	Cadherin 14. {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)				CTATACTGCCGAGAGGCTGGA	0.498										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4564-4566)GAG>TAG		FAT tumor suppressor homolog 3							153.0	148.0	149.0					11																	92523337		2023	4193	6216	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523337G>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.4564G>T	11.37:g.92523337G>T	ENSP00000298047:p.Glu1522*	TCGA Ovarian(4;0.039)					p.E1522*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			7	4581	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1522			Cadherin 14.|Extracellular (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.4564G>T		.	.	.	.	.	.	.	.	.	.	G	42	9.408091	0.99163	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1522;1522;1372	.	ENSP00000298047:E1522X	E	+	1	0	FAT3	92162985	1.000000	0.71417	0.901000	0.35422	0.140000	0.21249	5.116000	0.64661	2.941000	0.99782	0.655000	0.94253	GAG		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		53	142	1	0	9.86e-34	2.13e-33	53	142				
CCDC67	159989	broad.mit.edu	37	11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T	rs374648091		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	46					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTGGAGACACGATTAGATCT	0.388																																						uc001pdq.2		NA																	0				ovary(1)	1						c.(136-138)CGA>TGA		coiled-coil domain containing 67							105.0	107.0	106.0					11																	93088643		1879	4099	5978	SO:0001587	stop_gained	159989							g.chr11:93088643C>T	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.136C>T	11.37:g.93088643C>T	ENSP00000298050:p.Arg46*					CCDC67_uc001pdo.1_Nonsense_Mutation_p.R46*|CCDC67_uc001pdp.2_Nonsense_Mutation_p.R46*	p.R46*	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			3	236	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	46			Potential.		Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.136C>T	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645274	0.87859	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	.	.	.	5.54	1.18	0.20946	.	0.445552	0.20432	N	0.092454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.1073	0.14790	0.4125:0.4189:0.0919:0.0768	.	.	.	.	X	46	.	ENSP00000298050:R46X	R	+	1	2	CCDC67	92728291	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	1.260000	0.32968	0.656000	0.30886	0.491000	0.48974	CGA		0.388	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		16	48	0	0	0	0	16	48				
HSPA8	3312	broad.mit.edu	37	11	122931384	122931384	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:122931384C>G	ENST00000532636.1	-	3	447	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	HSPA8_ENST00000453788.2_Missense_Mutation_p.E110Q|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.E110Q|HSPA8_ENST00000526862.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.E110Q|HSPA8_ENST00000534624.1_Missense_Mutation_p.E110Q|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_5'Flank|HSPA8_ENST00000533540.1_Intron			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	110					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTTTGGTCTCTCCCTTGTAT	0.453																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NA																	0				central_nervous_system(7)|lung(1)	8						c.(328-330)GAG>CAG		heat shock 70kDa protein 8 isoform 1							90.0	88.0	89.0					11																	122931384		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931384C>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.328G>C	11.37:g.122931384C>G	ENSP00000437125:p.Glu110Gln					HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Missense_Mutation_p.E110Q|HSPA8_uc010rzu.1_Intron|HSPA8_uc009zbd.1_Missense_Mutation_p.E110Q|HSPA8_uc010rzv.1_Missense_Mutation_p.E110Q	p.E110Q	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	3	406	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	110					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.328G>C	CCDS8440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.061726|4.061726	0.76187|0.76187	.|.	.|.	ENSG00000109971|ENSG00000109971	ENST00000525463|ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000526110;ENST00000528292;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182;ENST00000524590;ENST00000530391	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.01152	.|5.26;5.26;5.26;5.26;5.26;5.26;5.26;5.26;5.26;5.26;5.26;5.26	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.07324	.|0.0185	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	.|P;D;D;P	.|0.56287	.|0.836;0.975;0.968;0.904	.|P;D;P;P	.|0.65140	.|0.656;0.932;0.889;0.614	.|T	.|0.03034	.|-1.1080	.|10	.|0.87932	.|D	.|0	.|-31.8873	17.8912|17.8912	0.88872|0.88872	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|110;110;110;110	.|B4DTX2;E7ET08;P11142-2;P11142	.|.;.;.;HSP7C_HUMAN	.|Q	-1|110;110;110;110;110;50;110;110;110;110;110;110	.|ENSP00000437125:E110Q;ENSP00000432083:E110Q;ENSP00000404372:E110Q;ENSP00000227378:E110Q;ENSP00000433584:E110Q;ENSP00000432884:E50Q;ENSP00000435154:E110Q;ENSP00000431641:E110Q;ENSP00000436183:E110Q;ENSP00000434415:E110Q;ENSP00000434565:E110Q;ENSP00000434851:E110Q	.|ENSP00000227378:E110Q	.|E	-|-	.|1	.|0	HSPA8|HSPA8	122436594|122436594	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.957000|0.957000	0.61999|0.61999	6.065000|6.065000	0.71176|0.71176	2.274000|2.274000	0.75844|0.75844	0.491000|0.491000	0.48974|0.48974	.|GAG		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			8	78	0	0	0	0	8	78				
OR8A1	390275	broad.mit.edu	37	11	124440565	124440565	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr11:124440565A>T	ENST00000284287.3	+	1	673	c.601A>T	c.(601-603)Atg>Ttg	p.M201L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	201					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCTCCCTCTCATGAAGCTGTC	0.448																																						uc010san.1		NA																	0				ovary(1)	1						c.(601-603)ATG>TTG		olfactory receptor, family 8, subfamily A,							148.0	136.0	140.0					11																	124440565		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440565A>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.601A>T	11.37:g.124440565A>T	ENSP00000284287:p.Met201Leu						p.M201L	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	601	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	201			Extracellular (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.601A>T	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	A	1.520	-0.547211	0.04024	.	.	ENSG00000196119	ENST00000284287	T	0.00010	9.41	5.03	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.134339	0.35262	N	0.003329	T	0.00012	0.0000	N	0.00033	-2.575	0.26528	N	0.974318	B	0.02656	0.0	B	0.06405	0.002	T	0.47302	-0.9128	10	0.02654	T	1	.	5.3673	0.16121	0.4166:0.3464:0.0:0.237	.	201	Q8NGG7	OR8A1_HUMAN	L	201	ENSP00000284287:M201L	ENSP00000284287:M201L	M	+	1	0	OR8A1	123945775	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.270000	0.08584	2.098000	0.63641	0.528000	0.53228	ATG		0.448	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		22	76	0	0	0	0	22	76				
WNK1	65125	broad.mit.edu	37	12	994586	994586	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:994586G>C	ENST00000315939.6	+	19	5259	c.4616G>C	c.(4615-4617)gGa>gCa	p.G1539A	WNK1_ENST00000537687.1_Missense_Mutation_p.G1799A|WNK1_ENST00000535572.1_Missense_Mutation_p.G1292A|WNK1_ENST00000530271.2_Missense_Mutation_p.G2037A|WNK1_ENST00000340908.4_Missense_Mutation_p.G1132A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1539					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTACAACTGGATTGGCTTTC	0.473																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4615-4617)GGA>GCA		WNK lysine deficient protein kinase 1							427.0	376.0	393.0					12																	994586		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994586G>C	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4616G>C	12.37:g.994586G>C	ENSP00000313059:p.Gly1539Ala					WNK1_uc001qip.3_Missense_Mutation_p.G1292A|WNK1_uc001qir.3_Missense_Mutation_p.G712A	p.G1539A	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5123	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1539					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.4616G>C	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986869	0.35036	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.3	4.39	0.52855	.	0.088297	0.49305	N	0.000148	T	0.63402	0.2508	L	0.59436	1.845	0.41984	D	0.990815	B;B;B	0.30709	0.197;0.291;0.113	B;B;B	0.25614	0.062;0.05;0.023	T	0.66826	-0.5825	10	0.87932	D	0	-5.7149	16.147	0.81578	0.0:0.1338:0.8662:0.0	.	1292;1292;1539	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	A	1292;1539;1799;712;2037;1132	ENSP00000441972:G1292A;ENSP00000313059:G1539A;ENSP00000444465:G1799A;ENSP00000433548:G2037A;ENSP00000341292:G1132A	ENSP00000252477:G712A	G	+	2	0	WNK1	864847	1.000000	0.71417	0.544000	0.28141	0.588000	0.36517	3.818000	0.55678	1.320000	0.45209	0.655000	0.94253	GGA		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		90	375	0	0	0	0	90	375				
CACNA1C	775	broad.mit.edu	37	12	2602389	2602389	+	Missense_Mutation	SNP	C	C	T	rs533892755		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:2602389C>T	ENST00000347598.4	+	7	950	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CACNA1C_ENST00000399638.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A317V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A317V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A317V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	317					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)	TCCCCTTGTGCGCTGGAAACG	0.592																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(949-951)GCG>GTG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						67.0	69.0	68.0					12																	2602389		2118	4252	6370	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.chr12:2602389C>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.950C>T	12.37:g.2602389C>T	ENSP00000266376:p.Ala317Val					CACNA1C_uc009zdv.1_Missense_Mutation_p.A314V|CACNA1C_uc001qkb.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkc.2_Missense_Mutation_p.A317V|CACNA1C_uc001qke.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkf.2_Missense_Mutation_p.A317V|CACNA1C_uc001qjz.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A317V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A317V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkn.2_Missense_Mutation_p.A317V|CACNA1C_uc001qko.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkp.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkr.2_Missense_Mutation_p.A317V|CACNA1C_uc001qku.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkq.2_Missense_Mutation_p.A317V|CACNA1C_uc001qks.2_Missense_Mutation_p.A317V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A317V|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.A53V|CACNA1C_uc001qkj.1_Missense_Mutation_p.A53V|CACNA1C_uc001qkk.1_Missense_Mutation_p.A53V|CACNA1C_uc001qkm.1_Missense_Mutation_p.A53V	p.A317V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	7	1263	+			317			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.950C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731671	0.89390	.	.	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	0.96396	-3.92;-3.94;-3.94;-3.93;-3.93;-3.93;-3.96;-3.84;-3.88;-3.93;-3.86;-3.85;-3.93;-3.99;-3.85;-3.77;-4.0;-3.95;-3.94;-3.97;-3.87;-3.96;-3.99	5.06	5.06	0.68205	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	L	0.60845	1.875	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0;0.995;0.988;1.0;1.0;0.988;1.0;1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D	0.87578	0.992;0.994;0.93;0.994;0.997;0.987;0.997;0.95;0.701;0.997;0.987;0.823;0.997;0.996;0.998;0.987;0.859;0.997;0.884;0.987;0.997;0.997;0.987;0.987	D	0.98070	1.0398	10	0.62326	D	0.03	.	18.6169	0.91305	0.0:1.0:0.0:0.0	.	317;314;317;317;317;317;317;317;317;317;317;288;317;317;317;317;317;317;317;317;317;317;317;317	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;158	ENSP00000336982:A317V;ENSP00000382563:A317V;ENSP00000437936:A317V;ENSP00000382552:A317V;ENSP00000382547:A317V;ENSP00000382506:A317V;ENSP00000382530:A317V;ENSP00000382546:A317V;ENSP00000382500:A317V;ENSP00000382549:A317V;ENSP00000266376:A317V;ENSP00000382515:A317V;ENSP00000382510:A317V;ENSP00000341092:A317V;ENSP00000382537:A317V;ENSP00000329877:A317V;ENSP00000382557:A317V;ENSP00000385724:A317V;ENSP00000382512:A317V;ENSP00000382542:A317V;ENSP00000382526:A317V;ENSP00000385896:A317V;ENSP00000382504:A317V	ENSP00000323129:A158V	A	+	2	0	CACNA1C	2472650	1.000000	0.71417	0.965000	0.40720	0.549000	0.35272	7.420000	0.80191	2.633000	0.89246	0.455000	0.32223	GCG		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		19	75	0	0	0	0	19	75				
KCNA5	3741	broad.mit.edu	37	12	5154004	5154004	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:5154004G>A	ENST00000252321.3	+	1	920	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	231					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCCCCGCAACGAGTTCCAGCG	0.602																																						uc001qni.2		NA																	0				ovary(2)|breast(2)	4						c.(691-693)GAG>AAG		potassium voltage-gated channel, shaker-related							74.0	83.0	80.0					12																	5154004		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154004G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.691G>A	12.37:g.5154004G>A	ENSP00000252321:p.Glu231Lys						p.E231K	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	920	+			231					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.691G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077142	0.36662	.	.	ENSG00000130037	ENST00000252321	T	0.66460	-0.21	4.77	1.8	0.24995	.	11.159900	0.00812	U	0.001505	T	0.67050	0.2852	L	0.49513	1.565	0.53688	D	0.999975	B	0.16166	0.016	B	0.10450	0.005	T	0.40001	-0.9586	10	0.44086	T	0.13	.	14.8219	0.70080	0.0:0.4088:0.5912:0.0	.	231	P22460	KCNA5_HUMAN	K	231	ENSP00000252321:E231K	ENSP00000252321:E231K	E	+	1	0	KCNA5	5024265	1.000000	0.71417	0.587000	0.28692	0.996000	0.88848	6.484000	0.73621	0.185000	0.20105	0.561000	0.74099	GAG		0.602	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		17	101	0	0	0	0	17	101				
GPR162	27239	broad.mit.edu	37	12	6939088	6939088	+	IGR	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:6939088G>C	ENST00000311268.3	+	0	2768				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CCATGCACCTGCAGATGCGGG	0.602																																						uc001qra.1		NA																	0					0						c.(562-564)CTG>CTC		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						85.0	91.0	89.0					12																	6939088		2018	4179	6197	SO:0001628	intergenic_variant	10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6939088G>C	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538			12.37:g.6939088G>C						LEPREL2_uc001qqz.1_5'UTR|LEPREL2_uc001qrb.1_5'UTR|GPR162_uc001qqy.1_Silent_p.L123L	p.L188L	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			4	598	+			188					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.564G>C	CCDS8563.1																																																																																				0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		28	95	0	0	0	0	28	95				
GPR162	27239	broad.mit.edu	37	12	6939090	6939090	+	IGR	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:6939090A>T	ENST00000311268.3	+	0	2768				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ATGCACCTGCAGATGCGGGAG	0.602																																						uc001qra.1		NA																	0					0						c.(565-567)CAG>CTG		leprecan-like 2 precursor	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						85.0	90.0	89.0					12																	6939090		2016	4181	6197	SO:0001628	intergenic_variant	10536				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr12:6939090A>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538			12.37:g.6939090A>T						LEPREL2_uc001qqz.1_5'UTR|LEPREL2_uc001qrb.1_5'UTR|GPR162_uc001qqy.1_Missense_Mutation_p.Q124L	p.Q189L	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN			4	600	+			189					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.566A>T	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	A	34	5.302403	0.95601	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.37235	1.21;1.21	4.85	4.85	0.62838	Tetratricopeptide-like helical (1);	0.052854	0.85682	D	0.000000	T	0.60715	0.2290	.	.	.	0.50313	D	0.999861	D;D	0.63880	0.993;0.99	D;P	0.72338	0.977;0.719	T	0.66590	-0.5885	9	0.87932	D	0	-15.8467	14.5956	0.68403	1.0:0.0:0.0:0.0	.	189;212	Q8IVL6;Q13513	P3H3_HUMAN;.	L	188;4	ENSP00000379951:Q188L;ENSP00000290510:Q4L	ENSP00000290510:Q4L	Q	+	2	0	LEPREL2	6809351	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	8.450000	0.90340	2.034000	0.60081	0.402000	0.26972	CAG		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		25	91	0	0	0	0	25	91				
ATN1	1822	broad.mit.edu	37	12	7047658	7047658	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:7047658G>C	ENST00000356654.4	+	7	2769	c.2532G>C	c.(2530-2532)gaG>gaC	p.E844D	ATN1_ENST00000396684.2_Missense_Mutation_p.E844D	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	844					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGCTCAGGAGGGCCGTGCTC	0.587											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrw.1		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(2530-2532)GAG>GAC		atrophin-1							32.0	33.0	33.0					12																	7047658		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047658G>C	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2532G>C	12.37:g.7047658G>C	ENSP00000349076:p.Glu844Asp		OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	ATN1_uc001qrx.1_Missense_Mutation_p.E844D	p.E844D	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			7	2769	+			844					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2532G>C	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643336	0.67244	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.68765	-0.35;-0.35;-0.35	4.95	4.95	0.65309	.	0.232833	0.21731	N	0.069974	T	0.58380	0.2118	N	0.17082	0.46	0.33419	D	0.579608	P	0.42337	0.776	P	0.49887	0.625	T	0.64364	-0.6425	10	0.30078	T	0.28	.	11.4294	0.50032	0.0827:0.0:0.9173:0.0	.	844	P54259	ATN1_HUMAN	D	844;844;844;429	ENSP00000349076:E844D;ENSP00000379915:E844D;ENSP00000441744:E844D	ENSP00000229279:E429D	E	+	3	2	ATN1	6917919	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.185000	0.32065	2.762000	0.94881	0.644000	0.83932	GAG		0.587	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		5	31	0	0	0	0	5	31				
C1S	716	broad.mit.edu	37	12	7177304	7177304	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:7177304G>T	ENST00000406697.1	+	15	2044	c.1416G>T	c.(1414-1416)acG>acT	p.T472T	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Silent_p.T472T|C1S_ENST00000328916.3_Silent_p.T472T|C1S_ENST00000402681.3_Silent_p.T305T			P09871	C1S_HUMAN	complement component 1, s subcomponent	472	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGTGCTGACGGCTGCTCATG	0.517																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2		NA																	0				skin(1)	1						c.(1414-1416)ACG>ACT		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						50.0	47.0	48.0					12																	7177304		2203	4300	6503	SO:0001819	synonymous_variant	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177304G>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1416G>T	12.37:g.7177304G>T						C1S_uc001qsk.2_Silent_p.T472T|C1S_uc001qsl.2_Silent_p.T472T|C1S_uc009zfr.2_Silent_p.T305T|C1S_uc009zfs.2_RNA	p.T472T	NM_201442	NP_958850	P09871	C1S_HUMAN			15	2135	+			472			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	c.1416G>T	CCDS31735.1																																																																																				0.517	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		8	35	1	0	0.000157383	0.000274117	8	35				
C3AR1	719	broad.mit.edu	37	12	8211440	8211440	+	Nonsense_Mutation	SNP	G	G	A	rs374256772		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:8211440G>A	ENST00000307637.4	-	2	1545	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	448					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGAATGGACTGCCTTGCTTTC	0.458																																						uc001qtv.1		NA																	0				ovary(1)	1						c.(1342-1344)CAG>TAG		complement component 3a receptor 1							98.0	92.0	94.0					12																	8211440		2203	4300	6503	SO:0001587	stop_gained	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211440G>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1342C>T	12.37:g.8211440G>A	ENSP00000302079:p.Gln448*						p.Q448*	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1434	-			448			Cytoplasmic (Potential).		O43771|Q92868	Nonsense_Mutation	SNP	ENST00000307637.4	37	c.1342C>T	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	38	6.747504	0.97809	.	.	ENSG00000171860	ENST00000307637	.	.	.	5.26	5.26	0.73747	.	0.227351	0.30483	N	0.009533	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	11.3134	0.49377	0.0:0.0:0.8188:0.1812	.	.	.	.	X	448	.	ENSP00000302079:Q448X	Q	-	1	0	C3AR1	8102707	1.000000	0.71417	0.966000	0.40874	0.942000	0.58702	4.702000	0.61817	2.746000	0.94184	0.655000	0.94253	CAG		0.458	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			17	80	0	0	0	0	17	80				
SMCO3	440087	broad.mit.edu	37	12	14959575	14959575	+	Silent	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:14959575T>G	ENST00000316048.2	-	2	112	c.40A>C	c.(40-42)Agg>Cgg	p.R14R	C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	14						integral component of membrane (GO:0016021)											TCTTCCCGCCTTTTTGGGTTC	0.378																																						uc001rck.1		NA																	0					0						c.(40-42)AGG>CGG		hypothetical protein LOC440087							82.0	81.0	81.0					12																	14959575		1832	4101	5933	SO:0001819	synonymous_variant	440087					integral to membrane		g.chr12:14959575T>G		CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.40A>C	12.37:g.14959575T>G						C12orf60_uc001rcj.3_Intron	p.R14R	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN			2	113	-			14					Q8NAI5	Silent	SNP	ENST00000316048.2	37	c.40A>C	CCDS41759.1																																																																																				0.378	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698		4	139	0	0	0	0	4	139				
ABCC9	10060	broad.mit.edu	37	12	21970162	21970162	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:21970162C>A	ENST00000261201.4	-	31	3850	c.3851G>T	c.(3850-3852)aGt>aTt	p.S1284I	ABCC9_ENST00000345162.2_Missense_Mutation_p.S1248I|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1284I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1284					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGTCAGGAAACTGTTCACCTT	0.368																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(3850-3852)AGT>ATT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						147.0	153.0	151.0					12																	21970162		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970162C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3851G>T	12.37:g.21970162C>A	ENSP00000261201:p.Ser1284Ile					ABCC9_uc001rfh.2_Missense_Mutation_p.S1284I|ABCC9_uc001rfj.1_Missense_Mutation_p.S1248I	p.S1284I	NM_005691	NP_005682	O60706	ABCC9_HUMAN			31	3871	-			1284			Cytoplasmic (Potential).		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3851G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186391	0.57909	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	4.52	4.52	0.55395	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	L	0.54323	1.7	0.58432	D	0.999991	P;D	0.57257	0.57;0.979	B;P	0.53313	0.096;0.723	D	0.93515	0.6856	10	0.30854	T	0.27	-20.164	17.7929	0.88561	0.0:1.0:0.0:0.0	.	1284;1284	O60706;O60706-2	ABCC9_HUMAN;.	I	1284;911;1284;1248	ENSP00000261200:S1284I;ENSP00000440521:S911I;ENSP00000261201:S1284I;ENSP00000261202:S1248I	ENSP00000261200:S1284I	S	-	2	0	ABCC9	21861429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.525000	0.85131	0.650000	0.86243	AGT		0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		16	108	1	0	5.39e-06	9.86e-06	16	108				
ABCC9	10060	broad.mit.edu	37	12	21970227	21970227	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:21970227C>A	ENST00000261201.4	-	31	3785	c.3786G>T	c.(3784-3786)ttG>ttT	p.L1262F	ABCC9_ENST00000345162.2_Missense_Mutation_p.L1226F|ABCC9_ENST00000261200.4_Missense_Mutation_p.L1262F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1262	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CAACCCAATTCAAATAATTGG	0.383																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(3784-3786)TTG>TTT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						96.0	96.0	96.0					12																	21970227		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970227C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3786G>T	12.37:g.21970227C>A	ENSP00000261201:p.Leu1262Phe					ABCC9_uc001rfh.2_Missense_Mutation_p.L1262F|ABCC9_uc001rfj.1_Missense_Mutation_p.L1226F	p.L1262F	NM_005691	NP_005682	O60706	ABCC9_HUMAN			31	3806	-			1262			Helical; Name=15; (Potential).|ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3786G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006334	0.74932	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	4.52	3.61	0.41365	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.96352	0.8810	M	0.75150	2.29	0.54753	D	0.999983	D;D	0.62365	0.971;0.991	P;P	0.55824	0.718;0.785	D	0.96004	0.8996	10	0.54805	T	0.06	-12.6938	13.3468	0.60578	0.0:0.9218:0.0:0.0782	.	1262;1262	O60706;O60706-2	ABCC9_HUMAN;.	F	1262;889;1262;1226	ENSP00000261200:L1262F;ENSP00000440521:L889F;ENSP00000261201:L1262F;ENSP00000261202:L1226F	ENSP00000261200:L1262F	L	-	3	2	ABCC9	21861494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.766000	0.55280	1.237000	0.43756	0.650000	0.86243	TTG		0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		11	65	1	0	3.86e-05	6.86e-05	11	65				
PPFIBP1	8496	broad.mit.edu	37	12	27788028	27788028	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:27788028G>C	ENST00000318304.8	+	4	533	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	PPFIBP1_ENST00000545334.1_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E84Q|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.E84Q	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	84					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AACGCTTGTTGAATGGCTTCA	0.408																																						uc001ric.1		NA																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(250-252)GAA>CAA		PTPRF interacting protein binding protein 1							78.0	83.0	82.0					12																	27788028		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27788028G>C	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.250G>C	12.37:g.27788028G>C	ENSP00000314724:p.Glu84Gln					PPFIBP1_uc001rhy.1_Missense_Mutation_p.E84Q|PPFIBP1_uc001rhz.1_Missense_Mutation_p.E84Q|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Missense_Mutation_p.E84Q|PPFIBP1_uc001ria.2_Missense_Mutation_p.E84Q|PPFIBP1_uc001rid.1_Intron	p.E84Q	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			4	627	+	Lung SC(9;0.0873)		84					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.250G>C	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970172	0.92855	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000545334;ENST00000318304;ENST00000535047;ENST00000542629;ENST00000228425;ENST00000535575;ENST00000542187	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.53	4.53	0.55603	.	0.000000	0.32608	U	0.005874	T	0.30070	0.0753	M	0.66939	2.045	0.42351	D	0.992376	P;P;P;D;D	0.57571	0.742;0.821;0.832;0.98;0.967	P;P;P;P;P	0.55303	0.501;0.514;0.697;0.773;0.747	T	0.06127	-1.0844	10	0.56958	D	0.05	-10.5976	17.1107	0.86674	0.0:0.0:1.0:0.0	.	84;84;84;84;84	Q86W92;Q86W92-2;Q86W92-4;Q86W92-5;F5H0E0	LIPB1_HUMAN;.;.;.;.	Q	84;84;84;84;84;84;84;84;97	ENSP00000445822:E84Q;ENSP00000314724:E84Q;ENSP00000444046:E84Q;ENSP00000443442:E84Q;ENSP00000228425:E84Q	ENSP00000228425:E84Q	E	+	1	0	PPFIBP1	27679295	1.000000	0.71417	0.162000	0.22713	0.417000	0.31264	9.555000	0.98123	2.349000	0.79799	0.306000	0.20318	GAA		0.408	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		17	59	0	0	0	0	17	59				
BICD1	636	broad.mit.edu	37	12	32260340	32260340	+	Silent	SNP	G	G	C	rs376173106		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:32260340G>C	ENST00000281474.5	+	1	178	c.75G>C	c.(73-75)acG>acC	p.T25T	BICD1_ENST00000551848.1_Silent_p.T25T|BICD1_ENST00000551086.1_Silent_p.T25T|BICD1_ENST00000548411.1_Silent_p.T25T|BICD1_ENST00000550207.1_Silent_p.T25T|RP11-843B15.2_ENST00000551974.1_RNA	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	25					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGGAGCTCACGGAGACCACCC	0.572																																						uc001rku.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(73-75)ACG>ACC		bicaudal D homolog 1 isoform 1							75.0	68.0	71.0					12																	32260340		2203	4300	6503	SO:0001819	synonymous_variant	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32260340G>C	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.75G>C	12.37:g.32260340G>C						BICD1_uc001rkv.2_Silent_p.T25T|BICD1_uc010skd.1_RNA	p.T25T	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		1	156	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		25			Potential.		A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	c.75G>C	CCDS8726.1																																																																																				0.572	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		6	15	0	0	0	0	6	15				
FGD4	121512	broad.mit.edu	37	12	32793299	32793299	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:32793299G>T	ENST00000427716.2	+	17	2557	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	FGD4_ENST00000531134.1_Silent_p.L796L|FGD4_ENST00000546442.1_Silent_p.L618L|FGD4_ENST00000525053.1_Silent_p.L823L|FGD4_ENST00000534526.2_Silent_p.L848L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	711	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTTTCAAACTGACCCAGTCTA	0.517																																						uc001rkz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2131-2133)CTG>CTT		FYVE, RhoGEF and PH domain containing 4							132.0	116.0	121.0					12																	32793299		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32793299G>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2133G>T	12.37:g.32793299G>T						FGD4_uc001rlc.2_Silent_p.L796L|FGD4_uc001rla.2_Silent_p.L367L|FGD4_uc010ske.1_Silent_p.L823L|FGD4_uc001rlb.1_RNA	p.L711L	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			17	2610	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		711			PH 2.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.2133G>T	CCDS8727.1																																																																																				0.517	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		19	95	1	0	5.35e-07	1.01e-06	19	95				
LRRK2	120892	broad.mit.edu	37	12	40697896	40697896	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:40697896G>C	ENST00000298910.7	+	27	3795	c.3737G>C	c.(3736-3738)aGa>aCa	p.R1246T	LRRK2_ENST00000343742.2_Missense_Mutation_p.R1246T	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1246					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTATGGTCTAGAGTAGAGAAA	0.343																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(3736-3738)AGA>ACA		leucine-rich repeat kinase 2							87.0	88.0	88.0					12																	40697896		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40697896G>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3737G>C	12.37:g.40697896G>C	ENSP00000298910:p.Arg1246Thr					LRRK2_uc001rmh.1_Missense_Mutation_p.R868T|LRRK2_uc009zjw.2_Missense_Mutation_p.R84T|LRRK2_uc001rmi.2_Missense_Mutation_p.R79T	p.R1246T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			27	3858	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1246			LRR 11.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3737G>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733691	0.89482	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.24723	2.22;1.84	5.48	5.48	0.80851	.	0.053065	0.64402	D	0.000001	T	0.45856	0.1363	L	0.42245	1.32	0.53688	D	0.999971	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.989;0.994;0.98	T	0.23368	-1.0190	10	0.52906	T	0.07	.	19.3301	0.94283	0.0:0.0:1.0:0.0	.	1246;1246;1246	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	T	1246	ENSP00000341930:R1246T;ENSP00000298910:R1246T	ENSP00000298910:R1246T	R	+	2	0	LRRK2	38984163	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.175000	0.94831	2.736000	0.93811	0.557000	0.71058	AGA		0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	42	0	0	0	0	4	42				
CNTN1	1272	broad.mit.edu	37	12	41327310	41327310	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:41327310G>A	ENST00000551295.2	+	8	868	c.751G>A	c.(751-753)Gta>Ata	p.V251I	CNTN1_ENST00000347616.1_Missense_Mutation_p.V251I|CNTN1_ENST00000547849.1_Missense_Mutation_p.V251I|CNTN1_ENST00000547702.1_Missense_Mutation_p.V251I|CNTN1_ENST00000360099.3_Missense_Mutation_p.V251I|CNTN1_ENST00000348761.2_Missense_Mutation_p.V240I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	251	Ig-like C2-type 3.				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)				GTTCAAGGATGTATATGCATT	0.299																																						uc001rmm.1		NA																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(751-753)GTA>ATA		contactin 1 isoform 1 precursor							149.0	150.0	150.0					12																	41327310		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41327310G>A	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.751G>A	12.37:g.41327310G>A	ENSP00000447006:p.Val251Ile					CNTN1_uc009zjy.1_Missense_Mutation_p.V251I|CNTN1_uc001rmn.1_Missense_Mutation_p.V240I|CNTN1_uc001rmo.2_Missense_Mutation_p.V251I	p.V251I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			8	864	+	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)	251			Ig-like C2-type 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.751G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070625	0.20147	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.27	-3.88	0.04205	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.327078	0.35013	N	0.003511	T	0.45597	0.1350	N	0.25485	0.75	0.22511	N	0.999039	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23084	-1.0198	10	0.26408	T	0.33	.	11.3976	0.49851	0.596:0.0:0.404:0.0	.	251;240;251	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	I	251;251;251;251;251;240	ENSP00000448004:V251I;ENSP00000447006:V251I;ENSP00000448653:V251I;ENSP00000325660:V251I;ENSP00000353213:V251I;ENSP00000261160:V240I	ENSP00000325660:V251I	V	+	1	0	CNTN1	39613577	0.993000	0.37304	0.630000	0.29268	0.944000	0.59088	1.531000	0.36018	-0.794000	0.04468	-0.300000	0.09419	GTA		0.299	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		25	73	0	0	0	0	25	73				
ADAMTS20	80070	broad.mit.edu	37	12	43862412	43862412	+	Missense_Mutation	SNP	A	A	G	rs368458299		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:43862412A>G	ENST00000389420.3	-	8	1213	c.1214T>C	c.(1213-1215)cTt>cCt	p.L405P	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L405P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	405	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		CGTGTGCCCAAGCTCATGGGC	0.363																																						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.(1213-1215)CTT>CCT		a disintegrin-like and metalloprotease with							115.0	120.0	119.0					12																	43862412		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43862412A>G	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.1214T>C	12.37:g.43862412A>G	ENSP00000374071:p.Leu405Pro						p.L405P	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	8	1214	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	405			Peptidase M12B.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1214T>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059423	0.76074	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.76578	-1.03;-1.03	5.2	5.2	0.72013	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.47455	D	0.000227	D	0.90933	0.7150	H	0.94222	3.51	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	D	0.93367	0.6732	10	0.72032	D	0.01	.	15.7835	0.78281	1.0:0.0:0.0:0.0	.	405	P59510	ATS20_HUMAN	P	405	ENSP00000374071:L405P;ENSP00000448341:L405P	ENSP00000374068:L405P	L	-	2	0	ADAMTS20	42148679	1.000000	0.71417	0.968000	0.41197	0.940000	0.58332	8.592000	0.90828	2.271000	0.75665	0.533000	0.62120	CTT		0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		15	38	0	0	0	0	15	38				
KMT2D	8085	broad.mit.edu	37	12	49434307	49434307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:49434307G>A	ENST00000301067.7	-	31	7245	c.7246C>T	c.(7246-7248)Cag>Tag	p.Q2416*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2416	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACTGGGACTGAGGACTGGCA	0.647																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(7246-7248)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							25.0	30.0	29.0					12																	49434307		2112	4225	6337	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434307G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7246C>T	12.37:g.49434307G>A	ENSP00000301067:p.Gln2416*	HNSCC(34;0.089)					p.Q2416*	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	7246	-			2416			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7246C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	47	13.807490	0.99764	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2416	.	ENSP00000301067:Q2416X	Q	-	1	0	MLL2	47720574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.387000	0.73191	2.596000	0.87737	0.591000	0.81541	CAG		0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	33	0	0	0	0	5	33				
POU6F1	5463	broad.mit.edu	37	12	51584173	51584173	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:51584173T>A	ENST00000389243.4	-	11	1702	c.763A>T	c.(763-765)Aag>Tag	p.K255*	POU6F1_ENST00000333640.10_Nonsense_Mutation_p.K255*|POU6F1_ENST00000550824.1_Nonsense_Mutation_p.K255*			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	255					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGTGGGTTCTTCTCAAAATAG	0.567																																						uc001rxy.2		NA																	0				ovary(1)	1						c.(763-765)AAG>TAG		POU class 6 homeobox 1							115.0	113.0	114.0					12																	51584173		2203	4300	6503	SO:0001587	stop_gained	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584173T>A	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.763A>T	12.37:g.51584173T>A	ENSP00000373895:p.Lys255*					POU6F1_uc001rxz.2_Nonsense_Mutation_p.K255*|POU6F1_uc001rya.2_Nonsense_Mutation_p.K255*	p.K255*	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			5	955	-			255			Homeobox.		Q15944|Q6DK47|Q7Z7P6	Nonsense_Mutation	SNP	ENST00000389243.4	37	c.763A>T	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	T	45	12.012808	0.99627	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4657	0.67482	0.0:0.0:0.0:1.0	.	.	.	.	X	255	.	ENSP00000330190:K255X	K	-	1	0	POU6F1	49870440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.104000	0.57790	2.065000	0.61736	0.459000	0.35465	AAG		0.567	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		24	115	0	0	0	0	24	115				
SCN8A	6334	broad.mit.edu	37	12	52200604	52200604	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:52200604C>G	ENST00000354534.6	+	27	5512	c.5334C>G	c.(5332-5334)gaC>gaG	p.D1778E	SCN8A_ENST00000545061.1_Missense_Mutation_p.D1737E|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1778					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)	AAAGTGCAGACCCTCTGAGTG	0.463																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(5332-5334)GAC>GAG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						145.0	153.0	151.0					12																	52200604		2200	4300	6500	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200604C>G	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.5334C>G	12.37:g.52200604C>G	ENSP00000346534:p.Asp1778Glu						p.D1778E	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5512	+			1778			IV.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5334C>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.244319	0.01481	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.95307	-3.67;-3.62	4.95	1.03	0.20045	.	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	N	0.05280	-0.08	0.54753	D	0.999981	B	0.20164	0.042	B	0.16722	0.016	T	0.71876	-0.4460	10	0.02654	T	1	.	9.758	0.40515	0.0:0.4977:0.0:0.5023	.	1778	Q9UQD0	SCN8A_HUMAN	E	1778;1737	ENSP00000346534:D1778E;ENSP00000440360:D1737E	ENSP00000346534:D1778E	D	+	3	2	SCN8A	50486871	0.000000	0.05858	0.999000	0.59377	0.999000	0.98932	-1.852000	0.01667	0.093000	0.17368	0.655000	0.94253	GAC		0.463	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		15	134	0	0	0	0	15	134				
KRT4	3851	broad.mit.edu	37	12	53202496	53202496	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:53202496C>G	ENST00000551956.1	-	5	1465	c.973G>C	c.(973-975)Gag>Cag	p.E325Q	KRT4_ENST00000458244.2_Missense_Mutation_p.E305Q|KRT4_ENST00000293774.4_Missense_Mutation_p.E399Q			P19013	K2C4_HUMAN	keratin 4	339	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTTCAGCCTCAGCCTTGCTC	0.572																																					Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	0				ovary(4)|skin(2)	6						c.(1195-1197)GAG>CAG		keratin 4							91.0	85.0	87.0					12																	53202496		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202496C>G		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.973G>C	12.37:g.53202496C>G	ENSP00000448220:p.Glu325Gln						p.E399Q	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			5	1466	-			325					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1195G>C	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	35	5.453158	0.96223	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.90563	-2.69;-1.44;-2.69	5.75	5.75	0.90469	Filament (1);	0.000000	0.48286	D	0.000181	D	0.96284	0.8788	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.96221	0.9160	10	0.87932	D	0	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	339	P19013	K2C4_HUMAN	Q	325;399;305	ENSP00000448220:E325Q;ENSP00000293774:E399Q;ENSP00000387904:E305Q	ENSP00000293774:E399Q	E	-	1	0	KRT4	51488763	1.000000	0.71417	0.963000	0.40424	0.907000	0.53573	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GAG		0.572	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		7	68	0	0	0	0	7	68				
HOXC11	3227	broad.mit.edu	37	12	54367536	54367536	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:54367536T>G	ENST00000546378.1	+	1	627	c.511T>G	c.(511-513)Tgc>Ggc	p.C171G	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.C171G			O43248	HXC11_HUMAN	homeobox C11	171					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						CGAGCCCCCCTGCTCCGGCAA	0.711			T	NUP98	AML																																	uc001sem.2		NA		Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				ovary(1)	1						c.(511-513)TGC>GGC		homeobox C11							14.0	18.0	17.0					12																	54367536		2169	4233	6402	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367536T>G		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.511T>G	12.37:g.54367536T>G	ENSP00000446680:p.Cys171Gly						p.C171G	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	627	+			171					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.511T>G	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037789	0.35989	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.41400	1.0;1.0	4.21	4.21	0.49690	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.091646	0.85682	D	0.000000	T	0.36991	0.0987	L	0.52011	1.625	0.54753	D	0.999988	B	0.09022	0.002	B	0.17433	0.018	T	0.17531	-1.0366	10	0.28530	T	0.3	.	12.7037	0.57049	0.0:0.0:0.0:1.0	.	171	O43248	HXC11_HUMAN	G	171	ENSP00000446680:C171G;ENSP00000243082:C171G	ENSP00000243082:C171G	C	+	1	0	HOXC11	52653803	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.589000	0.61006	1.895000	0.54865	0.454000	0.30748	TGC		0.711	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			6	38	0	0	0	0	6	38				
ITGA7	3679	broad.mit.edu	37	12	56094761	56094761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:56094761G>A	ENST00000555728.1	-	4	620	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	ITGA7_ENST00000553804.1_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000257879.6_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.Q101*|ITGA7_ENST00000257880.7_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000394230.2_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000394229.2_Nonsense_Mutation_p.Q198*|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.Q198*			Q13683	ITA7_HUMAN	integrin, alpha 7	198					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGCCCTGCTGGCAGAACCCA	0.592																																						uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(592-594)CAG>TAG		integrin alpha 7 isoform 1 precursor							113.0	102.0	106.0					12																	56094761		2203	4300	6503	SO:0001587	stop_gained	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56094761G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.592C>T	12.37:g.56094761G>A	ENSP00000452387:p.Gln198*					ITGA7_uc001shg.2_Nonsense_Mutation_p.Q198*|ITGA7_uc010sps.1_Nonsense_Mutation_p.Q101*|ITGA7_uc009znx.2_Nonsense_Mutation_p.Q85*	p.Q198*	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			4	812	-			198			FG-GAP 3.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Nonsense_Mutation	SNP	ENST00000555728.1	37	c.592C>T		.	.	.	.	.	.	.	.	.	.	G	26.1	4.701947	0.88924	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557257	.	.	.	4.34	4.34	0.51931	.	0.080464	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.8121	0.70003	0.0:0.0:1.0:0.0	.	.	.	.	X	198;198;198;101;198;198;198;198;198;40	.	ENSP00000257879:Q198X	Q	-	1	0	ITGA7	54381028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.595000	0.98260	2.436000	0.82500	0.456000	0.33151	CAG		0.592	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		4	34	0	0	0	0	4	34				
INHBC	3626	broad.mit.edu	37	12	57843393	57843393	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:57843393C>T	ENST00000309668.2	+	2	774	c.647C>T	c.(646-648)gCc>gTc	p.A216V		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	216					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGTGGAGCTGCCCATAGGCCT	0.622																																						uc001snv.1		NA																	0					0						c.(646-648)GCC>GTC		inhibin beta C chain preproprotein							51.0	52.0	51.0					12																	57843393		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843393C>T		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.647C>T	12.37:g.57843393C>T	ENSP00000308716:p.Ala216Val						p.A216V	NM_005538	NP_005529	P55103	INHBC_HUMAN			2	774	+			216					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.647C>T	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568012	0.86439	.	.	ENSG00000175189	ENST00000309668	T	0.80480	-1.38	3.89	3.89	0.44902	.	0.685183	0.13395	N	0.391078	T	0.76744	0.4030	L	0.44542	1.39	0.38163	D	0.939085	P	0.40000	0.698	B	0.40825	0.341	T	0.76906	-0.2786	9	.	.	.	-5.3219	15.8415	0.78848	0.0:1.0:0.0:0.0	.	216	P55103	INHBC_HUMAN	V	216	ENSP00000308716:A216V	.	A	+	2	0	INHBC	56129660	0.969000	0.33509	0.543000	0.28128	0.833000	0.47200	3.520000	0.53465	2.484000	0.83849	0.650000	0.86243	GCC		0.622	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		13	47	0	0	0	0	13	47				
DCTN2	10540	broad.mit.edu	37	12	57929539	57929539	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:57929539C>T	ENST00000548249.1	-	3	462	c.195G>A	c.(193-195)aaG>aaA	p.K65K	DCTN2_ENST00000551400.1_5'UTR|DCTN2_ENST00000543672.1_Silent_p.K70K|DCTN2_ENST00000434715.3_Silent_p.K70K|DCTN2_ENST00000537439.1_Silent_p.K42K	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	65					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CACCAAGTCCCTTTGTCCCCA	0.498																																						uc001som.1		NA																	0				ovary(1)	1						c.(193-195)AAG>AAA		dynactin 2							64.0	69.0	67.0					12																	57929539		1991	4157	6148	SO:0001819	synonymous_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57929539C>T	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.195G>A	12.37:g.57929539C>T						DCTN2_uc009zpu.1_Silent_p.K70K|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_5'UTR|DCTN2_uc001sop.1_5'UTR|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Silent_p.K65K	p.K65K	NM_006400	NP_006391	Q13561	DCTN2_HUMAN			3	327	-			65					B2RBK5|Q86YN2|Q9BW17	Silent	SNP	ENST00000548249.1	37	c.195G>A	CCDS58245.1																																																																																				0.498	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		4	23	0	0	0	0	4	23				
AVPR1A	552	broad.mit.edu	37	12	63543842	63543842	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:63543842C>A	ENST00000299178.2	-	1	880	c.775G>T	c.(775-777)Gca>Tca	p.A259S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	259					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCTTGCTCTGCACCCTTGCTC	0.612																																						uc001sro.1		NA																	0					0						c.(775-777)GCA>TCA		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						107.0	105.0	106.0					12																	63543842		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543842C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.775G>T	12.37:g.63543842C>A	ENSP00000299178:p.Ala259Ser						p.A259S	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2749	-			259			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.775G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.713646	0.00706	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.70164	-0.46;0.28	5.29	0.731	0.18277	GPCR, rhodopsin-like superfamily (1);	1.548680	0.04147	N	0.320661	T	0.36358	0.0964	N	0.02315	-0.6	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.19224	-1.0312	9	.	.	.	-0.7279	1.507	0.02488	0.2698:0.4116:0.1499:0.1686	.	259	P37288	V1AR_HUMAN	S	40;259	ENSP00000449822:A40S;ENSP00000299178:A259S	.	A	-	1	0	AVPR1A	61830109	0.000000	0.05858	0.007000	0.13788	0.459000	0.32528	0.103000	0.15292	0.123000	0.18342	0.455000	0.32223	GCA		0.612	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			23	96	1	0	1.97e-08	3.8e-08	23	96				
CPM	1368	broad.mit.edu	37	12	69265656	69265656	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:69265656C>G	ENST00000551568.1	-	4	399	c.339G>C	c.(337-339)ctG>ctC	p.L113L	CPM_ENST00000546373.1_Silent_p.L113L|CPM_ENST00000338356.3_Silent_p.L113L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	113					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TACTATTGATCAGATTTGTGA	0.443																																						uc001sup.2		NA																	0					0						c.(337-339)CTG>CTC		carboxypeptidase M precursor							175.0	157.0	163.0					12																	69265656		2203	4300	6503	SO:0001819	synonymous_variant	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69265656C>G	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.339G>C	12.37:g.69265656C>G						CPM_uc001sur.2_Silent_p.L113L|CPM_uc001suq.2_Silent_p.L113L	p.L113L	NM_198320	NP_938079	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		4	400	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		113					B2R800|Q9H2K9	Silent	SNP	ENST00000551568.1	37	c.339G>C	CCDS8987.1																																																																																				0.443	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		14	83	0	0	0	0	14	83				
BEST3	144453	broad.mit.edu	37	12	70049561	70049561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:70049561C>T	ENST00000330891.5	-	10	1359	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*	BEST3_ENST00000553096.1_Nonsense_Mutation_p.W272*|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Nonsense_Mutation_p.W165*	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	378					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATCCCACAGCCACTCCTCGTC	0.552																																						uc001svg.2		NA																	0					0						c.(1132-1134)TGG>TAG		vitelliform macular dystrophy 2-like 3 isoform							82.0	85.0	84.0					12																	70049561		2070	4211	6281	SO:0001587	stop_gained	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049561C>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1133G>A	12.37:g.70049561C>T	ENSP00000332413:p.Trp378*					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Nonsense_Mutation_p.W165*|BEST3_uc010stm.1_Nonsense_Mutation_p.W272*	p.W378*	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1360	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		378			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Nonsense_Mutation	SNP	ENST00000330891.5	37	c.1133G>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	36	5.937269	0.97122	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	.	.	.	5.63	5.63	0.86233	.	0.496510	0.21901	N	0.067441	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-10.2907	17.4439	0.87573	0.0:1.0:0.0:0.0	.	.	.	.	X	165;378;272	.	ENSP00000332413:W378X	W	-	2	0	BEST3	68335828	1.000000	0.71417	0.998000	0.56505	0.444000	0.32077	4.748000	0.62148	2.636000	0.89361	0.655000	0.94253	TGG		0.552	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		30	90	0	0	0	0	30	90				
PTPRB	5787	broad.mit.edu	37	12	70954649	70954649	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:70954649A>T	ENST00000261266.5	-	15	3609	c.3580T>A	c.(3580-3582)Tgg>Agg	p.W1194R	PTPRB_ENST00000550358.1_Missense_Mutation_p.W1324R|PTPRB_ENST00000538708.1_Missense_Mutation_p.W1104R|PTPRB_ENST00000451516.2_Missense_Mutation_p.W1104R|PTPRB_ENST00000334414.6_Missense_Mutation_p.W1412R|PTPRB_ENST00000550857.1_Missense_Mutation_p.W1104R|PTPRB_ENST00000551525.1_Missense_Mutation_p.W1411R	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1194	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCTGGACTCCAGTTGAACCAA	0.458																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(3580-3582)TGG>AGG		protein tyrosine phosphatase, receptor type, B							110.0	99.0	102.0					12																	70954649		1872	4107	5979	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954649A>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3580T>A	12.37:g.70954649A>T	ENSP00000261266:p.Trp1194Arg					PTPRB_uc010sto.1_Missense_Mutation_p.W1104R|PTPRB_uc010stp.1_Missense_Mutation_p.W1104R|PTPRB_uc001swc.3_Missense_Mutation_p.W1412R|PTPRB_uc001swa.3_Missense_Mutation_p.W1324R|PTPRB_uc001swd.3_Missense_Mutation_p.W1411R|PTPRB_uc009zrr.1_Missense_Mutation_p.W1291R	p.W1194R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		15	3610	-	Renal(347;0.236)		1194			Fibronectin type-III 14.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3580T>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	a	23.3	4.394185	0.83011	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83783	0.5329	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.967;1.0;1.0;0.999	D	0.87058	0.2151	10	0.87932	D	0	.	15.1139	0.72384	1.0:0.0:0.0:0.0	.	1104;1104;1291;1411;1412;1194;1324	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	R	1412;1104;1324;1104;1104;1194;1411;1291	ENSP00000334928:W1412R;ENSP00000393028:W1104R;ENSP00000448058:W1324R;ENSP00000438927:W1104R;ENSP00000447302:W1104R;ENSP00000261266:W1194R;ENSP00000448349:W1411R;ENSP00000446982:W1291R	ENSP00000261266:W1194R	W	-	1	0	PTPRB	69240916	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.894000	0.75655	1.960000	0.56953	0.456000	0.33151	TGG		0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			16	88	0	0	0	0	16	88				
KRR1	11103	broad.mit.edu	37	12	75895584	75895584	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:75895584C>T	ENST00000229214.4	-	9	945	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	GLIPR1_ENST00000266659.3_3'UTR|KRR1_ENST00000438169.2_Missense_Mutation_p.E251K	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	308	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTGATGGCTTCTGCTTGTTTA	0.303																																						uc001sxt.2		NA																	0				ovary(1)|pancreas(1)	2						c.(922-924)GAA>AAA		HIV-1 rev binding protein 2							115.0	109.0	111.0					12																	75895584		2203	4297	6500	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75895584C>T	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.922G>A	12.37:g.75895584C>T	ENSP00000229214:p.Glu308Lys					GLIPR1_uc001sxs.2_3'UTR|KRR1_uc009zsc.2_Missense_Mutation_p.E251K	p.E308K	NM_007043	NP_008974	Q13601	KRR1_HUMAN			9	963	-			308			Lys-rich.		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.922G>A	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624913	0.66901	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.49720	0.77;1.59	5.82	4.92	0.64577	.	0.047899	0.85682	D	0.000000	T	0.48572	0.1507	M	0.83012	2.62	0.58432	D	0.999998	P;B	0.40144	0.704;0.047	B;B	0.25405	0.058;0.06	T	0.59653	-0.7414	10	0.56958	D	0.05	0.1292	16.8895	0.86083	0.0:0.8717:0.1283:0.0	.	251;308	E7EUQ0;Q13601	.;KRR1_HUMAN	K	308;251	ENSP00000229214:E308K;ENSP00000411740:E251K	ENSP00000229214:E308K	E	-	1	0	KRR1	74181851	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.008000	0.63991	1.431000	0.47355	0.655000	0.94253	GAA		0.303	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		6	29	0	0	0	0	6	29				
NAV3	89795	broad.mit.edu	37	12	78562546	78562546	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:78562546T>A	ENST00000397909.2	+	24	5054	c.4881T>A	c.(4879-4881)ctT>ctA	p.L1627L	NAV3_ENST00000536525.2_Silent_p.L1627L|NAV3_ENST00000266692.7_Silent_p.L1450L|NAV3_ENST00000228327.6_Silent_p.L1627L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1627						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AATCTGAACTTATAGAACTAA	0.408										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4879-4881)CTT>CTA		neuron navigator 3							71.0	70.0	70.0					12																	78562546		1802	4082	5884	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562546T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4881T>A	12.37:g.78562546T>A		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.L1627L|NAV3_uc010sub.1_Silent_p.L1113L|NAV3_uc009zsf.2_Silent_p.L458L	p.L1627L	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			24	5054	+			1627			Potential.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.4881T>A		.	.	.	.	.	.	.	.	.	.	T	10.20	1.284265	0.23392	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.41	-1.5	0.08691	.	.	.	.	.	T	0.53094	0.1775	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45071	-0.9286	4	.	.	.	-11.7808	7.7565	0.28927	0.0:0.1995:0.4882:0.3123	.	.	.	.	N	522	.	.	Y	+	1	0	NAV3	77086677	0.944000	0.32072	0.986000	0.45419	0.991000	0.79684	-0.026000	0.12392	-0.410000	0.07542	0.528000	0.53228	TAT		0.408	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		24	93	0	0	0	0	24	93				
PPFIA2	8499	broad.mit.edu	37	12	81768487	81768487	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:81768487G>T	ENST00000549396.1	-	11	1352	c.1192C>A	c.(1192-1194)Cag>Aag	p.Q398K	PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q380K|PPFIA2_ENST00000550584.2_Missense_Mutation_p.Q398K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q245K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q398K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q380K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q299K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q324K|PPFIA2_ENST00000545296.2_Intron	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	398	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						CTCATGGTCTGCTGCAACTTT	0.458																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(1192-1194)CAG>AAG		PTPRF interacting protein alpha 2							146.0	134.0	138.0					12																	81768487		1928	4128	6056	SO:0001583	missense	8499							g.chr12:81768487G>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.1192C>A	12.37:g.81768487G>T	ENSP00000450337:p.Gln398Lys					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.Q398K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			11	1353	-			324					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1192C>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.434810|5.434810	0.96150|0.96150	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.36878|.	1.23;1.23;1.23;1.23;1.23;1.23;1.23|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86585|0.86585	0.5968|0.5968	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	P|.	0.40332|.	0.713|.	P|.	0.54815|.	0.761|.	D|D	0.88051|0.88051	0.2787|0.2787	10|5	0.72032|.	D|.	0.01|.	-15.5927|-15.5927	20.3312|20.3312	0.98718|0.98718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	398|.	O75334|.	LIPA2_HUMAN|.	K|R	398;380;324;409;380;398;299;398|236	ENSP00000450337:Q398K;ENSP00000450298:Q380K;ENSP00000385093:Q324K;ENSP00000327416:Q380K;ENSP00000449338:Q398K;ENSP00000388373:Q299K;ENSP00000447868:Q398K|.	ENSP00000327416:Q380K|.	Q|S	-|-	1|3	0|2	PPFIA2|PPFIA2	80292618|80292618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	9.805000|9.805000	0.99149|0.99149	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.458	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			24	58	1	0	2.22e-12	4.54e-12	24	58				
MGAT4C	25834	broad.mit.edu	37	12	86373115	86373115	+	Silent	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:86373115T>G	ENST00000604798.1	-	8	2593	c.1389A>C	c.(1387-1389)acA>acC	p.T463T	MGAT4C_ENST00000552808.2_Silent_p.T463T|MGAT4C_ENST00000393205.2_Silent_p.T492T|MGAT4C_ENST00000549405.2_Silent_p.T463T|MGAT4C_ENST00000548651.1_Silent_p.T463T|MGAT4C_ENST00000332156.1_Silent_p.T463T			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	463					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTCCTTTTGTGTTTTGGTGA	0.323																																						uc001tai.3		NA																	0				ovary(3)	3						c.(1387-1389)ACA>ACC		alpha-1,3-mannosyl-glycoprotein							82.0	83.0	83.0					12																	86373115		2203	4300	6503	SO:0001819	synonymous_variant	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86373115T>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1389A>C	12.37:g.86373115T>G						MGAT4C_uc001tal.3_Silent_p.T463T|MGAT4C_uc001taj.3_Silent_p.T463T|MGAT4C_uc001tak.3_Silent_p.T463T|MGAT4C_uc010sum.1_Silent_p.T487T|MGAT4C_uc001tah.3_Silent_p.T463T	p.T463T	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	2639	-			463			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Silent	SNP	ENST00000604798.1	37	c.1389A>C	CCDS9030.1																																																																																				0.323	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		6	28	0	0	0	0	6	28				
EEA1	8411	broad.mit.edu	37	12	93170693	93170693	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:93170693C>G	ENST00000322349.8	-	28	4304	c.4040G>C	c.(4039-4041)aGa>aCa	p.R1347T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1347					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GGCCCACTTTCTATTCAACGC	0.333																																						uc001tck.2		NA																	0				ovary(2)|skin(1)	3						c.(4039-4041)AGA>ACA		early endosome antigen 1, 162kD							217.0	209.0	212.0					12																	93170693		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93170693C>G	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.4040G>C	12.37:g.93170693C>G	ENSP00000317955:p.Arg1347Thr						p.R1347T	NM_003566	NP_003557	Q15075	EEA1_HUMAN			28	4305	-			1347			Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.4040G>C	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945952	0.92593	.	.	ENSG00000102189	ENST00000322349	T	0.78003	-1.14	5.48	5.48	0.80851	Zinc finger, FYVE-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000017	D	0.86957	0.6058	M	0.65975	2.015	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	D	0.85001	0.0900	10	0.34782	T	0.22	.	19.3478	0.94372	0.0:1.0:0.0:0.0	.	1347	Q15075	EEA1_HUMAN	T	1347	ENSP00000317955:R1347T	ENSP00000317955:R1347T	R	-	2	0	EEA1	91694824	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.786000	0.85741	2.560000	0.86352	0.650000	0.86243	AGA		0.333	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		8	109	0	0	0	0	8	109				
PLXNC1	10154	broad.mit.edu	37	12	94694716	94694716	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:94694716G>A	ENST00000258526.4	+	28	4518	c.4269G>A	c.(4267-4269)ctG>ctA	p.L1423L	PLXNC1_ENST00000547057.1_Silent_p.L470L|PLXNC1_ENST00000545312.1_Silent_p.L162L	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1423					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TAAACATCCTGAAGAACCCTC	0.423																																						uc001tdc.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4267-4269)CTG>CTA		plexin C1 precursor							121.0	109.0	113.0					12																	94694716		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94694716G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4269G>A	12.37:g.94694716G>A						PLXNC1_uc010sut.1_Silent_p.L470L|PLXNC1_uc009zsv.2_Silent_p.L162L	p.L1423L	NM_005761	NP_005752	O60486	PLXC1_HUMAN			28	4518	+			1423			Cytoplasmic (Potential).		Q59H25	Silent	SNP	ENST00000258526.4	37	c.4269G>A	CCDS9049.1																																																																																				0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			14	52	0	0	0	0	14	52				
IKBIP	121457	broad.mit.edu	37	12	99007959	99007959	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:99007959C>G	ENST00000342502.2	-	3	868	c.457G>C	c.(457-459)Gac>Cac	p.D153H	IKBIP_ENST00000420861.1_Missense_Mutation_p.D47H|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	153					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTTGTAATGTCTTGAGAAAGC	0.363																																						uc001tfv.2		NA																	0					0						c.(457-459)GAC>CAC		IKK interacting protein isoform 2							124.0	112.0	116.0					12																	99007959		2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007959C>G	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.457G>C	12.37:g.99007959C>G	ENSP00000343471:p.Asp153His					IKBIP_uc001tfw.2_3'UTR	p.D153H	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			3	567	-			153					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.457G>C	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816345	0.32145	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.45276	1.0;0.9	5.76	3.93	0.45458	.	.	.	.	.	T	0.40791	0.1131	N	0.22421	0.69	0.23036	N	0.998395	P	0.41569	0.755	P	0.50378	0.639	T	0.23261	-1.0193	9	0.49607	T	0.09	.	11.1701	0.48567	0.0:0.8011:0.0:0.1989	.	153	Q70UQ0	IKIP_HUMAN	H	153;47	ENSP00000343471:D153H;ENSP00000398023:D47H	ENSP00000343471:D153H	D	-	1	0	IKBIP	97532090	0.968000	0.33430	0.861000	0.33841	0.183000	0.23260	1.249000	0.32839	1.446000	0.47643	0.655000	0.94253	GAC		0.363	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		18	55	0	0	0	0	18	55				
GAS2L3	283431	broad.mit.edu	37	12	101017491	101017491	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:101017491G>T	ENST00000539410.1	+	9	1294	c.908G>T	c.(907-909)aGt>aTt	p.S303I	GAS2L3_ENST00000547754.1_Missense_Mutation_p.S303I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S303I|GAS2L3_ENST00000537247.1_Missense_Mutation_p.S199I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	303					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTAATGAAAGTGTACCTGAT	0.378																																						uc001thu.2		NA																	0				skin(1)	1						c.(907-909)AGT>ATT		growth arrest-specific 2 like 3							57.0	59.0	58.0					12																	101017491		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017491G>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.908G>T	12.37:g.101017491G>T	ENSP00000439672:p.Ser303Ile					GAS2L3_uc009zty.2_Missense_Mutation_p.S303I|GAS2L3_uc001thv.2_Missense_Mutation_p.S199I	p.S303I	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			10	1134	+			303					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.908G>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946018	0.53079	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.25085	1.83;1.83;1.82;1.83	5.71	1.74	0.24563	.	0.313721	0.39407	N	0.001379	T	0.30039	0.0752	M	0.63843	1.955	0.09310	N	1	P	0.48998	0.918	P	0.50896	0.653	T	0.08086	-1.0739	10	0.33940	T	0.23	-8.6441	5.9633	0.19310	0.3187:0.223:0.4583:0.0	.	303	Q86XJ1	GA2L3_HUMAN	I	303;303;199;303	ENSP00000266754:S303I;ENSP00000448955:S303I;ENSP00000442406:S199I;ENSP00000439672:S303I	ENSP00000266754:S303I	S	+	2	0	GAS2L3	99541622	0.922000	0.31269	0.232000	0.24009	0.963000	0.63663	1.709000	0.37909	0.326000	0.23384	0.655000	0.94253	AGT		0.378	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		7	45	1	0	2.01e-06	3.72e-06	7	45				
GAS2L3	283431	broad.mit.edu	37	12	101017768	101017768	+	Silent	SNP	G	G	C	rs61748062	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:101017768G>C	ENST00000539410.1	+	9	1571	c.1185G>C	c.(1183-1185)ccG>ccC	p.P395P	GAS2L3_ENST00000547754.1_Silent_p.P395P|GAS2L3_ENST00000266754.5_Silent_p.P395P|GAS2L3_ENST00000537247.1_Silent_p.P291P			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	395					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CGAAGAAACCGCAGGCTCCTT	0.418																																						uc001thu.2		NA																	0				skin(1)	1						c.(1183-1185)CCG>CCC		growth arrest-specific 2 like 3							86.0	89.0	88.0					12																	101017768		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101017768G>C	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1185G>C	12.37:g.101017768G>C						GAS2L3_uc009zty.2_Silent_p.P395P|GAS2L3_uc001thv.2_Silent_p.P291P	p.P395P	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			10	1411	+			395					B2RCN2	Silent	SNP	ENST00000539410.1	37	c.1185G>C	CCDS9079.1																																																																																				0.418	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		28	87	0	0	0	0	28	87				
C12orf42	374470	broad.mit.edu	37	12	103699898	103699898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:103699898C>T	ENST00000378113.2	-	5	710	c.485G>A	c.(484-486)tGg>tAg	p.W162*	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548048.1_Nonsense_Mutation_p.W95*|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Nonsense_Mutation_p.W162*	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	162										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TGAACTGTTCCAAGCCTGCTT	0.493																																						uc001tjt.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(484-486)TGG>TAG		hypothetical protein LOC374470							73.0	75.0	74.0					12																	103699898		1899	4119	6018	SO:0001587	stop_gained	374470							g.chr12:103699898C>T	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.485G>A	12.37:g.103699898C>T	ENSP00000367353:p.Trp162*					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Nonsense_Mutation_p.W162*|C12orf42_uc001tju.2_Nonsense_Mutation_p.W67*	p.W162*	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			5	573	-			162					Q49A64|Q4G0S2	Nonsense_Mutation	SNP	ENST00000378113.2	37	c.485G>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298372	0.60195	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	.	.	.	3.98	3.1	0.35709	.	0.000000	0.31010	N	0.008424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4067	7.5473	0.27775	0.0:0.8858:0.0:0.1142	.	.	.	.	X	162;95;162;162	.	ENSP00000367353:W162X	W	-	2	0	C12orf42	102224028	0.566000	0.26618	0.945000	0.38365	0.016000	0.09150	1.398000	0.34554	1.290000	0.44636	0.549000	0.68633	TGG		0.493	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		13	48	0	0	0	0	13	48				
STAB2	55576	broad.mit.edu	37	12	103988252	103988252	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:103988252C>T	ENST00000388887.2	+	3	499	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCTCCAACCTCGGTGTTGTCC	0.493																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(295-297)CGG>TGG		stabilin 2 precursor							157.0	140.0	146.0					12																	103988252		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:103988252C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.295C>T	12.37:g.103988252C>T	ENSP00000373539:p.Arg99Trp						p.R99W	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			3	481	+			99			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.295C>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136221	0.56936	.	.	ENSG00000136011	ENST00000388887	D	0.84442	-1.85	5.78	2.85	0.33270	.	0.758642	0.12650	N	0.450496	T	0.81442	0.4823	L	0.50919	1.6	0.24779	N	0.992825	D	0.53151	0.958	B	0.43123	0.409	T	0.71689	-0.4517	10	0.66056	D	0.02	.	9.7894	0.40697	0.0:0.6686:0.2559:0.0755	.	99	Q8WWQ8	STAB2_HUMAN	W	99	ENSP00000373539:R99W	ENSP00000373539:R99W	R	+	1	2	STAB2	102512382	0.633000	0.27181	0.898000	0.35279	0.513000	0.34164	0.670000	0.25157	0.856000	0.35383	0.591000	0.81541	CGG		0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			21	100	0	0	0	0	21	100				
HSP90B1	7184	broad.mit.edu	37	12	104335647	104335647	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:104335647A>T	ENST00000299767.5	+	11	1528	c.1346A>T	c.(1345-1347)gAg>gTg	p.E449V		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	449					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTTTCCCGCGAGACTCTTCAG	0.453																																						uc001tkb.1		NA																	0				ovary(2)|skin(1)	3						c.(1345-1347)GAG>GTG		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						81.0	79.0	80.0					12																	104335647		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104335647A>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1346A>T	12.37:g.104335647A>T	ENSP00000299767:p.Glu449Val					HSP90B1_uc010swg.1_Missense_Mutation_p.E114V|HSP90B1_uc009zui.1_Intron	p.E449V	NM_003299	NP_003290	P14625	ENPL_HUMAN			11	1451	+			449					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1346A>T	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654059	0.88056	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.28895	1.59	5.48	5.48	0.80851	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	H	0.99890	4.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88337	0.2972	10	0.87932	D	0	.	15.5821	0.76452	1.0:0.0:0.0:0.0	.	449	P14625	ENPL_HUMAN	V	449;199	ENSP00000299767:E449V	ENSP00000299767:E449V	E	+	2	0	HSP90B1	102859777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.264000	0.78432	2.060000	0.61445	0.533000	0.62120	GAG		0.453	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		18	58	0	0	0	0	18	58				
CHST11	50515	broad.mit.edu	37	12	105151344	105151344	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:105151344C>G	ENST00000303694.5	+	3	1261	c.822C>G	c.(820-822)gaC>gaG	p.D274E	CHST11_ENST00000549260.1_Missense_Mutation_p.D269E	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	274					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCCACTATGACCTCGTGGGCA	0.547																																						uc001tkx.1		NA																	0					0						c.(820-822)GAC>GAG		carbohydrate sulfotransferase 11							123.0	103.0	110.0					12																	105151344		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151344C>G	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.822C>G	12.37:g.105151344C>G	ENSP00000305725:p.Asp274Glu					CHST11_uc001tky.2_Missense_Mutation_p.D269E|uc001tkz.2_5'Flank	p.D274E	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN			4	1113	+			274			Lumenal (Potential).		A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.822C>G	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944585	0.73672	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.75050	-0.9;-0.9	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.89834	0.3998	10	0.66056	D	0.02	-23.4215	12.4503	0.55673	0.0:0.9236:0.0:0.0764	.	269;274	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	E	269;274	ENSP00000450004:D269E;ENSP00000305725:D274E	ENSP00000305725:D274E	D	+	3	2	CHST11	103675474	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.089000	0.57685	2.527000	0.85204	0.555000	0.69702	GAC		0.547	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		3	29	0	0	0	0	3	29				
ALDH2	217	broad.mit.edu	37	12	112229161	112229161	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:112229161G>T	ENST00000261733.2	+	7	794	c.733G>T	c.(733-735)Gct>Tct	p.A245S	ALDH2_ENST00000416293.3_Missense_Mutation_p.A198S|RP11-162P23.2_ENST00000546840.2_Silent_p.R241R	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	245					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	TGGCCCCACGGCTGGGGCCGC	0.587			T	HMGA2	leiomyoma																																	uc001tst.2		NA		Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(733-735)GCT>TCT		mitochondrial aldehyde dehydrogenase 2	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						64.0	46.0	52.0					12																	112229161		2203	4299	6502	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity	g.chr12:112229161G>T	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.733G>T	12.37:g.112229161G>T	ENSP00000261733:p.Ala245Ser					ALDH2_uc010syi.1_Missense_Mutation_p.A198S|ALDH2_uc009zvy.2_Intron	p.A245S	NM_000690	NP_000681	P05091	ALDH2_HUMAN			7	1174	+			245					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.733G>T	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020153	0.75275	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000416293;ENST00000261733;ENST00000552234	T;T	0.77877	-1.13;-1.13	5.57	5.57	0.84162	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.87269	2.87	0.80722	D	1	P;P	0.52577	0.954;0.891	P;D	0.66084	0.904;0.941	D	0.90947	0.4802	10	0.87932	D	0	.	19.1669	0.93561	0.0:0.0:1.0:0.0	.	198;245	E7EUE5;P05091	.;ALDH2_HUMAN	S	226;198;245;105	ENSP00000403349:A198S;ENSP00000261733:A245S	ENSP00000261733:A245S	A	+	1	0	ALDH2;RP11-162P23.2	110713544	1.000000	0.71417	0.169000	0.22859	0.034000	0.12701	7.392000	0.79840	2.614000	0.88457	0.563000	0.77884	GCT		0.587	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		5	18	1	0	0.00307968	0.00513587	5	18				
RPL6	6128	broad.mit.edu	37	12	112846080	112846080	+	Missense_Mutation	SNP	C	C	G	rs374409508		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:112846080C>G	ENST00000424576.2	-	3	485	c.300G>C	c.(298-300)aaG>aaC	p.K100N	RPL6_ENST00000202773.9_Missense_Mutation_p.K100N	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	100			K -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TACCGCCGTTCTTGTCACCAC	0.413																																						uc001ttu.2		NA																	0		p.K100Q(1)		large_intestine(1)	1						c.(298-300)AAG>AAC		ribosomal protein L6							83.0	85.0	84.0					12																	112846080		2203	4300	6503	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112846080C>G	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.300G>C	12.37:g.112846080C>G	ENSP00000403172:p.Lys100Asn					RPL6_uc001ttv.2_Missense_Mutation_p.K100N|RPL6_uc009zwd.1_3'UTR	p.K100N	NM_001024662	NP_001019833	Q02878	RL6_HUMAN			3	529	-			100		K -> Q (in a colorectal cancer sample; somatic mutation).			Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.300G>C	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152260	0.57259	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000549847;ENST00000553213;ENST00000551291;ENST00000548343	T;T	0.39056	1.1;1.1	5.12	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.87328	2.875	0.50467	D	0.999878	P	0.42337	0.776	B	0.42555	0.391	T	0.56159	-0.8025	10	0.62326	D	0.03	.	10.9603	0.47381	0.0:0.8425:0.0:0.1575	.	100	Q02878	RL6_HUMAN	N	100;100;40;100;100;100;100	ENSP00000202773:K100N;ENSP00000403172:K100N	ENSP00000202773:K100N	K	-	3	2	RPL6	111330463	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.869000	0.39519	0.511000	0.28236	-0.137000	0.14449	AAG		0.413	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			10	74	0	0	0	0	10	74				
DDX54	79039	broad.mit.edu	37	12	113614713	113614713	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:113614713C>A	ENST00000306014.5	-	7	711	c.684G>T	c.(682-684)gtG>gtT	p.V228V	DDX54_ENST00000314045.7_Silent_p.V228V|Y_RNA_ENST00000364338.1_RNA	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	228	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCACATGCACCAACCGTC	0.592																																						uc001tup.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(682-684)GTG>GTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							144.0	121.0	129.0					12																	113614713		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113614713C>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.684G>T	12.37:g.113614713C>A						DDX54_uc001tuq.3_Silent_p.V228V	p.V228V	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			7	712	-			228			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.684G>T	CCDS31907.1																																																																																				0.592	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		16	55	1	0	3.41e-10	6.8e-10	16	55				
RBM19	9904	broad.mit.edu	37	12	114261089	114261089	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:114261089C>G	ENST00000545145.2	-	24	2901	c.2823G>C	c.(2821-2823)gaG>gaC	p.E941D	RBM19_ENST00000261741.5_Missense_Mutation_p.E941D|RBM19_ENST00000392561.3_Missense_Mutation_p.E941D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	941					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTCCAGGATCTCGTCCAACA	0.622																																						uc009zwi.2		NA																	0				skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(2821-2823)GAG>GAC		RNA binding motif protein 19							52.0	46.0	48.0					12																	114261089		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114261089C>G	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2823G>C	12.37:g.114261089C>G	ENSP00000442053:p.Glu941Asp					RBM19_uc001tvn.3_Missense_Mutation_p.E941D|RBM19_uc001tvm.2_Missense_Mutation_p.E941D	p.E941D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			24	2967	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		941					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2823G>C	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	3.817	-0.038449	0.07497	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05996	3.36;3.36;3.36	4.39	4.39	0.52855	.	0.285317	0.33691	N	0.004659	T	0.04227	0.0117	N	0.19112	0.55	0.31655	N	0.646369	B	0.10296	0.003	B	0.06405	0.002	T	0.17776	-1.0358	10	0.17832	T	0.49	-15.6764	9.9484	0.41623	0.0:0.9031:0.0:0.0969	.	941	Q9Y4C8	RBM19_HUMAN	D	941	ENSP00000442053:E941D;ENSP00000376344:E941D;ENSP00000261741:E941D	ENSP00000261741:E941D	E	-	3	2	RBM19	112745472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.778000	0.26732	2.281000	0.76405	0.462000	0.41574	GAG		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		3	29	0	0	0	0	3	29				
TBX5	6910	broad.mit.edu	37	12	114839711	114839711	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:114839711G>C	ENST00000310346.4	-	3	828	c.162C>G	c.(160-162)atC>atG	p.I54M	TBX5_ENST00000405440.2_Missense_Mutation_p.I54M|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.I54M|TBX5_ENST00000349716.5_Missense_Mutation_p.I4M	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	54			I -> T (in HOS). {ECO:0000269|PubMed:10842287}.		apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAAACACTTTGATTCCCTCCA	0.473																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(160-162)ATC>ATG		T-box 5 isoform 1							134.0	111.0	119.0					12																	114839711		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114839711G>C	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.162C>G	12.37:g.114839711G>C	ENSP00000309913:p.Ile54Met					TBX5_uc001tvp.2_Missense_Mutation_p.I54M|TBX5_uc001tvq.2_Missense_Mutation_p.I4M|TBX5_uc010syv.1_Missense_Mutation_p.I54M	p.I54M	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	3	657	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		54		I -> T (in HOS).			A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.162C>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380709	0.61845	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440;ENST00000526441	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.07	4.16	0.48862	p53-like transcription factor, DNA-binding (1);	0.050060	0.85682	D	0.000000	D	0.90096	0.6906	L	0.34521	1.04	0.45762	D	0.998653	P;P	0.50819	0.939;0.91	P;B	0.54346	0.749;0.405	D	0.90629	0.4565	10	0.72032	D	0.01	.	13.7876	0.63119	0.0:0.0:0.8456:0.1544	.	54;54	Q99593-2;Q99593	.;TBX5_HUMAN	M	4;54;54;54	ENSP00000337723:I4M;ENSP00000309913:I54M;ENSP00000384152:I54M;ENSP00000433292:I54M	ENSP00000309913:I54M	I	-	3	3	TBX5	113324094	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.410000	0.34691	1.092000	0.41356	0.561000	0.74099	ATC		0.473	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		6	41	0	0	0	0	6	41				
CIT	11113	broad.mit.edu	37	12	120135524	120135524	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:120135524T>A	ENST00000261833.7	-	45	5748	c.5696A>T	c.(5695-5697)aAg>aTg	p.K1899M	RP1-127H14.3_ENST00000535109.1_5'Flank|CIT_ENST00000392521.2_Missense_Mutation_p.K1941M|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1899					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)		GAGGTTTCCCTTGCAGCAAAT	0.582																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(5695-5697)AAG>ATG		citron							101.0	105.0	104.0					12																	120135524		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120135524T>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.5696A>T	12.37:g.120135524T>A	ENSP00000261833:p.Lys1899Met					CIT_uc001txh.1_Missense_Mutation_p.K1418M|CIT_uc001txj.1_Missense_Mutation_p.K1941M	p.K1899M	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	45	5749	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1899					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.5696A>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.8|26.8	4.768806|4.768806	0.90020|0.90020	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.67345|.	-0.26;-0.26|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71108|0.71108	0.3301|0.3301	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.994|.	D;D;P|.	0.80764|.	0.956;0.994;0.904|.	T|T	0.70967|0.70967	-0.4728|-0.4728	10|5	0.87932|.	D|.	0|.	.|.	15.1471|15.1471	0.72662|0.72662	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1941;1899;1417|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	M|W	1941;1899|1512	ENSP00000376306:K1941M;ENSP00000261833:K1899M|.	ENSP00000261833:K1899M|.	K|R	-|-	2|1	0|2	CIT|CIT	118619907|118619907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.788000|7.788000	0.85771|0.85771	2.034000|2.034000	0.60081|0.60081	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.582	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		24	84	0	0	0	0	24	84				
ATP6V0A2	23545	broad.mit.edu	37	12	124221632	124221632	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:124221632G>A	ENST00000330342.3	+	9	1100	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	284					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGGACTATTTGAGGCAAGTGC	0.507																																						uc001ufr.2		NA																	0				ovary(2)	2						c.(850-852)TTG>TTA		ATPase, H+ transporting, lysosomal V0 subunit							139.0	110.0	120.0					12																	124221632		2203	4300	6503	SO:0001819	synonymous_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124221632G>A	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.852G>A	12.37:g.124221632G>A						ATP6V0A2_uc001ufq.1_Silent_p.L284L	p.L284L	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	9	1100	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		284			Cytoplasmic (Potential).		A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	c.852G>A	CCDS9254.1																																																																																				0.507	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		11	109	0	0	0	0	11	109				
SLC15A4	121260	broad.mit.edu	37	12	129283841	129283841	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:129283841G>C	ENST00000266771.5	-	7	1575	c.1536C>G	c.(1534-1536)atC>atG	p.I512M	SLC15A4_ENST00000544112.1_Missense_Mutation_p.I175M|SLC15A4_ENST00000545031.1_Missense_Mutation_p.I29M	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	512					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CGATGGCTTTGATAGACACCA	0.547																																						uc001uhu.2		NA																	0					0						c.(1534-1536)ATC>ATG		solute carrier family 15, member 4							115.0	108.0	110.0					12																	129283841		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129283841G>C	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1536C>G	12.37:g.129283841G>C	ENSP00000266771:p.Ile512Met					SLC15A4_uc001uhv.2_RNA	p.I512M	NM_145648	NP_663623	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	7	1589	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		512					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.1536C>G	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	3.994	-0.003949	0.07773	.	.	ENSG00000139370	ENST00000266771;ENST00000545031;ENST00000544112	T;T	0.11712	4.01;2.75	5.0	1.92	0.25849	Major facilitator superfamily domain, general substrate transporter (1);	0.818105	0.11208	N	0.588011	T	0.08044	0.0201	L	0.40543	1.245	0.09310	N	0.999996	B	0.34181	0.44	B	0.32211	0.142	T	0.30534	-0.9975	10	0.34782	T	0.22	.	4.3067	0.10951	0.2157:0.496:0.2883:0.0	.	512	Q8N697	S15A4_HUMAN	M	512;29;175	ENSP00000266771:I512M;ENSP00000439946:I175M	ENSP00000266771:I512M	I	-	3	3	SLC15A4	127849794	1.000000	0.71417	0.012000	0.15200	0.019000	0.09904	1.967000	0.40491	1.078000	0.41014	0.655000	0.94253	ATC		0.547	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		16	57	0	0	0	0	16	57				
TMEM132D	121256	broad.mit.edu	37	12	129558977	129558977	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:129558977C>G	ENST00000422113.2	-	9	3069	c.2743G>C	c.(2743-2745)Gac>Cac	p.D915H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D453H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	915					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.D915N(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATTTCTAAGTCGCTCAGCCCT	0.488																																						uc009zyl.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2743-2745)GAC>CAC		transmembrane protein 132D precursor							133.0	115.0	121.0					12																	129558977		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558977C>G	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.2743G>C	12.37:g.129558977C>G	ENSP00000408581:p.Asp915His					TMEM132D_uc001uia.2_Missense_Mutation_p.D453H	p.D915H	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3071	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	915			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2743G>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777473	0.49786	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.26660	1.72;1.72	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000003	T	0.58018	0.2093	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68530	-0.5384	9	.	.	.	-36.0019	16.905	0.86124	0.0:1.0:0.0:0.0	.	915;453	Q14C87;Q14C87-2	T132D_HUMAN;.	H	453;915	ENSP00000374092:D453H;ENSP00000408581:D915H	.	D	-	1	0	TMEM132D	128124930	1.000000	0.71417	0.359000	0.25824	0.148000	0.21650	7.539000	0.82063	2.038000	0.60285	0.467000	0.42956	GAC		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		10	52	0	0	0	0	10	52				
RIMBP2	23504	broad.mit.edu	37	12	130912810	130912810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:130912810C>A	ENST00000261655.4	-	12	2438	c.2275G>T	c.(2275-2277)Gag>Tag	p.E759*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	759					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCTCGTCCTCCTCCATGATG	0.612																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2275-2277)GAG>TAG		RIM-binding protein 2							93.0	74.0	81.0					12																	130912810		2203	4300	6503	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130912810C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2275G>T	12.37:g.130912810C>A	ENSP00000261655:p.Glu759*						p.E759*	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	12	2439	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	759					Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.2275G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	42	9.735511	0.99251	.	.	ENSG00000060709	ENST00000261655	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-33.916	18.2467	0.89988	0.0:1.0:0.0:0.0	.	.	.	.	X	759	.	ENSP00000261655:E759X	E	-	1	0	RIMBP2	129478763	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.791000	0.85805	2.306000	0.77630	0.561000	0.74099	GAG		0.612	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		11	57	1	0	9.7e-10	1.92e-09	11	57				
ANKLE2	23141	broad.mit.edu	37	12	133327233	133327233	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr12:133327233C>T	ENST00000357997.5	-	3	932	c.843G>A	c.(841-843)ttG>ttA	p.L281L	ANKLE2_ENST00000539605.1_Silent_p.L219L|ANKLE2_ENST00000337516.5_Silent_p.L281L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	281					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATTTACCTTTCAACCTGTCAT	0.423																																						uc001ukx.2		NA																	0					0						c.(841-843)TTG>TTA		ankyrin repeat and LEM domain containing 2							91.0	86.0	88.0					12																	133327233		1942	4143	6085	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327233C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.843G>A	12.37:g.133327233C>T						ANKLE2_uc001uky.3_Silent_p.L219L	p.L281L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	910	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	281					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.843G>A	CCDS41869.1																																																																																				0.423	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			6	39	0	0	0	0	6	39				
PABPC3	5042	broad.mit.edu	37	13	25671507	25671507	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:25671507G>A	ENST00000281589.3	+	1	1208	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	391					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTGTACGAGCTGTGCCCAA	0.507																																						uc001upy.2		NA																	0				ovary(3)|skin(1)	4						c.(1171-1173)GCT>ACT		poly(A) binding protein, cytoplasmic 3							160.0	146.0	150.0					13																	25671507		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671507G>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1171G>A	13.37:g.25671507G>A	ENSP00000281589:p.Ala391Thr						p.A391T	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1232	+		Lung SC(185;0.0225)|Breast(139;0.0602)	391					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1171G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.693	0.128853	0.08981	.	.	ENSG00000151846	ENST00000281589	T	0.28666	1.6	1.41	0.172	0.15031	.	0.000000	0.38005	U	0.001845	T	0.19406	0.0466	L	0.41027	1.25	0.39380	D	0.966248	B	0.24533	0.105	B	0.25987	0.065	T	0.05435	-1.0885	10	0.29301	T	0.29	.	4.77	0.13151	0.0:0.4023:0.5977:0.0	.	391	Q9H361	PABP3_HUMAN	T	391	ENSP00000281589:A391T	ENSP00000281589:A391T	A	+	1	0	PABPC3	24569507	1.000000	0.71417	0.955000	0.39395	0.111000	0.19643	6.211000	0.72182	0.759000	0.33084	0.313000	0.20887	GCT		0.507	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		21	99	0	0	0	0	21	99				
ATP8A2	51761	broad.mit.edu	37	13	26402328	26402328	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:26402328G>T	ENST00000381655.2	+	28	2894	c.2752G>T	c.(2752-2754)Gtg>Ttg	p.V918L	ATP8A2_ENST00000255283.8_Intron|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	878					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTGTACAATGTGGTAAGCAT	0.398																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2752-2754)GTG>TTG		ATPase, aminophospholipid transporter-like,							244.0	226.0	232.0					13																	26402328		1924	4143	6067	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26402328G>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2752G>T	13.37:g.26402328G>T	ENSP00000371070:p.Val918Leu					ATP8A2_uc010tdi.1_Intron|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.V468L	p.V918L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	28	2894	+		Breast(139;0.0201)|Lung SC(185;0.0225)	878			Helical; (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2752G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115824	0.94339	.	.	ENSG00000132932	ENST00000381655;ENST00000544544	D	0.84442	-1.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.38692	1.165	0.80722	D	1	P;P	0.49696	0.927;0.881	P;P	0.50934	0.654;0.452	D	0.84500	0.0616	10	0.42905	T	0.14	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	698;878	F5GZN5;Q9NTI2	.;AT8A2_HUMAN	L	918;698	ENSP00000371070:V918L	ENSP00000371070:V918L	V	+	1	0	ATP8A2	25300328	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GTG		0.398	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		26	127	1	0	1.34e-20	2.86e-20	26	127				
FLT3	2322	broad.mit.edu	37	13	28624246	28624246	+	Missense_Mutation	SNP	C	C	A	rs61729144	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:28624246C>A	ENST00000241453.7	-	6	809	c.728G>T	c.(727-729)aGg>aTg	p.R243M	FLT3_ENST00000537084.1_Missense_Mutation_p.R243M|FLT3_ENST00000380982.4_Missense_Mutation_p.R243M	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	243					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGAACAGCCTGGTGCATTC	0.428			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(727-729)AGG>ATG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						170.0	147.0	155.0					13																	28624246		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28624246C>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.728G>T	13.37:g.28624246C>A	ENSP00000241453:p.Arg243Met					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R243M	p.R243M	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	6	810	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	243			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.728G>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372629	0.24857	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78595	-1.12;-1.19;-0.91	5.64	3.21	0.36854	.	0.316734	0.31589	N	0.007391	T	0.53802	0.1819	N	0.08118	0	0.24761	N	0.992925	P;P	0.47350	0.894;0.831	B;B	0.38378	0.272;0.129	T	0.51028	-0.8757	10	0.45353	T	0.12	.	8.1788	0.31298	0.0:0.2471:0.0:0.7529	.	243;243	P36888-2;P36888	.;FLT3_HUMAN	M	243	ENSP00000241453:R243M;ENSP00000370369:R243M;ENSP00000438139:R243M	ENSP00000241453:R243M	R	-	2	0	FLT3	27522246	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	1.829000	0.39121	0.981000	0.38548	-0.379000	0.06801	AGG		0.428	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			21	101	1	0	4.35e-09	8.5e-09	21	101				
FRY	10129	broad.mit.edu	37	13	32813472	32813472	+	Missense_Mutation	SNP	G	G	A	rs369326494		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:32813472G>A	ENST00000380250.3	+	45	6998	c.6502G>A	c.(6502-6504)Gaa>Aaa	p.E2168K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2168						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGATATAGCCGAAAGGATTGC	0.463																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(6502-6504)GAA>AAA		furry homolog		G	LYS/GLU	0,3792		0,0,1896	118.0	108.0	111.0		6502	5.1	0.9	13		111	1,8233		0,1,4116	no	missense	FRY	NM_023037.2	56	0,1,6012	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging	2168/3014	32813472	1,12025	1896	4117	6013	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32813472G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6502G>A	13.37:g.32813472G>A	ENSP00000369600:p.Glu2168Lys					FRY_uc010tdw.1_RNA	p.E2168K	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	45	6998	+		Lung SC(185;0.0271)	2168					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6502G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244304	0.95272	0.0	1.21E-4	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.26373	1.74	5.93	5.09	0.68999	.	0.093272	0.64402	D	0.000001	T	0.39835	0.1093	M	0.75777	2.31	0.80722	D	1	D	0.61697	0.99	P	0.50440	0.641	T	0.30504	-0.9976	10	0.33141	T	0.24	.	15.1295	0.72511	0.0674:0.0:0.9326:0.0	.	2168	Q5TBA9	FRY_HUMAN	K	2168;1005	ENSP00000369600:E2168K	ENSP00000369600:E2168K	E	+	1	0	FRY	31711472	1.000000	0.71417	0.916000	0.36221	0.991000	0.79684	7.803000	0.85983	1.529000	0.49120	0.655000	0.94253	GAA		0.463	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	58	0	0	0	0	6	58				
PDS5B	23047	broad.mit.edu	37	13	33271024	33271024	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:33271024G>T	ENST00000315596.10	+	15	1771	c.1585G>T	c.(1585-1587)Gtg>Ttg	p.V529L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	529					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATTTTCAAAAGTGATGGTTAT	0.259																																						uc010abf.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(1585-1587)GTG>TTG		PDS5, regulator of cohesion maintenance, homolog							104.0	95.0	97.0					13																	33271024		1794	4063	5857	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33271024G>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1585G>T	13.37:g.33271024G>T	ENSP00000313851:p.Val529Leu					PDS5B_uc010abg.2_RNA	p.V529L	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	15	1743	+		Lung SC(185;0.0367)	529					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1585G>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993772	0.19043	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.57273	0.41	5.37	5.37	0.77165	Armadillo-type fold (1);	0.055231	0.64402	D	0.000001	T	0.36608	0.0973	N	0.05383	-0.06	0.54753	D	0.999987	B	0.09022	0.002	B	0.09377	0.004	T	0.11567	-1.0582	10	0.37606	T	0.19	0.5695	19.1053	0.93293	0.0:0.0:1.0:0.0	.	529	Q9NTI5	PDS5B_HUMAN	L	529	ENSP00000313851:V529L	ENSP00000313851:V529L	V	+	1	0	PDS5B	32169024	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.361000	0.52306	2.518000	0.84900	0.491000	0.48974	GTG		0.259	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		18	54	1	0	2.22e-12	4.54e-12	18	54				
SOHLH2	54937	broad.mit.edu	37	13	36744767	36744767	+	Silent	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:36744767T>G	ENST00000379881.3	-	10	1246	c.1158A>C	c.(1156-1158)tcA>tcC	p.S386S	SOHLH2_ENST00000554962.1_Silent_p.S463S|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S463S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	386					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GTAAATGAATTGAAATGTTCT	0.493																																						uc001uvj.2		NA																	0					0						c.(1156-1158)TCA>TCC		spermatogenesis and oogenesis specific basic							142.0	127.0	132.0					13																	36744767		2203	4300	6503	SO:0001819	synonymous_variant	54937				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	g.chr13:36744767T>G	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1158A>C	13.37:g.36744767T>G						SOHLH2_uc010tei.1_Silent_p.S463S	p.S386S	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	10	1247	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	386					B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.1158A>C	CCDS9355.1																																																																																				0.493	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		7	63	0	0	0	0	7	63				
SUPT20H	55578	broad.mit.edu	37	13	37622712	37622712	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:37622712C>G	ENST00000350612.6	-	3	248	c.28G>C	c.(28-30)Gat>Cat	p.D10H	SUPT20H_ENST00000470359.2_5'UTR|SUPT20H_ENST00000356185.3_Missense_Mutation_p.D10H|SUPT20H_ENST00000360252.4_Missense_Mutation_p.D10H|SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000464744.1_Missense_Mutation_p.D10H|SUPT20H_ENST00000475892.1_Missense_Mutation_p.D10H	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	10					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TCTGCACGATCCAAAGCTAGT	0.269																																						uc001uwg.2		NA																	0					0						c.(28-30)GAT>CAT		family with sequence similarity 48, member A							90.0	87.0	88.0					13																	37622712		2203	4297	6500	SO:0001583	missense	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37622712C>G	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.28G>C	13.37:g.37622712C>G	ENSP00000218894:p.Asp10His					FAM48A_uc010abt.2_Missense_Mutation_p.D10H|FAM48A_uc001uwh.2_Missense_Mutation_p.D10H|FAM48A_uc001uwi.2_Missense_Mutation_p.D10H|FAM48A_uc001uwj.2_Missense_Mutation_p.D10H|FAM48A_uc001uwk.2_Missense_Mutation_p.D10H|FAM48A_uc010tes.1_Intron|FAM48A_uc001uwl.1_Missense_Mutation_p.D10H	p.D10H	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	3	276	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	10					E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.28G>C	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582630	0.86748	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000497318	T;T;T;T;T;T	0.55234	0.53;0.53;1.1;0.53;0.53;0.78	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.989;0.984;0.993;0.998;0.994	T	0.71676	-0.4521	10	0.87932	D	0	-19.9846	19.1061	0.93296	0.0:1.0:0.0:0.0	.	10;10;10;10;10	B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;FA48A_HUMAN	H	10	ENSP00000353388:D10H;ENSP00000417510:D10H;ENSP00000218894:D10H;ENSP00000348512:D10H;ENSP00000419754:D10H;ENSP00000420170:D10H	ENSP00000218894:D10H	D	-	1	0	FAM48A	36520712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.326000	0.79133	2.522000	0.85027	0.563000	0.77884	GAT		0.269	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		7	39	0	0	0	0	7	39				
POSTN	10631	broad.mit.edu	37	13	38143521	38143521	+	Splice_Site	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:38143521C>T	ENST00000379747.4	-	21	2465		c.e21-1		POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000497145.1_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541179.1_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTGGTGACCTCTGAGAGGATA	0.348																																						uc001uwo.3		NA																	0				ovary(2)	2						c.e21-1		periostin, osteoblast specific factor isoform 1							93.0	88.0	89.0					13																	38143521		2203	4300	6503	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38143521C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2348-1G>A	13.37:g.38143521C>T						POSTN_uc010tet.1_Splice_Site_p.E284_splice|POSTN_uc001uwp.3_Splice_Site_p.E726_splice|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Splice_Site_p.E756_splice|POSTN_uc010tev.1_Splice_Site_p.E696_splice|POSTN_uc010tew.1_Intron	p.E783_splice	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	21	2466	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37	c.2348_splice	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565836	0.65651	.	.	ENSG00000133110	ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7603	0.88462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37041521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.673000	0.68109	2.612000	0.88384	0.650000	0.86243	.		0.348	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	9	48	0	0	0	0	9	48				
ZC3H13	23091	broad.mit.edu	37	13	46542018	46542018	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:46542018C>T	ENST00000242848.4	-	15	4290	c.3942G>A	c.(3940-3942)gaG>gaA	p.E1314E	ZC3H13_ENST00000378921.2_Silent_p.E270E|ZC3H13_ENST00000282007.3_Silent_p.E1314E			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1314							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tatctctcctctctctctcgc	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	0				ovary(1)|lung(1)	2						c.(3940-3942)GAG>GAA		zinc finger CCCH-type containing 13							296.0	206.0	237.0					13																	46542018		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542018C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3942G>A	13.37:g.46542018C>T						ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Silent_p.E1314E	p.E1314E	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3948	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1314			Potential.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.3942G>A																																																																																					0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		12	66	0	0	0	0	12	66				
PCDH9	5101	broad.mit.edu	37	13	67801710	67801710	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:67801710C>T	ENST00000377865.2	-	1	997	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	PCDH9_ENST00000328454.5_Missense_Mutation_p.R288Q|PCDH9_ENST00000544246.1_Missense_Mutation_p.R288Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.R288Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.R288Q			Q9HC56	PCDH9_HUMAN	protocadherin 9	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R288L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAAATGTACCGGATTTCAGC	0.463																																						uc001vik.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(862-864)CGG>CAG		protocadherin 9 isoform 1 precursor							99.0	98.0	98.0					13																	67801710		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801710C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.863G>A	13.37:g.67801710C>T	ENSP00000367096:p.Arg288Gln					PCDH9_uc001vil.2_Missense_Mutation_p.R288Q|PCDH9_uc010thl.1_Missense_Mutation_p.R288Q|PCDH9_uc001vin.3_Missense_Mutation_p.R288Q	p.R288Q	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1555	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	288			Extracellular (Potential).|Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.863G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	9.780	1.175020	0.21704	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.239744	0.43416	D	0.000578	T	0.36963	0.0986	L	0.31578	0.945	0.43942	D	0.996605	B;B;B;B	0.19583	0.001;0.037;0.003;0.015	B;B;B;B	0.09377	0.003;0.004;0.001;0.004	T	0.07849	-1.0751	10	0.37606	T	0.19	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	288;288;288;288	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	Q	288	ENSP00000442186:R288Q;ENSP00000367096:R288Q;ENSP00000401699:R288Q;ENSP00000332060:R288Q;ENSP00000367092:R288Q	ENSP00000332060:R288Q	R	-	2	0	PCDH9	66699711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.892000	0.39748	2.941000	0.99782	0.655000	0.94253	CGG		0.463	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		17	95	0	0	0	0	17	95				
KLHL1	57626	broad.mit.edu	37	13	70456497	70456497	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:70456497C>A	ENST00000377844.4	-	5	1904	c.1145G>T	c.(1144-1146)tGg>tTg	p.W382L	KLHL1_ENST00000545028.1_Missense_Mutation_p.W189L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	382					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATACTTGACCCACATCATCAA	0.453																																						uc001vip.2		NA																	0					0						c.(1144-1146)TGG>TTG		kelch-like 1 protein							174.0	139.0	151.0					13																	70456497		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70456497C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1145G>T	13.37:g.70456497C>A	ENSP00000367075:p.Trp382Leu					KLHL1_uc010thm.1_Missense_Mutation_p.W321L	p.W382L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	5	1939	-		Breast(118;0.000162)	382					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1145G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611663	0.87258	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.85411	-1.98;-1.98	5.03	5.03	0.67393	BTB/Kelch-associated (2);	0.000000	0.64402	D	0.000011	D	0.95812	0.8637	H	0.98646	4.29	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97680	1.0172	10	0.87932	D	0	.	18.7158	0.91675	0.0:1.0:0.0:0.0	.	382;382	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	L	382;189	ENSP00000367075:W382L;ENSP00000439602:W189L	ENSP00000367075:W382L	W	-	2	0	KLHL1	69354498	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.494000	0.84150	0.591000	0.81541	TGG		0.453	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		10	45	1	0	0.000442599	0.000761358	10	45				
SLITRK6	84189	broad.mit.edu	37	13	86369101	86369101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:86369101C>A	ENST00000400286.2	-	2	2141	c.1543G>T	c.(1543-1545)Gag>Tag	p.E515*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	515					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGGTTATCCTCAAGGTCAATC	0.423																																						uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1543-1545)GAG>TAG		slit and trk like 6 precursor							84.0	85.0	85.0					13																	86369101		1933	4135	6068	SO:0001587	stop_gained	84189					integral to membrane		g.chr13:86369101C>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1543G>T	13.37:g.86369101C>A	ENSP00000383143:p.Glu515*					SLITRK6_uc010afe.1_Intron	p.E515*	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2002	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		515			Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	c.1543G>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	42	9.341324	0.99142	.	.	ENSG00000184564	ENST00000400286	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-10.0503	14.3854	0.66940	0.0:0.8523:0.1477:0.0	.	.	.	.	X	515	.	ENSP00000383143:E515X	E	-	1	0	SLITRK6	85267102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.776000	0.95493	0.655000	0.94253	GAG		0.423	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		10	81	1	0	0.000673444	0.00114853	10	81				
SLITRK5	26050	broad.mit.edu	37	13	88329558	88329558	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:88329558C>A	ENST00000325089.6	+	2	2134	c.1915C>A	c.(1915-1917)Cct>Act	p.P639T	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P398T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	639					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.P639T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGCCGTGACTCCTGCGGTCCG	0.622																																						uc001vln.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1915-1917)CCT>ACT		SLIT and NTRK-like family, member 5 precursor							82.0	84.0	83.0					13																	88329558		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329558C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1915C>A	13.37:g.88329558C>A	ENSP00000366283:p.Pro639Thr					SLITRK5_uc010tic.1_Missense_Mutation_p.P398T	p.P639T	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2134	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		639			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1915C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	4.906	0.168443	0.09339	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.6	5.47	3.39	0.38822	.	0.192485	0.44902	N	0.000417	T	0.29126	0.0724	N	0.05124	-0.11	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.10917	-1.0609	9	.	.	.	-7.659	5.7262	0.18015	0.1975:0.6755:0.0:0.127	.	398;639	B4DSH5;O94991	.;SLIK5_HUMAN	T	639;398	ENSP00000366283:P639T;ENSP00000442244:P398T	.	P	+	1	0	SLITRK5	87127559	0.000000	0.05858	0.802000	0.32245	0.712000	0.41017	0.356000	0.20181	1.231000	0.43661	0.555000	0.69702	CCT		0.622	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			12	66	1	0	7.04e-09	1.37e-08	12	66				
NALCN	259232	broad.mit.edu	37	13	101944439	101944439	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:101944439A>G	ENST00000251127.6	-	9	1030	c.949T>C	c.(949-951)Ttt>Ctt	p.F317L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.F317L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	317					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGCAATAAACACGTTCTGA	0.403																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(949-951)TTT>CTT		voltage gated channel like 1							153.0	129.0	137.0					13																	101944439		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944439A>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.949T>C	13.37:g.101944439A>G	ENSP00000251127:p.Phe317Leu					NALCN_uc001voy.2_Missense_Mutation_p.F32L|NALCN_uc001voz.2_Missense_Mutation_p.F317L|NALCN_uc001vpa.2_Missense_Mutation_p.F317L	p.F317L	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			9	1138	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		317			Helical; Name=S6 of repeat I; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.949T>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	34	5.293367	0.95546	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98221	-4.8;-4.8	6.16	6.16	0.99307	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.99719	1.1009	10	0.51188	T	0.08	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	317;317;317	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	L	317	ENSP00000251127:F317L;ENSP00000365367:F317L	ENSP00000251127:F317L	F	-	1	0	NALCN	100742440	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	TTT		0.403	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		5	14	0	0	0	0	5	14				
TPP2	7174	broad.mit.edu	37	13	103282533	103282533	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:103282533C>G	ENST00000376065.4	+	10	1268	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	TPP2_ENST00000376052.3_Missense_Mutation_p.S411C	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	411	Peptidase S8.				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)					ACTTGGTCTTCTAGAGGACCT	0.413																																						uc001vpi.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1231-1233)TCT>TGT		tripeptidyl peptidase II							113.0	102.0	106.0					13																	103282533		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103282533C>G	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	ENST00000376065.4:c.1232C>G	13.37:g.103282533C>G	ENSP00000365233:p.Ser411Cys						p.S411C	NM_003291	NP_003282	P29144	TPP2_HUMAN			10	1335	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		411					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.1232C>G	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710628	0.89112	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.55052	0.54;0.54	5.8	5.8	0.92144	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82824	-0.0266	10	0.87932	D	0	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	411	P29144	TPP2_HUMAN	C	411	ENSP00000365233:S411C;ENSP00000365220:S411C	ENSP00000365220:S411C	S	+	2	0	TPP2	102080534	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	7.266000	0.78452	2.758000	0.94735	0.563000	0.77884	TCT		0.413	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			14	41	0	0	0	0	14	41				
KDELC1	79070	broad.mit.edu	37	13	103443611	103443611	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:103443611C>A	ENST00000376004.4	-	5	1178	c.842G>T	c.(841-843)gGc>gTc	p.G281V	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	281						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTCTCACCGGCCCATGGTTTC	0.453																																						uc001vpq.3		NA																	0				ovary(1)	1						c.(841-843)GGC>GTC		KDEL (Lys-Asp-Glu-Leu) containing 1 precursor							229.0	248.0	242.0					13																	103443611		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443611C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.842G>T	13.37:g.103443611C>A	ENSP00000365172:p.Gly281Val					KDELC1_uc001vpr.3_Missense_Mutation_p.G62V	p.G281V	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN			5	1226	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		281					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.842G>T	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352425	0.82132	.	.	ENSG00000134901	ENST00000376004	T	0.25250	1.81	5.91	5.06	0.68205	.	0.097482	0.64402	D	0.000001	T	0.58595	0.2133	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68010	-0.5522	10	0.62326	D	0.03	.	14.7309	0.69379	0.0:0.9314:0.0:0.0686	.	281	Q6UW63	KDEL1_HUMAN	V	281	ENSP00000365172:G281V	ENSP00000365172:G281V	G	-	2	0	KDELC1	102241612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	1.502000	0.48669	0.655000	0.94253	GGC		0.453	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			60	259	1	0	1.84e-13	3.81e-13	60	259				
TUBGCP3	10426	broad.mit.edu	37	13	113208415	113208415	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:113208415T>C	ENST00000261965.3	-	8	1108	c.922A>G	c.(922-924)Acg>Gcg	p.T308A	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.T308A	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	308					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTCTGGTCCGTGTATCTTCTG	0.483																																						uc001vse.1		NA																	0				central_nervous_system(1)	1						c.(922-924)ACG>GCG		tubulin, gamma complex associated protein 3							114.0	106.0	109.0					13																	113208415		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113208415T>C	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.922A>G	13.37:g.113208415T>C	ENSP00000261965:p.Thr308Ala					TUBGCP3_uc010tjq.1_Missense_Mutation_p.T298A|TUBGCP3_uc001vsf.2_Missense_Mutation_p.T308A|TUBGCP3_uc001vsg.1_Missense_Mutation_p.T308A	p.T308A	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			8	1109	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		308					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.922A>G	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	T	5.996	0.367633	0.11352	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.07688	3.17;3.17	4.89	2.48	0.30137	.	0.106119	0.64402	N	0.000005	T	0.05181	0.0138	N	0.16602	0.42	0.43988	D	0.996682	B;B;B;B	0.11235	0.0;0.004;0.0;0.0	B;B;B;B	0.13407	0.003;0.009;0.002;0.003	T	0.40553	-0.9557	10	0.37606	T	0.19	-4.5957	8.3976	0.32566	0.0:0.164:0.0:0.836	.	298;308;308;308	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	A	308	ENSP00000261965:T308A;ENSP00000364821:T308A	ENSP00000261965:T308A	T	-	1	0	TUBGCP3	112256416	1.000000	0.71417	0.484000	0.27391	0.155000	0.21991	3.486000	0.53215	0.254000	0.21573	0.367000	0.22151	ACG		0.483	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		39	57	0	0	0	0	39	57				
TOX4	9878	broad.mit.edu	37	14	21960898	21960898	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:21960898T>G	ENST00000405508.1	+	8	1399	c.1123T>G	c.(1123-1125)Ttg>Gtg	p.L375V	TOX4_ENST00000262709.3_Missense_Mutation_p.L375V|TOX4_ENST00000448790.2_Missense_Mutation_p.L352V			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	375						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAAACAAATGTTGCCCTCTTC	0.493																																						uc001waz.2		NA																	0				ovary(1)	1						c.(1123-1125)TTG>GTG		epidermal Langerhans cell protein LCP1							115.0	121.0	119.0					14																	21960898		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960898T>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1123T>G	14.37:g.21960898T>G	ENSP00000385102:p.Leu375Val					TOX4_uc001way.2_Missense_Mutation_p.L245V|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.L352V|TOX4_uc010tlv.1_Missense_Mutation_p.L245V	p.L375V	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	7	1226	+	all_cancers(95;0.000465)		375					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1123T>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.156430	0.38119	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.14391	2.54;2.54;2.51	4.89	3.75	0.43078	.	0.382166	0.24081	N	0.041729	T	0.20577	0.0495	L	0.29908	0.895	0.45662	D	0.99858	D;D	0.63880	0.993;0.993	D;D	0.73708	0.981;0.981	T	0.02196	-1.1197	10	0.54805	T	0.06	.	6.0591	0.19828	0.0:0.2703:0.0:0.7297	.	352;375	B4DPY8;O94842	.;TOX4_HUMAN	V	375;375;352;303	ENSP00000385102:L375V;ENSP00000262709:L375V;ENSP00000393080:L352V	ENSP00000262709:L375V	L	+	1	2	TOX4	21030738	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	0.608000	0.24223	1.010000	0.39314	0.454000	0.30748	TTG		0.493	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		6	124	0	0	0	0	6	124				
AP1G2	8906	broad.mit.edu	37	14	24034829	24034829	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:24034829C>T	ENST00000308724.5	-	6	1482	c.727G>A	c.(727-729)Gac>Aac	p.D243N	AP1G2_ENST00000397120.3_Missense_Mutation_p.D243N|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	243					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGGAAGGGGTCGCTGACTCCA	0.557																																						uc001wkl.2		NA																	0				ovary(1)	1						c.(727-729)GAC>AAC		adaptor-related protein complex 1, gamma 2							76.0	67.0	70.0					14																	24034829		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24034829C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.727G>A	14.37:g.24034829C>T	ENSP00000312442:p.Asp243Asn					AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.D171N|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.D243N|AP1G2_uc010aks.2_Missense_Mutation_p.D171N|AP1G2_uc010akt.2_Missense_Mutation_p.D171N|AP1G2_uc010tnq.1_RNA	p.D243N	NM_003917	NP_003908	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	7	1064	-	all_cancers(95;0.000251)		243					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.727G>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648073	0.87958	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.25085	1.82;1.82	5.62	4.72	0.59763	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.87180	2.865	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.68192	0.923;0.956	T	0.56312	-0.8000	10	0.46703	T	0.11	-22.6408	12.8006	0.57584	0.0:0.9183:0.0:0.0817	.	243;98	O75843;Q86V28	AP1G2_HUMAN;.	N	243;243;33;98	ENSP00000312442:D243N;ENSP00000380309:D243N	ENSP00000312442:D243N	D	-	1	0	AP1G2	23104669	0.990000	0.36364	0.991000	0.47740	0.990000	0.78478	2.847000	0.48270	2.651000	0.90000	0.655000	0.94253	GAC		0.557	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		9	22	0	0	0	0	9	22				
TM9SF1	10548	broad.mit.edu	37	14	24659669	24659669	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:24659669C>G	ENST00000261789.4	-	5	1702	c.1344G>C	c.(1342-1344)aaG>aaC	p.K448N	TM9SF1_ENST00000528669.1_Missense_Mutation_p.K448N|TM9SF1_ENST00000524835.1_Missense_Mutation_p.K361N|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000556387.1_Missense_Mutation_p.K657N|TM9SF1_ENST00000530611.1_Missense_Mutation_p.K657N|TM9SF1_ENST00000396854.4_Missense_Mutation_p.K448N|IPO4_ENST00000354464.6_5'Flank	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	448					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GGGCGATGTTCTTGGTGCGAC	0.547																																						uc001wnb.1		NA																	0				ovary(1)	1						c.(1342-1344)AAG>AAC		transmembrane 9 superfamily member 1 isoform a							144.0	118.0	126.0					14																	24659669		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24659669C>G	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1344G>C	14.37:g.24659669C>G	ENSP00000261789:p.Lys448Asn					IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'UTR|TM9SF1_uc010toa.1_Missense_Mutation_p.K361N|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.K683N|TM9SF1_uc001wnc.2_Missense_Mutation_p.K448N	p.K448N	NM_006405	NP_006396	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	5	1692	-			448					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.1344G>C	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938111	0.52972	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.02	5.02	0.67125	.	0.128255	0.51477	D	0.000089	T	0.19005	0.0456	N	0.11673	0.155	0.45747	D	0.998641	B;B	0.15930	0.015;0.005	B;B	0.14578	0.011;0.007	T	0.07986	-1.0744	10	0.02654	T	1	-10.0435	15.8364	0.78801	0.0:1.0:0.0:0.0	.	448;448	Q86SZ6;O15321	.;TM9S1_HUMAN	N	448;448;657;361;448;657	ENSP00000261789:K448N;ENSP00000432997:K448N;ENSP00000451949:K657N;ENSP00000434387:K361N;ENSP00000380063:K448N;ENSP00000433967:K657N	ENSP00000433967:K657N	K	-	3	2	TM9SF1;RP11-468E2.1	23729509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.330000	0.33781	2.317000	0.78254	0.655000	0.94253	AAG		0.547	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405		19	58	0	0	0	0	19	58				
PRKD1	5587	broad.mit.edu	37	14	30066890	30066890	+	Silent	SNP	G	G	A	rs147092748		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:30066890G>A	ENST00000331968.5	-	16	2470	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	PRKD1_ENST00000415220.2_Silent_p.P755P	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	747	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCAGGTAAGCGGGGGTACCCA	0.488																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2239-2241)CCC>CCT		protein kinase D1		G		1,4405	2.1+/-5.4	0,1,2202	91.0	90.0	90.0		2241	-8.5	0.8	14	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	PRKD1	NM_002742.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		747/913	30066890	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066890G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2241C>T	14.37:g.30066890G>A							p.P747P	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2422	-	Hepatocellular(127;0.0604)		747			Protein kinase.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.2241C>T	CCDS9637.1																																																																																				0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		22	38	0	0	0	0	22	38				
NKX2-1	7080	broad.mit.edu	37	14	36988380	36988380	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:36988380G>A	ENST00000518149.1	-	2	788	c.183C>T	c.(181-183)caC>caT	p.H61H	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Silent_p.H61H|NKX2-1_ENST00000354822.5_Silent_p.H91H|NKX2-1_ENST00000498187.2_Silent_p.H61H|NKX2-1-AS1_ENST00000521292.2_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	61				H -> P (in Ref. 5; BAA23527/BAA23529). {ECO:0000305}.	anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGACGGCGCCGTGGTGCCCCA	0.746			A		NSCLC																																	uc001wtt.2		NA		Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				skin(1)	1						c.(181-183)CAC>CAT		thyroid transcription factor 1 isoform 2																																				SO:0001819	synonymous_variant	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36988380G>A		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.183C>T	14.37:g.36988380G>A						SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.H91H|NKX2-1_uc001wtv.2_Silent_p.H61H|uc001wtw.1_5'Flank	p.H61H	NM_003317	NP_003308	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	1	524	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		61	H -> P (in Ref. 5; BAA23527/BAA23529).				D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	ENST00000518149.1	37	c.183C>T	CCDS9659.1																																																																																				0.746	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		11	7	0	0	0	0	11	7				
FANCM	57697	broad.mit.edu	37	14	45605509	45605509	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:45605509G>C	ENST00000267430.5	+	1	360	c.275G>C	c.(274-276)cGg>cCg	p.R92P	FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000556036.1_Missense_Mutation_p.R92P|FANCM_ENST00000542564.2_Missense_Mutation_p.R92P|FKBP3_ENST00000396062.3_5'Flank	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	92					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCCCAGTGCGGGACTACCAG	0.597								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NA																	0				ovary(3)|lung(2)|breast(2)	7						c.(274-276)CGG>CCG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							78.0	81.0	80.0					14																	45605509		2203	4300	6503	SO:0001583	missense	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605509G>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.275G>C	14.37:g.45605509G>C	ENSP00000267430:p.Arg92Pro					FANCM_uc001wwc.2_Missense_Mutation_p.R92P|FANCM_uc010anf.2_Missense_Mutation_p.R92P|FKBP3_uc010tqf.1_5'Flank	p.R92P	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			1	374	+			92					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.275G>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260406	0.95368	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.51817	0.94;0.69;0.95	5.65	5.65	0.86999	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	H	0.98701	4.305	0.53688	D	0.99997	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.998	D	0.89190	0.3550	10	0.87932	D	0	.	17.2295	0.86981	0.0:0.0:1.0:0.0	.	92;92;92	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	P	92	ENSP00000450596:R92P;ENSP00000267430:R92P;ENSP00000442493:R92P	ENSP00000267430:R92P	R	+	2	0	FANCM	44675259	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	9.277000	0.95755	2.662000	0.90505	0.563000	0.77884	CGG		0.597	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		13	53	0	0	0	0	13	53				
MGAT2	4247	broad.mit.edu	37	14	50088061	50088061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:50088061G>A	ENST00000305386.2	+	1	573	c.75G>A	c.(73-75)tgG>tgA	p.W25*	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	25					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCGTCCTCTGGAGCAGCAATG	0.692																																						uc001wwr.2		NA																	0					0						c.(73-75)TGG>TGA		mannosyl (alpha-1,6-)-glycoprotein							17.0	20.0	19.0					14																	50088061		2202	4294	6496	SO:0001587	stop_gained	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088061G>A	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.75G>A	14.37:g.50088061G>A	ENSP00000307423:p.Trp25*					SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	p.W25*	NM_002408	NP_002399	Q10469	MGAT2_HUMAN			1	573	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		25			Helical; Signal-anchor for type II membrane protein; (Potential).		B3KPC5|B3KQM0	Nonsense_Mutation	SNP	ENST00000305386.2	37	c.75G>A	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	G	40	8.036548	0.98621	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	.	.	.	5.88	5.88	0.94601	.	0.061327	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4379	13.0801	0.59109	0.0768:0.0:0.9232:0.0	.	.	.	.	X	25;31	.	ENSP00000307423:W25X	W	+	3	0	MGAT2	49157811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.504000	0.90512	2.801000	0.96364	0.650000	0.86243	TGG		0.692	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		5	25	0	0	0	0	5	25				
PYGL	5836	broad.mit.edu	37	14	51375033	51375033	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:51375033C>A	ENST00000216392.7	-	19	2667	c.2335G>T	c.(2335-2337)Gaa>Taa	p.E779*	PYGL_ENST00000544180.2_Nonsense_Mutation_p.E745*|PYGL_ENST00000532462.1_Nonsense_Mutation_p.E779*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	779					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	ACATAGGCTTCGTAGTCTGCA	0.303																																						uc001wyu.2		NA																	0				skin(1)	1						c.(2335-2337)GAA>TAA		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						76.0	77.0	77.0					14																	51375033		2203	4298	6501	SO:0001587	stop_gained	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51375033C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2335G>T	14.37:g.51375033C>A	ENSP00000216392:p.Glu779*					PYGL_uc010tqq.1_Nonsense_Mutation_p.E745*|PYGL_uc001wyv.2_Nonsense_Mutation_p.E453*|PYGL_uc001wyt.2_RNA	p.E779*	NM_002863	NP_002854	P06737	PYGL_HUMAN			19	2462	-	all_epithelial(31;0.00825)|Breast(41;0.148)		779					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Nonsense_Mutation	SNP	ENST00000216392.7	37	c.2335G>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	43	10.041463	0.99324	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-24.3691	18.9047	0.92455	0.0:1.0:0.0:0.0	.	.	.	.	X	779;745;779	.	ENSP00000216392:E779X	E	-	1	0	PYGL	50444783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.774000	0.85478	2.814000	0.96858	0.655000	0.94253	GAA		0.303	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		14	41	1	0	2.32e-05	4.17e-05	14	41				
PYGL	5836	broad.mit.edu	37	14	51390809	51390809	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:51390809C>G	ENST00000216392.7	-	5	870	c.538G>C	c.(538-540)Gca>Cca	p.A180P	PYGL_ENST00000532462.1_Missense_Mutation_p.A180P|PYGL_ENST00000544180.2_Missense_Mutation_p.A146P	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	180					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CAATCATCTGCTTCTTCTACC	0.383																																						uc001wyu.2		NA																	0				skin(1)	1						c.(538-540)GCA>CCA		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						117.0	113.0	114.0					14																	51390809		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51390809C>G		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.538G>C	14.37:g.51390809C>G	ENSP00000216392:p.Ala180Pro					PYGL_uc010tqq.1_Missense_Mutation_p.A146P|PYGL_uc001wyv.2_5'UTR|PYGL_uc010anz.1_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.A180P	p.A180P	NM_002863	NP_002854	P06737	PYGL_HUMAN			5	665	-	all_epithelial(31;0.00825)|Breast(41;0.148)		180					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.538G>C	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580342	0.28180	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.91631	-2.88;-2.88;-2.88	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	N	0.00765	-1.205	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.20577	0.03;0.003;0.015	T	0.75833	-0.3178	10	0.02654	T	1	-10.8383	19.6516	0.95815	0.0:1.0:0.0:0.0	.	146;202;180	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	P	180;146;180	ENSP00000431657:A180P;ENSP00000443787:A146P;ENSP00000216392:A180P	ENSP00000216392:A180P	A	-	1	0	PYGL	50460559	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GCA		0.383	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		8	50	0	0	0	0	8	50				
BMP4	652	broad.mit.edu	37	14	54417231	54417231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:54417231C>G	ENST00000245451.4	-	4	1139	c.746G>C	c.(745-747)gGc>gCc	p.G249A	BMP4_ENST00000559087.1_Missense_Mutation_p.G249A|BMP4_ENST00000417573.1_Missense_Mutation_p.G249A|BMP4_ENST00000558984.1_Missense_Mutation_p.G249A|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	249					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GACATGCTGGCCCTGGTGGGT	0.617																																						uc001xal.3		NA																	0					0						c.(745-747)GGC>GCC		bone morphogenetic protein 4 preproprotein							87.0	72.0	77.0					14																	54417231		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417231C>G	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.746G>C	14.37:g.54417231C>G	ENSP00000245451:p.Gly249Ala					BMP4_uc010aoh.2_Missense_Mutation_p.G249A|BMP4_uc001xao.3_Missense_Mutation_p.G249A|BMP4_uc001xan.3_Missense_Mutation_p.G249A	p.G249A	NM_130851	NP_570912	P12644	BMP4_HUMAN			3	933	-			249					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.746G>C	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825956	0.32237	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.65549	-0.16;-0.16	5.43	5.43	0.79202	Transforming growth factor-beta, N-terminal (1);	0.198562	0.52532	D	0.000063	T	0.63581	0.2523	L	0.41961	1.31	0.80722	D	1	B	0.20052	0.041	B	0.38880	0.284	T	0.55786	-0.8086	10	0.21014	T	0.42	.	18.397	0.90502	0.0:1.0:0.0:0.0	.	249	P12644	BMP4_HUMAN	A	249	ENSP00000245451:G249A;ENSP00000394165:G249A	ENSP00000245451:G249A	G	-	2	0	BMP4	53486981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.885000	0.56182	2.825000	0.97269	0.655000	0.94253	GGC		0.617	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		23	67	0	0	0	0	23	67				
L3HYPDH	112849	broad.mit.edu	37	14	59946014	59946014	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:59946014G>A	ENST00000247194.4	-	2	677	c.564C>T	c.(562-564)ggC>ggT	p.G188G	L3HYPDH_ENST00000487285.1_Silent_p.G17G|RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	188					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	AAAATGCACCGCCATATGCAA	0.423																																						uc001xee.1		NA																	0				ovary(1)	1						c.(562-564)GGC>GGT		proline racemase-like	L-Proline(DB00172)						89.0	83.0	85.0					14																	59946014		2203	4300	6503	SO:0001819	synonymous_variant	112849						proline racemase activity	g.chr14:59946014G>A	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.564C>T	14.37:g.59946014G>A						C14orf149_uc010trx.1_3'UTR	p.G188G	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.14)	2	603	-			188					Q96LJ5	Silent	SNP	ENST00000247194.4	37	c.564C>T	CCDS9739.1																																																																																				0.423	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		12	47	0	0	0	0	12	47				
KCNH5	27133	broad.mit.edu	37	14	63511873	63511873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:63511873G>A	ENST00000322893.7	-	1	300	c.32C>T	c.(31-33)cCg>cTg	p.P11L	KCNH5_ENST00000420622.2_Missense_Mutation_p.P11L|KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	11					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTGTTCTGCGGTGCCACCAG	0.647																																						uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(31-33)CCG>CTG		potassium voltage-gated channel, subfamily H,							80.0	66.0	71.0					14																	63511873		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63511873G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.32C>T	14.37:g.63511873G>A	ENSP00000321427:p.Pro11Leu					KCNH5_uc001xfy.2_Missense_Mutation_p.P11L|KCNH5_uc001xfz.1_Intron|KCNH5_uc001xga.2_Intron	p.P11L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	1	83	-			11			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.32C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852775	0.91355	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.99089	-5.41;-5.17	5.23	5.23	0.72850	.	0.107193	0.64402	D	0.000004	D	0.99205	0.9724	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.97110	1.0;0.779	D	0.99425	1.0934	10	0.62326	D	0.03	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	11;11	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	L	11	ENSP00000321427:P11L;ENSP00000395439:P11L	ENSP00000321427:P11L	P	-	2	0	KCNH5	62581626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.118000	0.89577	2.611000	0.88343	0.563000	0.77884	CCG		0.647	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		7	61	0	0	0	0	7	61				
PPP2R5E	5529	broad.mit.edu	37	14	64006301	64006301	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:64006301G>C	ENST00000337537.3	-	2	705	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.Q35E|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	35					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GACCTAAACTGTGAGGAACTT	0.463																																						uc001xgd.1		NA																	0				ovary(1)	1						c.(103-105)CAG>GAG		epsilon isoform of regulatory subunit B56,							186.0	156.0	166.0					14																	64006301		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:64006301G>C	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.103C>G	14.37:g.64006301G>C	ENSP00000337641:p.Gln35Glu					PPP2R5E_uc001xge.2_Missense_Mutation_p.Q35E|PPP2R5E_uc010tsh.1_Missense_Mutation_p.Q35E|PPP2R5E_uc001xgf.1_RNA|PPP2R5E_uc001xgg.3_Missense_Mutation_p.Q35E	p.Q35E	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	2	693	-			35					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.103C>G	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216489	0.79352	.	.	ENSG00000154001	ENST00000337537;ENST00000555899	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.29908	0.895	0.80722	D	1	P;P;P	0.42296	0.775;0.775;0.775	B;B;B	0.42995	0.404;0.404;0.404	T	0.59080	-0.7521	9	0.72032	D	0.01	-5.4685	19.325	0.94258	0.0:0.0:1.0:0.0	.	35;35;35	B7ZKK9;B7Z5X1;Q16537	.;.;2A5E_HUMAN	E	35	.	ENSP00000337641:Q35E	Q	-	1	0	PPP2R5E	63076054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.201000	0.95017	2.543000	0.85770	0.655000	0.94253	CAG		0.463	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		7	72	0	0	0	0	7	72				
PPP1R36	145376	broad.mit.edu	37	14	65041172	65041172	+	Splice_Site	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:65041172G>C	ENST00000298705.1	+	8	629		c.e8-1		RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36						negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CTCCCCATCAGAGGCCTTGTA	0.363																																						uc001xhl.1		NA																	0				skin(1)	1						c.e8-1		hypothetical protein LOC145376							64.0	67.0	66.0					14																	65041172		2203	4300	6503	SO:0001630	splice_region_variant	145376							g.chr14:65041172G>C		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.534-1G>C	14.37:g.65041172G>C							p.V178_splice	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	8	630	+								Q6NTH6	Splice_Site	SNP	ENST00000298705.1	37	c.534_splice	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722316	0.30503	.	.	ENSG00000165807	ENST00000298705	.	.	.	6.04	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7911	0.57534	0.0:0.0:0.8365:0.1635	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf50	64110925	1.000000	0.71417	0.781000	0.31783	0.327000	0.28475	5.131000	0.64751	1.551000	0.49450	0.561000	0.74099	.		0.363	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1	NM_172365	Intron	7	48	0	0	0	0	7	48				
SPTB	6710	broad.mit.edu	37	14	65261194	65261194	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:65261194C>T	ENST00000389721.5	-	12	1818	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	SPTB_ENST00000389722.3_Missense_Mutation_p.E596K|SPTB_ENST00000389720.3_Missense_Mutation_p.E596K|SPTB_ENST00000542895.1_Missense_Mutation_p.E596K|SPTB_ENST00000556626.1_Missense_Mutation_p.E596K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	596					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTTCCCCTCGGTGAACTTC	0.532																																						uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(1786-1788)GAG>AAG		spectrin beta isoform b							219.0	204.0	209.0					14																	65261194		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65261194C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1786G>A	14.37:g.65261194C>T	ENSP00000374371:p.Glu596Lys					SPTB_uc001xhr.2_Missense_Mutation_p.E596K|SPTB_uc001xhs.2_Missense_Mutation_p.E596K|SPTB_uc001xhu.2_Missense_Mutation_p.E596K	p.E596K	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	12	1840	-		all_lung(585;4.15e-09)	596			Spectrin 3.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.1786G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878896	0.51801	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.72	4.82	0.62117	.	0.183771	0.49916	D	0.000121	T	0.35770	0.0943	L	0.29908	0.895	0.26535	N	0.9742	B;B	0.28713	0.22;0.096	B;B	0.29862	0.108;0.047	T	0.33624	-0.9861	10	0.62326	D	0.03	.	10.3096	0.43702	0.0:0.8583:0.0:0.1417	.	596;600	P11277;Q59FP5	SPTB1_HUMAN;.	K	600;596;596;596;596;596	ENSP00000374372:E596K;ENSP00000451752:E596K;ENSP00000374371:E596K;ENSP00000443882:E596K;ENSP00000374370:E596K	ENSP00000374370:E596K	E	-	1	0	SPTB	64330947	0.312000	0.24545	0.994000	0.49952	0.635000	0.38103	1.773000	0.38563	2.857000	0.98124	0.650000	0.86243	GAG		0.532	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			17	154	0	0	0	0	17	154				
PCNX	22990	broad.mit.edu	37	14	71495434	71495434	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:71495434G>C	ENST00000304743.2	+	16	3930	c.3484G>C	c.(3484-3486)Gca>Cca	p.A1162P	PCNX_ENST00000238570.5_Missense_Mutation_p.A1162P|PCNX_ENST00000439984.3_Missense_Mutation_p.A1051P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1162						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGCCTGCTTGCAGCACTTTA	0.308																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(3484-3486)GCA>CCA		pecanex-like 1							122.0	111.0	115.0					14																	71495434		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71495434G>C	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3484G>C	14.37:g.71495434G>C	ENSP00000304192:p.Ala1162Pro					PCNX_uc010are.1_Missense_Mutation_p.A1051P|PCNX_uc010arf.1_Missense_Mutation_p.A22P	p.A1162P	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	16	3930	+			1162			Helical; (Potential).		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3484G>C	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.560433|3.560433	0.65538|0.65538	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|T	0.10860|0.19669	3.28;3.28;2.83|2.13	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.057145|.	0.64402|.	D|.	0.000001|.	T|T	0.36331|0.36331	0.0963|0.0963	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999997|0.999997	P;D;D|.	0.63880|.	0.95;0.979;0.993|.	P;P;P|.	0.57620|.	0.698;0.824;0.796|.	T|T	0.00931|0.00931	-1.1510|-1.1510	10|6	0.56958|.	D|.	0.05|.	.|.	19.2986|19.2986	0.94134|0.94134	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1162;1051;1162|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	P|F	1162;1162;1051|220	ENSP00000304192:A1162P;ENSP00000238570:A1162P;ENSP00000396617:A1051P|ENSP00000451016:L220F	ENSP00000238570:A1162P|.	A|L	+|+	1|3	0|2	PCNX|PCNX	70565187|70565187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.406000|0.406000	0.30931|0.30931	6.605000|6.605000	0.74155|0.74155	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GCA|TTG		0.308	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		44	46	0	0	0	0	44	46				
ABCD4	5826	broad.mit.edu	37	14	74759945	74759945	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:74759945C>A	ENST00000356924.4	-	8	869	c.726G>T	c.(724-726)ggG>ggT	p.G242G	ABCD4_ENST00000298816.7_Silent_p.G138G|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_Intron|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	242	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCTCCACATGCCCAGCTCTGA	0.597																																						uc001xpr.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(724-726)GGG>GGT		ATP-binding cassette, sub-family D, member 4							78.0	68.0	71.0					14																	74759945		2203	4300	6503	SO:0001819	synonymous_variant	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74759945C>A	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.726G>T	14.37:g.74759945C>A						ABCD4_uc001xps.2_Silent_p.G83G|ABCD4_uc001xpt.2_Silent_p.G83G|ABCD4_uc010tur.1_Silent_p.G138G|ABCD4_uc001xpu.2_Intron|ABCD4_uc001xpv.2_Intron	p.G242G	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	8	878	-			242			ABC transmembrane type-1.		A8K5L7|Q6IAQ0|Q96E75	Silent	SNP	ENST00000356924.4	37	c.726G>T	CCDS9828.1																																																																																				0.597	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		14	72	1	0	2.32e-09	4.55e-09	14	72				
YLPM1	56252	broad.mit.edu	37	14	75248679	75248679	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75248679C>A	ENST00000552421.1	+	4	2057	c.1933C>A	c.(1933-1935)Cag>Aag	p.Q645K	YLPM1_ENST00000325680.7_Missense_Mutation_p.Q645K|YLPM1_ENST00000238571.3_Missense_Mutation_p.Q450K			P49750	YLPM1_HUMAN	YLP motif containing 1	450					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATACCTCCTCAGTTAACAGC	0.547																																						uc001xqj.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1933-1935)CAG>AAG		YLP motif containing 1							82.0	85.0	84.0					14																	75248679		2002	4172	6174	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248679C>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1933C>A	14.37:g.75248679C>A	ENSP00000447921:p.Gln645Lys					YLPM1_uc001xql.3_RNA	p.Q645K	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	2057	+			450					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.1933C>A		.	.	.	.	.	.	.	.	.	.	C	14.91	2.676163	0.47886	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.55	5.55	0.83447	.	0.554792	0.17884	N	0.158771	T	0.31888	0.0811	L	0.29908	0.895	0.31645	N	0.647547	B	0.22211	0.066	B	0.23419	0.046	T	0.23476	-1.0187	9	0.06625	T	0.88	0.0454	10.4254	0.44375	0.0:0.8863:0.0:0.1137	.	645	P49750-4	.	K	645;645;450;358	.	ENSP00000238571:Q450K	Q	+	1	0	YLPM1	74318432	0.997000	0.39634	0.999000	0.59377	0.995000	0.86356	2.632000	0.46511	2.894000	0.99253	0.591000	0.81541	CAG		0.547	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		16	48	1	0	1.36e-06	2.54e-06	16	48				
YLPM1	56252	broad.mit.edu	37	14	75248700	75248700	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75248700C>T	ENST00000552421.1	+	4	2078	c.1954C>T	c.(1954-1956)Cca>Tca	p.P652S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P652S|YLPM1_ENST00000238571.3_Missense_Mutation_p.P457S			P49750	YLPM1_HUMAN	YLP motif containing 1	457					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCCCCAGTTCCACCAGCCTC	0.547																																						uc001xqj.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1954-1956)CCA>TCA		YLP motif containing 1							80.0	83.0	82.0					14																	75248700		2010	4182	6192	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248700C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1954C>T	14.37:g.75248700C>T	ENSP00000447921:p.Pro652Ser					YLPM1_uc001xql.3_RNA	p.P652S	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	2078	+			457					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.1954C>T		.	.	.	.	.	.	.	.	.	.	C	14.26	2.482201	0.44147	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000003	T	0.45155	0.1328	L	0.32530	0.975	0.42943	D	0.994356	B	0.26744	0.158	B	0.23275	0.045	T	0.39292	-0.9621	9	0.45353	T	0.12	-2.6887	10.5393	0.45024	0.1328:0.7994:0.0:0.0678	.	652	P49750-4	.	S	652;652;457;365	.	ENSP00000238571:P457S	P	+	1	0	YLPM1	74318453	0.860000	0.29831	1.000000	0.80357	0.997000	0.91878	1.864000	0.39469	2.894000	0.99253	0.591000	0.81541	CCA		0.547	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		15	47	0	0	0	0	15	47				
EIF2B2	8892	broad.mit.edu	37	14	75473335	75473335	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:75473335G>C	ENST00000266126.5	+	6	829	c.749G>C	c.(748-750)gGa>gCa	p.G250A	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	250					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GCTGTGACAGGAACTCACACT	0.527																																						uc001xrc.1		NA																	0				ovary(1)	1						c.(748-750)GGA>GCA		eukaryotic translation initiation factor 2B,							290.0	245.0	260.0					14																	75473335		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75473335G>C		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.749G>C	14.37:g.75473335G>C	ENSP00000266126:p.Gly250Ala						p.G250A	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	6	831	+			250					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.749G>C	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307338	0.95629	.	.	ENSG00000119718	ENST00000266126;ENST00000554748	D	0.99882	-7.48	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	M	0.91561	3.22	0.80722	D	1	D	0.61697	0.99	D	0.77004	0.989	D	0.96531	0.9393	10	0.87932	D	0	-19.3582	20.3081	0.98638	0.0:0.0:1.0:0.0	.	250	P49770	EI2BB_HUMAN	A	250;38	ENSP00000266126:G250A	ENSP00000266126:G250A	G	+	2	0	EIF2B2	74543088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.795000	0.96236	0.655000	0.94253	GGA		0.527	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		35	202	0	0	0	0	35	202				
DYNC1H1	1778	broad.mit.edu	37	14	102500686	102500686	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr14:102500686G>C	ENST00000360184.4	+	56	10815	c.10651G>C	c.(10651-10653)Gaa>Caa	p.E3551Q	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3551					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCAGGACGGAATACCTTTC	0.502																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10651-10653)GAA>CAA		cytoplasmic dynein 1 heavy chain 1							123.0	98.0	107.0					14																	102500686		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102500686G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10651G>C	14.37:g.102500686G>C	ENSP00000348965:p.Glu3551Gln						p.E3551Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			56	10815	+			3551					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10651G>C	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.364929|5.364929	0.95877|0.95877	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.66638|.	-0.22|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76948|0.76948	0.4059|0.4059	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.69142|.	0.962|.	T|T	0.76462|0.76462	-0.2950|-0.2950	10|5	0.46703|.	T|.	0.11|.	.|.	19.0222|19.0222	0.92920|0.92920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3551|.	Q14204|.	DYHC1_HUMAN|.	Q|A	3551|26	ENSP00000348965:E3551Q|.	ENSP00000348965:E3551Q|.	E|G	+|+	1|2	0|0	DYNC1H1|DYNC1H1	101570439|101570439	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.939000|0.939000	0.58152|0.58152	9.755000|9.755000	0.98912|0.98912	2.585000|2.585000	0.87301|0.87301	0.591000|0.591000	0.81541|0.81541	GAA|GGA		0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	68	0	0	0	0	6	68				
NPAP1	23742	broad.mit.edu	37	15	24923661	24923661	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:24923661C>A	ENST00000329468.2	+	1	3121	c.2647C>A	c.(2647-2649)Cca>Aca	p.P883T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	883					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGATAGGAGACCAACCACAAC	0.483																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2647-2649)CCA>ACA		hypothetical protein LOC23742							115.0	116.0	116.0					15																	24923661		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923661C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2647C>A	15.37:g.24923661C>A	ENSP00000333735:p.Pro883Thr						p.P883T	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3121	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	883						Missense_Mutation	SNP	ENST00000329468.2	37	c.2647C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	7.781	0.709550	0.15239	.	.	ENSG00000185823	ENST00000329468	T	0.06449	3.3	1.35	-1.17	0.09648	.	.	.	.	.	T	0.02610	0.0079	N	0.22421	0.69	0.09310	N	1	P	0.41041	0.736	B	0.25405	0.06	T	0.40496	-0.9560	9	0.42905	T	0.14	.	2.0254	0.03518	0.3053:0.4726:0.0:0.2221	.	883	Q9NZP6	CO002_HUMAN	T	883	ENSP00000333735:P883T	ENSP00000333735:P883T	P	+	1	0	C15orf2	22474754	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.619000	0.24388	-0.314000	0.08716	0.205000	0.17691	CCA		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		16	122	1	0	6.32e-08	1.21e-07	16	122				
ATP10A	57194	broad.mit.edu	37	15	25953204	25953204	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:25953204C>G	ENST00000356865.6	-	12	2605	c.2494G>C	c.(2494-2496)Gaa>Caa	p.E832Q		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	832					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)		GATTCGGCTTCTAGGTGGCTT	0.537																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(2494-2496)GAA>CAA		ATPase, class V, type 10A							80.0	74.0	76.0					15																	25953204		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.chr15:25953204C>G	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.2494G>C	15.37:g.25953204C>G	ENSP00000349325:p.Glu832Gln						p.E832Q	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)	12	2600	-		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)	832			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2494G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	9.904	1.207608	0.22205	.	.	ENSG00000206190	ENST00000356865	D	0.82803	-1.65	4.68	4.68	0.58851	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.156125	0.56097	D	0.000026	T	0.74291	0.3697	L	0.33668	1.02	0.51233	D	0.999912	P	0.38250	0.624	B	0.36378	0.223	T	0.74390	-0.3681	10	0.33940	T	0.23	-24.4605	13.6921	0.62553	0.0:0.8454:0.1546:0.0	.	832	O60312	AT10A_HUMAN	Q	832	ENSP00000349325:E832Q	ENSP00000349325:E832Q	E	-	1	0	ATP10A	23504297	0.997000	0.39634	0.365000	0.25901	0.397000	0.30659	3.474000	0.53129	2.311000	0.77944	0.655000	0.94253	GAA		0.537	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		9	48	0	0	0	0	9	48				
ARHGAP11A	9824	broad.mit.edu	37	15	32929051	32929051	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:32929051A>T	ENST00000361627.3	+	12	2799	c.2077A>T	c.(2077-2079)Act>Tct	p.T693S	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T504S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T504S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	693					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(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATGTTATTCAACTCAGATGAA	0.318																																					Colon(45;757 1134 30003 36652)	uc001zgy.1		NA																	0				skin(3)|breast(2)|urinary_tract(1)	6						c.(2077-2079)ACT>TCT		Rho GTPase activating protein 11A isoform 1							26.0	29.0	28.0					15																	32929051		2192	4281	6473	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929051A>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2077A>T	15.37:g.32929051A>T	ENSP00000355090:p.Thr693Ser					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.T504S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.T504S	p.T693S	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2799	+		all_lung(180;1.3e-11)	693					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2077A>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	2.017	-0.425586	0.04701	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.10005	2.92	5.27	-3.83	0.04269	.	0.731670	0.12673	N	0.448635	T	0.07999	0.0200	L	0.55481	1.735	0.09310	N	1	B	0.26318	0.146	B	0.24974	0.057	T	0.46652	-0.9176	10	0.06099	T	0.92	.	10.0633	0.42288	0.2876:0.1973:0.5151:0.0	.	693	Q6P4F7	RHGBA_HUMAN	S	693;504	ENSP00000355090:T693S	ENSP00000355090:T693S	T	+	1	0	ARHGAP11A	30716343	0.000000	0.05858	0.574000	0.28523	0.168000	0.22595	-0.287000	0.08388	-0.304000	0.08843	-0.263000	0.10527	ACT		0.318	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		4	24	0	0	0	0	4	24				
DUOXA2	405753	broad.mit.edu	37	15	45409770	45409770	+	Intron	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:45409770G>C	ENST00000323030.5	+	6	1054				DUOXA1_ENST00000430224.2_Missense_Mutation_p.F420L|DUOXA1_ENST00000267803.4_Missense_Mutation_p.F465L|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.F465L	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		AAAGATGGAAGAAGGCCCGGG	0.562																																						uc001zup.2		NA																	0				ovary(1)	1						c.(1393-1395)TTC>TTG		Numb-interacting protein							41.0	42.0	41.0					15																	45409770		2198	4293	6491	SO:0001627	intron_variant	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45409770G>C	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.770-144G>C	15.37:g.45409770G>C						DUOXA2_uc001zuo.2_Intron|DUOXA2_uc010beb.2_Intron|DUOXA1_uc010uem.1_Missense_Mutation_p.F420L|DUOXA1_uc010bec.2_Missense_Mutation_p.F465L	p.F465L	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	11	1795	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	Error:Variant_position_missing_in_Q1HG43_after_alignment					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.1395C>G	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	5.788	0.329750	0.10956	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.58940	0.73;0.3	2.15	1.18	0.20946	.	.	.	.	.	T	0.30885	0.0779	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23868	-1.0176	9	0.87932	D	0	.	6.1034	0.20059	0.0:0.0:0.7013:0.2987	.	420;465	B5M0C0;A8K9Q6	.;.	L	465;420	ENSP00000267803:F465L;ENSP00000415512:F420L	ENSP00000267803:F465L	F	-	3	2	DUOXA1	43197062	0.005000	0.15991	0.002000	0.10522	0.008000	0.06430	0.310000	0.19356	0.440000	0.26502	0.462000	0.41574	TTC		0.562	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		4	7	0	0	0	0	4	7				
GALK2	2585	broad.mit.edu	37	15	49584728	49584728	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:49584728C>G	ENST00000560031.1	+	8	1268	c.961C>G	c.(961-963)Caa>Gaa	p.Q321E	GALK2_ENST00000559454.1_Missense_Mutation_p.Q297E|GALK2_ENST00000543495.1_Missense_Mutation_p.Q192E|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.Q297E|GALK2_ENST00000396509.2_Missense_Mutation_p.Q297E|GALK2_ENST00000327171.3_Missense_Mutation_p.Q310E			Q01415	GALK2_HUMAN	galactokinase 2	321					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TCCAAACACTCAAGATGGTGA	0.458																																						uc001zxj.1		NA																	0				breast(1)	1						c.(961-963)CAA>GAA		galactokinase 2 isoform 1							67.0	63.0	65.0					15																	49584728		2196	4295	6491	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49584728C>G		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.961C>G	15.37:g.49584728C>G	ENSP00000453129:p.Gln321Glu					GALK2_uc001zxi.1_Missense_Mutation_p.Q310E|GALK2_uc010ufb.1_Missense_Mutation_p.Q297E|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.Q297E	p.Q321E	NM_002044	NP_002035	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	8	1059	+		all_lung(180;0.000325)	321					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.961C>G	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844502	0.32606	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000543495;ENST00000544523	D;T;D	0.85088	-1.94;-0.49;-1.93	5.45	5.45	0.79879	.	0.099841	0.64402	D	0.000001	D	0.82733	0.5101	M	0.66939	2.045	0.80722	D	1	B;B	0.18461	0.007;0.028	B;B	0.12156	0.002;0.007	T	0.78157	-0.2313	10	0.05833	T	0.94	-19.4016	19.2951	0.94118	0.0:1.0:0.0:0.0	.	321;310	Q01415;Q7Z4Q4	GALK2_HUMAN;.	E	310;321;192;297	ENSP00000316632:Q310E;ENSP00000443220:Q192E;ENSP00000440312:Q297E	ENSP00000316632:Q310E	Q	+	1	0	GALK2	47372020	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.648000	0.67930	2.559000	0.86315	0.591000	0.81541	CAA		0.458	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			6	32	0	0	0	0	6	32				
SLTM	79811	broad.mit.edu	37	15	59209166	59209166	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:59209166C>G	ENST00000380516.2	-	3	370	c.283G>C	c.(283-285)Gat>Cat	p.D95H	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	95					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAGAAGCATCTCCACTCAAC	0.323																																						uc002afp.2		NA																	0				ovary(1)	1						c.(283-285)GAT>CAT		modulator of estrogen induced transcription							116.0	104.0	108.0					15																	59209166		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59209166C>G	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.283G>C	15.37:g.59209166C>G	ENSP00000369887:p.Asp95His					SLTM_uc002afo.2_Missense_Mutation_p.D95H|SLTM_uc002afq.2_5'UTR|SLTM_uc010bgd.2_5'UTR|SLTM_uc002afr.1_Missense_Mutation_p.D95H	p.D95H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			3	371	-			95					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.283G>C	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940586	0.73557	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	T;T	0.20332	2.08;2.1	6.03	5.09	0.68999	.	0.111048	0.39544	N	0.001340	T	0.28797	0.0714	M	0.62723	1.935	0.80722	D	1	P;P	0.44877	0.845;0.845	B;B	0.44278	0.445;0.445	T	0.03483	-1.1032	10	0.49607	T	0.09	.	14.3162	0.66452	0.1494:0.8506:0.0:0.0	.	95;95	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	H	95	ENSP00000369887:D95H;ENSP00000249736:D95H	ENSP00000249736:D95H	D	-	1	0	SLTM	56996458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.139000	0.50577	1.506000	0.48736	0.655000	0.94253	GAT		0.323	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		3	19	0	0	0	0	3	19				
CILP	8483	broad.mit.edu	37	15	65497636	65497636	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:65497636T>A	ENST00000261883.4	-	5	759	c.593A>T	c.(592-594)cAg>cTg	p.Q198L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	198	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTACAGTCCTGGCCCATGCA	0.592																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(592-594)CAG>CTG		cartilage intermediate layer protein							105.0	88.0	94.0					15																	65497636		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65497636T>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.593A>T	15.37:g.65497636T>A	ENSP00000261883:p.Gln198Leu						p.Q198L	NM_003613	NP_003604	O75339	CILP1_HUMAN			5	774	-			198			TSP type-1.		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.593A>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	T	6.280	0.419801	0.11928	.	.	ENSG00000138615	ENST00000261883	T	0.55760	0.5	5.56	0.162	0.14981	.	0.193087	0.49305	D	0.000149	T	0.40297	0.1111	L	0.52905	1.665	0.27638	N	0.947805	B	0.24317	0.101	B	0.26770	0.073	T	0.31475	-0.9942	10	0.12103	T	0.63	-6.3557	8.4067	0.32619	0.0:0.0672:0.3765:0.5563	.	198	O75339	CILP1_HUMAN	L	198	ENSP00000261883:Q198L	ENSP00000261883:Q198L	Q	-	2	0	CILP	63284689	0.982000	0.34865	0.229000	0.23960	0.138000	0.21146	0.566000	0.23593	0.060000	0.16281	-0.321000	0.08615	CAG		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		19	96	0	0	0	0	19	96				
CSPG4	1464	broad.mit.edu	37	15	75977614	75977614	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:75977614C>T	ENST00000308508.5	-	4	4310	c.4218G>A	c.(4216-4218)ctG>ctA	p.L1406L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1406	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						CCTCCTTCTGCAGGGCTCCAT	0.672																																						uc002baw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(4216-4218)CTG>CTA		chondroitin sulfate proteoglycan 4 precursor							33.0	37.0	36.0					15																	75977614		2196	4287	6483	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.chr15:75977614C>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.4218G>A	15.37:g.75977614C>T							p.L1406L	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			4	4311	-			1406			CSPG 9.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.4218G>A	CCDS10284.1																																																																																				0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	56	0	0	0	0	5	56				
RASGRF1	5923	broad.mit.edu	37	15	79320138	79320138	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:79320138C>A	ENST00000419573.3	-	9	1600	c.1326G>T	c.(1324-1326)atG>atT	p.M442I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.M442I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	442					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTCGATGATCATGCGCTCGA	0.562																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(1324-1326)ATG>ATT		Ras protein-specific guanine							233.0	189.0	204.0					15																	79320138		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79320138C>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1326G>T	15.37:g.79320138C>A	ENSP00000405963:p.Met442Ile					RASGRF1_uc002bep.2_Missense_Mutation_p.M442I|RASGRF1_uc010blm.1_Missense_Mutation_p.M364I|RASGRF1_uc002ber.3_Missense_Mutation_p.M442I	p.M442I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			9	1701	-			442					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1326G>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532797	0.85812	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.67345	-0.26	4.09	4.09	0.47781	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.81239	2.535	0.80722	D	1	P;P;P;D	0.54964	0.948;0.948;0.948;0.969	P;P;P;P	0.57101	0.655;0.722;0.655;0.813	T	0.80056	-0.1542	10	0.45353	T	0.12	.	13.9228	0.63942	0.0:1.0:0.0:0.0	.	442;442;442;442	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	I	442	ENSP00000405963:M442I	ENSP00000378224:M442I	M	-	3	0	RASGRF1	77107193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.704000	0.68347	2.118000	0.64928	0.479000	0.44913	ATG		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		6	102	1	0	2.01e-06	3.72e-06	6	102				
ABHD17C	58489	broad.mit.edu	37	15	81041863	81041863	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:81041863G>T	ENST00000258884.4	+	2	727	c.600G>T	c.(598-600)gtG>gtT	p.V200V	ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000560609.1_5'UTR|ABHD17C_ENST00000558464.1_Silent_p.V200V	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	200							hydrolase activity (GO:0016787)										GGTATGGCGTGAGTCCCGAGA	0.483																																						uc002bfu.2		NA																	0					0						c.(598-600)GTG>GTT		hypothetical protein LOC58489							124.0	118.0	120.0					15																	81041863		1938	4143	6081	SO:0001819	synonymous_variant	58489						hydrolase activity	g.chr15:81041863G>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.600G>T	15.37:g.81041863G>T						FAM108C1_uc002bft.2_Silent_p.V193V	p.V200V	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN			2	719	+			200					Q1RMD6|Q9NPM1	Silent	SNP	ENST00000258884.4	37	c.600G>T	CCDS45323.1																																																																																				0.483	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		8	70	1	0	3.1e-07	5.86e-07	8	70				
CEMIP	57214	broad.mit.edu	37	15	81225753	81225753	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:81225753C>G	ENST00000394685.3	+	23	3380	c.2961C>G	c.(2959-2961)atC>atG	p.I987M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.I987M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.I987M|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		987					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGACTGCATCAATGTTCCCG	0.572																																						uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2959-2961)ATC>ATG		KIAA1199 precursor							89.0	81.0	84.0					15																	81225753		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81225753C>G																												ENST00000394685.3:c.2961C>G	15.37:g.81225753C>G	ENSP00000378177:p.Ile987Met					KIAA1199_uc010unn.1_Missense_Mutation_p.I987M	p.I987M	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			22	3221	+			987					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2961C>G	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.283340	0.23392	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	D;D;D	0.82711	-1.64;-1.64;-1.64	4.41	3.49	0.39957	Pectin lyase fold/virulence factor (1);	0.131938	0.49305	D	0.000158	T	0.77725	0.4173	L	0.50333	1.59	0.20821	N	0.999847	P	0.42409	0.779	B	0.42555	0.391	T	0.69932	-0.5011	10	0.54805	T	0.06	-30.9372	7.1575	0.25645	0.0:0.6646:0.0:0.3354	.	987	Q8WUJ3	K1199_HUMAN	M	987	ENSP00000220244:I987M;ENSP00000378177:I987M;ENSP00000348583:I987M	ENSP00000220244:I987M	I	+	3	3	KIAA1199	79012808	0.628000	0.27138	0.785000	0.31869	0.358000	0.29455	-0.026000	0.12392	1.070000	0.40811	0.514000	0.50259	ATC		0.572	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			16	65	0	0	0	0	16	65				
ACAN	176	broad.mit.edu	37	15	89414699	89414699	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:89414699G>A	ENST00000561243.1	+	13	7033	c.7033G>A	c.(7033-7035)Gag>Aag	p.E2345K	ACAN_ENST00000559004.1_Missense_Mutation_p.E2307K|ACAN_ENST00000439576.2_Missense_Mutation_p.E2345K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2307K			P16112	PGCA_HUMAN	aggrecan	2230	G3.|Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTGGATGCTGAGCGCCGGTG	0.637																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(7033-7035)GAG>AAG		aggrecan isoform 2 precursor							48.0	58.0	55.0					15																	89414699		2134	4240	6374	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89414699G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7033G>A	15.37:g.89414699G>A	ENSP00000453342:p.Glu2345Lys					ACAN_uc010upp.1_Missense_Mutation_p.E2307K|ACAN_uc002bna.2_RNA	p.E2345K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		14	7407	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2345					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.7033G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693133	0.96793	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.17854	2.25;2.25	5.59	5.59	0.84812	.	0.000000	0.33057	N	0.005326	T	0.43322	0.1242	M	0.67397	2.05	0.47183	D	0.999341	D;D	0.89917	0.999;1.0	P;D	0.87578	0.881;0.998	T	0.26573	-1.0099	10	0.87932	D	0	-23.3276	18.5779	0.91162	0.0:0.0:1.0:0.0	.	2307;2345	E7ENV9;E7EX88	.;.	K	2345;2307;2231	ENSP00000387356:E2345K;ENSP00000341615:E2307K	ENSP00000268134:E2231K	E	+	1	0	ACAN	87215703	1.000000	0.71417	0.937000	0.37676	0.912000	0.54170	9.771000	0.98977	2.635000	0.89317	0.655000	0.94253	GAG		0.637	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	32	0	0	0	0	5	32				
ST8SIA2	8128	broad.mit.edu	37	15	92981809	92981809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:92981809C>T	ENST00000268164.3	+	4	754	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	ST8SIA2_ENST00000539113.1_Nonsense_Mutation_p.Q152*	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	173					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CGGCTGTGGGCAGGAGATTGA	0.602																																						uc002bra.2		NA																	0					0						c.(517-519)CAG>TAG		ST8 alpha-N-acetyl-neuraminide							46.0	40.0	42.0					15																	92981809		2198	4298	6496	SO:0001587	stop_gained	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981809C>T	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.517C>T	15.37:g.92981809C>T	ENSP00000268164:p.Gln173*					ST8SIA2_uc002brb.2_Nonsense_Mutation_p.Q152*	p.Q173*	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	672	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		173			Lumenal (Potential).		Q4VAZ0|Q92470|Q92746	Nonsense_Mutation	SNP	ENST00000268164.3	37	c.517C>T	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870708	0.72065	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	.	.	.	5.03	4.11	0.48088	.	0.908425	0.09607	N	0.779515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.465	9.382	0.38320	0.2896:0.5702:0.1401:0.0	.	.	.	.	X	173;152;130	.	ENSP00000268164:Q173X	Q	+	1	0	ST8SIA2	90782813	0.000000	0.05858	0.993000	0.49108	0.627000	0.37826	0.627000	0.24506	1.108000	0.41662	-0.261000	0.10672	CAG		0.602	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		5	40	0	0	0	0	5	40				
MCTP2	55784	broad.mit.edu	37	15	94901811	94901811	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:94901811A>T	ENST00000357742.4	+	9	1271	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	MCTP2_ENST00000451018.3_Missense_Mutation_p.D424V|MCTP2_ENST00000557742.1_Missense_Mutation_p.D12V|MCTP2_ENST00000543482.1_3'UTR|MCTP2_ENST00000331706.4_Missense_Mutation_p.D12V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	424	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGGGAAAGGACAACAAAAAG	0.502																																						uc002btj.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1270-1272)GAC>GTC		multiple C2 domains, transmembrane 2 isoform 1							125.0	108.0	114.0					15																	94901811		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94901811A>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1271A>T	15.37:g.94901811A>T	ENSP00000350377:p.Asp424Val					MCTP2_uc010urg.1_3'UTR|MCTP2_uc002bti.2_Missense_Mutation_p.D424V|MCTP2_uc010boj.2_Missense_Mutation_p.D153V|MCTP2_uc010bok.2_Missense_Mutation_p.D424V|MCTP2_uc002btk.3_Missense_Mutation_p.D12V|MCTP2_uc002btl.2_Missense_Mutation_p.D12V	p.D424V	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		9	1336	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		424			C2 2.		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1271A>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.185188	0.78677	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.75367	2.52;-0.93;2.52	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.090242	0.85682	D	0.000000	D	0.85396	0.5687	M	0.71296	2.17	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.74674	0.983;0.933;0.984	D	0.86942	0.2080	10	0.87932	D	0	.	16.2847	0.82712	1.0:0.0:0.0:0.0	.	424;12;424	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	V	424;12;424	ENSP00000395109:D424V;ENSP00000329646:D12V;ENSP00000350377:D424V	ENSP00000329646:D12V	D	+	2	0	MCTP2	92702815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.006000	0.76329	2.242000	0.73789	0.528000	0.53228	GAC		0.502	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		6	21	0	0	0	0	6	21				
TARSL2	123283	broad.mit.edu	37	15	102215919	102215919	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr15:102215919A>T	ENST00000335968.3	-	13	1888	c.1672T>A	c.(1672-1674)Tgt>Agt	p.C558S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	558					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACTGCAAACACCCCTTTATT	0.328																																						uc002bxm.2		NA																	0				ovary(2)	2						c.(1672-1674)TGT>AGT		threonyl-tRNA synthetase-like 2							86.0	82.0	83.0					15																	102215919		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102215919A>T	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1672T>A	15.37:g.102215919A>T	ENSP00000338093:p.Cys558Ser					TARSL2_uc002bxl.2_Missense_Mutation_p.C103S|TARSL2_uc010usi.1_RNA	p.C558S	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		13	1727	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		558					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1672T>A	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.467148	0.63625	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.66995	-0.24;-0.24	5.28	5.28	0.74379	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.045464	0.85682	N	0.000000	T	0.75788	0.3897	M	0.93420	3.415	0.80722	D	1	B;P	0.40794	0.04;0.729	B;B	0.40134	0.119;0.32	T	0.82184	-0.0583	10	0.72032	D	0.01	-11.8141	13.1642	0.59560	1.0:0.0:0.0:0.0	.	558;463	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	S	558;463;558	ENSP00000338093:C558S;ENSP00000439899:C558S	ENSP00000329291:C463S	C	-	1	0	TARSL2	100033442	1.000000	0.71417	0.967000	0.41034	0.950000	0.60333	9.084000	0.94076	1.996000	0.58369	0.482000	0.46254	TGT		0.328	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		19	47	0	0	0	0	19	47				
CRAMP1L	57585	broad.mit.edu	37	16	1720768	1720768	+	Silent	SNP	G	G	C	rs201262650		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:1720768G>C	ENST00000397412.3	+	20	3702	c.3603G>C	c.(3601-3603)tcG>tcC	p.S1201S	CRAMP1L_ENST00000262317.4_Silent_p.S576S|CRAMP1L_ENST00000293925.5_Silent_p.S1201S|CRAMP1L_ENST00000436138.3_Silent_p.S1198S|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1201	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATGGAAACTCGCGGGACTCAT	0.582																																						uc010uvh.1		NA																	0					0						c.(3601-3603)TCG>TCC		Crm, cramped-like		G		1,4085		0,1,2042	82.0	88.0	86.0		3603	-11.8	0.0	16		86	7,8375		0,7,4184	no	coding-synonymous	CRAMP1L	NM_020825.3		0,8,6226	CC,CG,GG		0.0835,0.0245,0.0642		1201/1270	1720768	8,12460	2043	4191	6234	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1720768G>C	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3603G>C	16.37:g.1720768G>C						CRAMP1L_uc002cmf.2_RNA	p.S1201S	NM_020825	NP_065876	Q96RY5	CRML_HUMAN			19	3603	+			1201			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.3603G>C	CCDS10440.2																																																																																				0.582	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			12	65	0	0	0	0	12	65				
PKD1	5310	broad.mit.edu	37	16	2159507	2159507	+	Silent	SNP	G	G	A	rs372696163		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:2159507G>A	ENST00000262304.4	-	15	5869	c.5661C>T	c.(5659-5661)atC>atT	p.I1887I	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.I1887I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1887	PKD 14. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAGGCCCACGATGGGCTCCT	0.652																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(5659-5661)ATC>ATT		polycystin 1 isoform 1 precursor		G	,	0,4356		0,0,2178	18.0	16.0	16.0		5661,5661	-1.6	0.0	16		16	2,8572		0,2,4285	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,2,6463	AA,AG,GG		0.0233,0.0,0.0155	,	1887/4303,1887/4304	2159507	2,12928	2178	4287	6465	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159507G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5661C>T	16.37:g.2159507G>A						PKD1_uc002cot.1_Silent_p.I1887I	p.I1887I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	5870	-			1887			PKD 14.|Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.5661C>T	CCDS32369.1																																																																																				0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	21	0	0	0	0	4	21				
ZNF213	7760	broad.mit.edu	37	16	3187533	3187533	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3187533C>G	ENST00000396878.3	+	2	727	c.252C>G	c.(250-252)atC>atG	p.I84M	RP11-473M20.14_ENST00000571963.1_RNA|ZNF213_ENST00000576416.1_Missense_Mutation_p.I84M|ZNF213_ENST00000416391.2_5'UTR|RP11-473M20.14_ENST00000576590.1_RNA|RP11-473M20.14_ENST00000571449.1_RNA|RP11-473M20.14_ENST00000575089.1_RNA|ZNF213_ENST00000574902.1_Missense_Mutation_p.I84M	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	84	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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGAGCAGATCCTGGAGCTGC	0.662																																						uc010uws.1		NA																	0					0						c.(250-252)ATC>ATG		zinc finger protein 213							38.0	42.0	41.0					16																	3187533		2196	4300	6496	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3187533C>G	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.252C>G	16.37:g.3187533C>G	ENSP00000380087:p.Ile84Met					ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_Missense_Mutation_p.I84M|ZNF213_uc010bth.2_Missense_Mutation_p.I84M|ZNF213_uc010uwt.1_Missense_Mutation_p.I84M	p.I84M	NM_004220	NP_004211	O14771	ZN213_HUMAN			2	699	+			84			SCAN box.		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.252C>G	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963928	0.53507	.	.	ENSG00000085644	ENST00000396878	T	0.08984	3.03	5.02	2.69	0.31865	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.46758	D	0.000269	T	0.23410	0.0566	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00888	-1.1526	10	0.87932	D	0	.	9.9658	0.41723	0.0:0.8004:0.0:0.1996	.	84	O14771	ZN213_HUMAN	M	84	ENSP00000380087:I84M	ENSP00000380087:I84M	I	+	3	3	ZNF213	3127534	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-1.283000	0.02796	1.128000	0.42052	0.655000	0.94253	ATC		0.662	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		9	61	0	0	0	0	9	61				
MEFV	4210	broad.mit.edu	37	16	3304450	3304450	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3304450G>A	ENST00000219596.1	-	2	657	c.618C>T	c.(616-618)aaC>aaT	p.N206N	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	206					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						CGGAGCTGGCGTTTCTGCGCA	0.756																																						uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(616-618)AAC>AAT		Mediterranean fever protein	Colchicine(DB01394)						11.0	14.0	13.0					16																	3304450		2162	4230	6392	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304450G>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.618C>T	16.37:g.3304450G>A							p.N206N	NM_000243	NP_000234	O15553	MEFV_HUMAN			2	658	-			206					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.618C>T	CCDS10498.1																																																																																				0.756	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		10	40	0	0	0	0	10	40				
ZNF597	146434	broad.mit.edu	37	16	3487315	3487315	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3487315T>A	ENST00000301744.4	-	4	619	c.384A>T	c.(382-384)ccA>ccT	p.P128P		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GTTCTACTAATGGGGTGTGGT	0.413																																						uc002cvd.2		NA																	0					0						c.(382-384)CCA>CCT		zinc finger protein 597							137.0	140.0	139.0					16																	3487315		2197	4300	6497	SO:0001819	synonymous_variant	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3487315T>A	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.384A>T	16.37:g.3487315T>A							p.P128P	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN			4	568	-			128						Silent	SNP	ENST00000301744.4	37	c.384A>T	CCDS10505.1																																																																																				0.413	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		24	76	0	0	0	0	24	76				
SLX4	84464	broad.mit.edu	37	16	3633428	3633428	+	Missense_Mutation	SNP	G	G	A	rs200628199		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:3633428G>A	ENST00000294008.3	-	14	5463	c.4823C>T	c.(4822-4824)tCa>tTa	p.S1608L	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1608	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCGGAGTCTGAGTCCAGGGT	0.597								Direct reversal of damage																														uc002cvp.2		NA																	0					0						c.(4822-4824)TCA>TTA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							98.0	91.0	94.0					16																	3633428		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3633428G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4823C>T	16.37:g.3633428G>A	ENSP00000294008:p.Ser1608Leu						p.S1608L	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			14	5450	-			1608			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.4823C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182826	0.78677	.	.	ENSG00000188827	ENST00000294008	T	0.01647	4.71	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	L	0.52905	1.665	0.50813	D	0.999898	D	0.76494	0.999	D	0.80764	0.994	T	0.01118	-1.1446	10	0.87932	D	0	.	18.6935	0.91592	0.0:0.0:1.0:0.0	.	1608	Q8IY92	SLX4_HUMAN	L	1608	ENSP00000294008:S1608L	ENSP00000294008:S1608L	S	-	2	0	SLX4	3573429	1.000000	0.71417	0.956000	0.39512	0.406000	0.30931	7.174000	0.77620	2.653000	0.90120	0.655000	0.94253	TCA		0.597	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		8	122	0	0	0	0	8	122				
ABAT	18	broad.mit.edu	37	16	8860098	8860098	+	Missense_Mutation	SNP	G	G	A	rs139121258		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:8860098G>A	ENST00000396600.2	+	9	1512	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ABAT_ENST00000268251.8_Missense_Mutation_p.E192K|ABAT_ENST00000425191.2_Missense_Mutation_p.E192K|ABAT_ENST00000567812.1_Missense_Mutation_p.E207K|ABAT_ENST00000569156.1_Missense_Mutation_p.E192K	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	192					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTTCTCCCAGGAGGAGCTGGA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19679	0.0		0.001	False		,,,				2504	0.0					uc002czc.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(574-576)GAG>AAG		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						66.0	63.0	64.0					16																	8860098		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8860098G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.574G>A	16.37:g.8860098G>A	ENSP00000379845:p.Glu192Lys					ABAT_uc002czd.3_Missense_Mutation_p.E192K|ABAT_uc010buh.2_Missense_Mutation_p.E134K|ABAT_uc010bui.2_Missense_Mutation_p.E192K	p.E192K	NM_020686	NP_065737	P80404	GABT_HUMAN			9	740	+			192					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.574G>A	CCDS10534.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	26.0	4.690379	0.88735	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.76709	-1.04;-1.04;-1.04	5.0	5.0	0.66597	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.90145	3.09	0.80722	D	1	P	0.42161	0.772	B	0.42851	0.4	D	0.87852	0.2658	10	0.62326	D	0.03	-18.4003	17.3467	0.87311	0.0:0.0:1.0:0.0	.	192	P80404	GABT_HUMAN	K	192	ENSP00000268251:E192K;ENSP00000379845:E192K;ENSP00000411916:E192K	ENSP00000268251:E192K	E	+	1	0	ABAT	8767599	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.904000	0.92590	2.333000	0.79357	0.555000	0.69702	GAG		0.552	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		9	26	0	0	0	0	9	26				
RRN3	54700	broad.mit.edu	37	16	15179505	15179505	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:15179505C>T	ENST00000198767.6	-	6	606	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	RRN3_ENST00000429751.2_Missense_Mutation_p.E145K|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.E142K|RRN3_ENST00000564131.1_Missense_Mutation_p.E175K|RRN3_ENST00000540462.1_Missense_Mutation_p.E26K|RRN3_ENST00000563559.1_Missense_Mutation_p.E175K	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	175					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTATCATCTTCATCATCAGAA	0.408																																						uc002dde.2		NA																	0				ovary(1)	1						c.(523-525)GAA>AAA		RRN3 RNA polymerase I transcription factor							24.0	24.0	24.0					16																	15179505		2195	4295	6490	SO:0001583	missense	54700				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		g.chr16:15179505C>T	AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.523G>A	16.37:g.15179505C>T	ENSP00000198767:p.Glu175Lys					PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.E76K|RRN3_uc010uzq.1_Missense_Mutation_p.E145K|RRN3_uc002ddf.1_Missense_Mutation_p.E175K	p.E175K	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN			6	591	-			175					A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	ENST00000198767.6	37	c.523G>A	CCDS10559.1	.	.	.	.	.	.	.	.	.	.	.	16.25	3.071280	0.55646	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.25	4.25	0.50352	.	0.071260	0.53938	U	0.000049	T	0.50820	0.1638	L	0.49640	1.575	0.54753	D	0.999989	B;D;P;D	0.56746	0.314;0.96;0.6;0.977	B;P;B;P	0.59357	0.027;0.673;0.437;0.856	T	0.42310	-0.9459	10	0.10111	T	0.7	.	16.0005	0.80290	0.0:1.0:0.0:0.0	.	145;76;175;175	F5H148;B4DZL9;Q3MHU9;Q9NYV6	.;.;.;RRN3_HUMAN	K	175;145;142;26	ENSP00000198767:E175K;ENSP00000402027:E145K;ENSP00000318484:E142K;ENSP00000437963:E26K	ENSP00000198767:E175K	E	-	1	0	RRN3	15087006	1.000000	0.71417	0.975000	0.42487	0.475000	0.33008	6.005000	0.70716	2.069000	0.61940	0.462000	0.41574	GAA		0.408	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427		5	26	0	0	0	0	5	26				
MYH11	4629	broad.mit.edu	37	16	15833949	15833949	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:15833949C>T	ENST00000300036.5	-	23	3065	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	MYH11_ENST00000396324.3_Missense_Mutation_p.E993K|MYH11_ENST00000452625.2_Missense_Mutation_p.E993K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.E986K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	986					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						ACCAGGATCTCATCCTCCAGT	0.517			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.(2956-2958)GAG>AAG		smooth muscle myosin heavy chain 11 isoform							157.0	138.0	144.0					16																	15833949		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.chr16:15833949C>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.2956G>A	16.37:g.15833949C>T	ENSP00000300036:p.Glu986Lys					MYH11_uc002ddv.2_Missense_Mutation_p.E993K|MYH11_uc002ddw.2_Missense_Mutation_p.E986K|MYH11_uc002ddx.2_Missense_Mutation_p.E993K|MYH11_uc010bvg.2_Missense_Mutation_p.E818K	p.E986K	NM_002474	NP_002465	P35749	MYH11_HUMAN			23	3063	-			986			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2956G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783017	0.70222	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	4.28	4.28	0.50868	.	0.335460	0.29389	N	0.012290	D	0.91253	0.7243	M	0.67569	2.06	0.37306	D	0.908916	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.001	B;B;B;B;B	0.22601	0.007;0.009;0.009;0.017;0.04	D	0.91398	0.5141	10	0.87932	D	0	.	15.7506	0.77983	0.0:1.0:0.0:0.0	.	993;986;993;986;993	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	986;986;993;993;993	ENSP00000300036:E986K;ENSP00000345136:E986K;ENSP00000379616:E993K;ENSP00000407821:E993K	ENSP00000300036:E986K	E	-	1	0	MYH11	15741450	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	7.672000	0.83956	1.952000	0.56665	0.486000	0.48141	GAG		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		7	119	0	0	0	0	7	119				
GP2	2813	broad.mit.edu	37	16	20329553	20329553	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:20329553T>G	ENST00000381362.4	-	8	1292	c.1216A>C	c.(1216-1218)Act>Cct	p.T406P	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Missense_Mutation_p.T256P|GP2_ENST00000302555.5_Missense_Mutation_p.T403P|GP2_ENST00000381360.5_Missense_Mutation_p.T259P	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	406	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGTCTTCAGTGGGGGTGGCA	0.468																																						uc002dgv.2		NA																	0				ovary(3)|skin(1)	4						c.(1216-1218)ACT>CCT		zymogen granule membrane glycoprotein 2 isoform							169.0	143.0	152.0					16																	20329553		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20329553T>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1216A>C	16.37:g.20329553T>G	ENSP00000370767:p.Thr406Pro					GP2_uc002dgw.2_Missense_Mutation_p.T403P|GP2_uc002dgx.2_Missense_Mutation_p.T259P|GP2_uc002dgy.2_Missense_Mutation_p.T256P	p.T406P	NM_001007240	NP_001007241	P55259	GP2_HUMAN			8	1299	-			406			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1216A>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189582	0.57909	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.9	3.49	0.39957	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.90352	0.6981	M	0.83953	2.67	0.09310	N	1	D;D;D;D	0.76494	0.977;0.999;0.989;0.981	D;D;P;D	0.76575	0.936;0.988;0.836;0.93	T	0.81132	-0.1072	9	0.66056	D	0.02	-4.934	9.6382	0.39822	0.3591:0.0:0.0:0.6409	.	256;384;403;406	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	P	403;406;259;256;384	ENSP00000304044:T403P;ENSP00000370767:T406P;ENSP00000370765:T259P;ENSP00000343861:T256P	ENSP00000304044:T403P	T	-	1	0	GP2	20237054	0.657000	0.27393	0.035000	0.18076	0.993000	0.82548	0.159000	0.16442	0.361000	0.24292	0.528000	0.53228	ACT		0.468	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		7	48	0	0	0	0	7	48				
SCNN1G	6340	broad.mit.edu	37	16	23226476	23226476	+	Missense_Mutation	SNP	G	G	A	rs143742457	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:23226476G>A	ENST00000300061.2	+	13	1779	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	546					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTTGTCTGCGTCATCGAGAT	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		19870	0.0		0.002	False		,,,				2504	0.0					uc002dlm.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1636-1638)GTC>ATC		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)	G	ILE/VAL	0,4394		0,0,2197	118.0	97.0	104.0		1636	-0.2	0.8	16	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SCNN1G	NM_001039.3	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	546/650	23226476	2,12992	2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226476G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1636G>A	16.37:g.23226476G>A	ENSP00000300061:p.Val546Ile						p.V546I	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1775	+			546			Helical; (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1636G>A	CCDS10608.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	13.31	2.198463	0.38806	0.0	2.33E-4	ENSG00000166828	ENST00000300061	T	0.61510	0.1	5.22	-0.207	0.13189	.	0.264181	0.31734	N	0.007159	T	0.45816	0.1361	L	0.52266	1.64	0.36561	D	0.872407	B	0.16603	0.018	B	0.15052	0.012	T	0.35871	-0.9771	10	0.30854	T	0.27	-8.1294	9.7885	0.40690	0.3343:0.0:0.6657:0.0	.	546	P51170	SCNNG_HUMAN	I	546	ENSP00000300061:V546I	ENSP00000300061:V546I	V	+	1	0	SCNN1G	23133977	0.930000	0.31532	0.847000	0.33407	0.918000	0.54935	1.297000	0.33400	-0.262000	0.09392	0.561000	0.74099	GTC		0.552	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		12	54	0	0	0	0	12	54				
GTF3C1	2975	broad.mit.edu	37	16	27561184	27561184	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:27561184C>G	ENST00000356183.4	-	1	43	c.28G>C	c.(28-30)Gaa>Caa	p.E10Q	KIAA0556_ENST00000261588.4_5'Flank|GTF3C1_ENST00000561623.1_Missense_Mutation_p.E10Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	10					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGAGCGACTTCGTCCAACAAC	0.687																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(28-30)GAA>CAA		general transcription factor IIIC, polypeptide							22.0	26.0	25.0					16																	27561184		2195	4298	6493	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27561184C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.28G>C	16.37:g.27561184C>G	ENSP00000348510:p.Glu10Gln					GTF3C1_uc002dou.2_Missense_Mutation_p.E10Q|KIAA0556_uc002dow.2_5'Flank	p.E10Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			1	68	-			10					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.28G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366338	0.95900	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.28255	1.62	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.81802	2.56	0.45567	D	0.998515	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66810	-0.5829	10	0.87932	D	0	.	17.2075	0.86922	0.0:1.0:0.0:0.0	.	10;10	Q12789;Q12789-3	TF3C1_HUMAN;.	Q	10	ENSP00000348510:E10Q	ENSP00000348510:E10Q	E	-	1	0	GTF3C1	27468685	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.636000	0.74299	2.128000	0.65567	0.555000	0.69702	GAA		0.687	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		10	23	0	0	0	0	10	23				
KAT8	84148	broad.mit.edu	37	16	31131716	31131716	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:31131716G>T	ENST00000543774.2	+	4	678	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L	KAT8_ENST00000219797.4_Missense_Mutation_p.V115L|KAT8_ENST00000448516.2_Missense_Mutation_p.V115L|RP11-196G11.4_ENST00000576336.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	115	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										GACCAAGACAGTGAAGGATGC	0.557																																						uc002eay.2		NA																	0				ovary(1)	1						c.(343-345)GTG>TTG		MYST histone acetyltransferase 1 isoform 1							64.0	60.0	61.0					16																	31131716		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31131716G>T	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.343G>T	16.37:g.31131716G>T	ENSP00000456933:p.Val115Leu					MYST1_uc002eax.2_Missense_Mutation_p.V115L	p.V115L	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			3	361	+			115			Chromo.		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.343G>T	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668260	0.67814	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.42131	0.98;0.98	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.33485	1.01	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.17098	0.004;0.017	T	0.06092	-1.0846	10	0.28530	T	0.3	-28.008	19.4154	0.94694	0.0:0.0:1.0:0.0	.	115;115	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	L	115	ENSP00000219797:V115L;ENSP00000406037:V115L	ENSP00000219797:V115L	V	+	1	0	KAT8	31039217	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	4.822000	0.62686	2.884000	0.98904	0.655000	0.94253	GTG		0.557	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		23	41	1	0	1.64e-13	3.41e-13	23	41				
ITGAM	3684	broad.mit.edu	37	16	31308844	31308844	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:31308844T>C	ENST00000287497.8	+	13	1441	c.1366T>C	c.(1366-1368)Tac>Cac	p.Y456H	ITGAM_ENST00000544665.3_Missense_Mutation_p.Y456H			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	456					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GATCGGCGCCTACTTCGGGGC	0.587																																						uc002ebq.2		NA																	0				kidney(1)	1						c.(1366-1368)TAC>CAC		integrin alpha M isoform 2 precursor							119.0	130.0	126.0					16																	31308844		2190	4293	6483	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308844T>C	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1366T>C	16.37:g.31308844T>C	ENSP00000287497:p.Tyr456His					ITGAM_uc002ebr.2_Missense_Mutation_p.Y456H|ITGAM_uc010cam.1_Missense_Mutation_p.L59P|ITGAM_uc010can.2_5'UTR	p.Y456H	NM_000632	NP_000623	P11215	ITAM_HUMAN			13	1464	+			456			FG-GAP 5.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1366T>C	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527348	0.44969	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.32515	1.45;1.45	3.73	3.73	0.42828	.	.	.	.	.	T	0.63390	0.2507	H	0.95365	3.66	0.43777	D	0.996301	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.71324	-0.4627	9	0.87932	D	0	.	9.0074	0.36120	0.0:0.0:0.0:1.0	.	456;456	Q4VAK1;P11215	.;ITAM_HUMAN	H	456	ENSP00000441691:Y456H;ENSP00000287497:Y456H	ENSP00000287497:Y456H	Y	+	1	0	ITGAM	31216345	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.992000	0.70609	1.682000	0.51000	0.533000	0.62120	TAC		0.587	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		35	162	0	0	0	0	35	162				
TGFB1I1	7041	broad.mit.edu	37	16	31487345	31487345	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:31487345C>G	ENST00000394863.3	+	8	857	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.L226V|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.L226V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.L226V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	243	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GGTGACGGCTCTGGGCCGCGC	0.647																																						uc002ecd.1		NA																	0					0						c.(727-729)CTG>GTG		transforming growth factor beta 1 induced							49.0	50.0	50.0					16																	31487345		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31487345C>G	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.727C>G	16.37:g.31487345C>G	ENSP00000378332:p.Leu243Val					TGFB1I1_uc002ece.1_Missense_Mutation_p.L226V|TGFB1I1_uc010caq.1_Missense_Mutation_p.L82V	p.L243V	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			8	753	+			243			LIM zinc-binding 1.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.727C>G	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680538	0.68042	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	D;D;D	0.88277	-2.36;-2.36;-2.36	5.32	3.3	0.37823	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	D	0.93667	0.7977	M	0.84511	2.7	0.53005	D	0.999964	D	0.76494	0.999	D	0.72075	0.976	D	0.92862	0.6306	10	0.87932	D	0	.	9.1613	0.37023	0.0:0.8189:0.0:0.1811	.	243	O43294	TGFI1_HUMAN	V	243;226;226	ENSP00000378332:L243V;ENSP00000355117:L226V;ENSP00000378327:L226V	ENSP00000355117:L226V	L	+	1	2	TGFB1I1	31394846	0.115000	0.22152	0.683000	0.30040	0.949000	0.60115	0.532000	0.23067	0.664000	0.31047	0.655000	0.94253	CTG		0.647	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			15	52	0	0	0	0	15	52				
ABCC12	94160	broad.mit.edu	37	16	48145806	48145806	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:48145806C>G	ENST00000311303.3	-	14	2350	c.2005G>C	c.(2005-2007)Gat>Cat	p.D669H	ABCC12_ENST00000448542.1_Missense_Mutation_p.D669H|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	669	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATAACTTCATCACAAGACTCT	0.433																																						uc002efc.1		NA																	0				ovary(2)|skin(1)	3						c.(2005-2007)GAT>CAT		ATP-binding cassette protein C12							76.0	72.0	74.0					16																	48145806		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145806C>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2005G>C	16.37:g.48145806C>G	ENSP00000311030:p.Asp669His					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.D669H	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			14	2351	-		all_cancers(37;0.0474)|all_lung(18;0.047)	669			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2005G>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847684	0.51164	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.95949	-3.86;-3.86	5.72	4.77	0.60923	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.048378	0.85682	D	0.000000	D	0.97967	0.9331	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98364	1.0550	10	0.87932	D	0	.	13.9906	0.64364	0.0:0.9245:0.0:0.0755	.	669	Q96J65	MRP9_HUMAN	H	669;669;611	ENSP00000311030:D669H;ENSP00000401855:D669H	ENSP00000311030:D669H	D	-	1	0	ABCC12	46703307	1.000000	0.71417	0.995000	0.50966	0.107000	0.19398	5.329000	0.65892	2.698000	0.92095	0.561000	0.74099	GAT		0.433	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		6	33	0	0	0	0	6	33				
CDH8	1006	broad.mit.edu	37	16	61851473	61851473	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:61851473T>C	ENST00000577390.1	-	7	2141	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	CDH8_ENST00000577730.1_Missense_Mutation_p.Y396C|CDH8_ENST00000299345.6_Missense_Mutation_p.Y396C|CDH8_ENST00000584337.1_Missense_Mutation_p.Y396C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	396	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTCAAGTAGGTAAGTCGGTGA	0.483																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(1186-1188)TAC>TGC		cadherin 8, type 2 preproprotein							95.0	83.0	87.0					16																	61851473		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851473T>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1187A>G	16.37:g.61851473T>C	ENSP00000462701:p.Tyr396Cys					CDH8_uc002eoh.2_Missense_Mutation_p.Y165C	p.Y396C	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	1439	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	396			Extracellular (Potential).|Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1187A>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332612	0.60853	.	.	ENSG00000150394	ENST00000299345	T	0.01918	4.56	6.17	6.17	0.99709	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.39761	-0.9598	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	212;396	Q3LID3;P55286	.;CADH8_HUMAN	C	396	ENSP00000299345:Y396C	ENSP00000299345:Y396C	Y	-	2	0	CDH8	60408974	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	4.687000	0.61708	2.371000	0.80710	0.533000	0.62120	TAC		0.483	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		9	39	0	0	0	0	9	39				
C16orf70	80262	broad.mit.edu	37	16	67173918	67173918	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:67173918G>A	ENST00000219139.3	+	9	881	c.693G>A	c.(691-693)aaG>aaA	p.K231K	C16orf70_ENST00000569600.1_Silent_p.K231K	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	231										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAGATGCCAAGATGCGGGTAT	0.473																																						uc002erc.2		NA																	0				ovary(2)	2						c.(691-693)AAG>AAA		lin-10							170.0	161.0	164.0					16																	67173918		2199	4300	6499	SO:0001819	synonymous_variant	80262							g.chr16:67173918G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.693G>A	16.37:g.67173918G>A						C16orf70_uc002erd.2_Silent_p.K231K	p.K231K	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	10	777	+		Ovarian(137;0.192)	231					Q9HA86	Silent	SNP	ENST00000219139.3	37	c.693G>A	CCDS10828.1																																																																																				0.473	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		10	198	0	0	0	0	10	198				
HSD11B2	3291	broad.mit.edu	37	16	67470691	67470691	+	Missense_Mutation	SNP	C	C	T	rs375919297		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:67470691C>T	ENST00000326152.5	+	5	1135	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	335	Essential for protein stability.				female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		AGCTCGGCCCCGCCGCCGCTA	0.637																																						uc002etd.2		NA																	0					0						c.(1003-1005)CGC>TGC		hydroxysteroid (11-beta) dehydrogenase 2	NADH(DB00157)	C	CYS/ARG	0,4392		0,0,2196	57.0	59.0	58.0		1003	4.8	0.6	16		58	1,8593		0,1,4296	no	missense	HSD11B2	NM_000196.3	180	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	335/406	67470691	1,12985	2196	4297	6493	SO:0001583	missense	3291				glucocorticoid biosynthetic process	endoplasmic reticulum|microsome		g.chr16:67470691C>T	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.1003C>T	16.37:g.67470691C>T	ENSP00000316786:p.Arg335Cys						p.R335C	NM_000196	NP_000187	P80365	DHI2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	5	1119	+		Ovarian(137;0.0563)	335					A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	ENST00000326152.5	37	c.1003C>T	CCDS10837.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050132	0.19827	0.0	1.16E-4	ENSG00000176387	ENST00000326152	D	0.89746	-2.56	4.84	4.84	0.62591	NAD(P)-binding domain (1);	0.660669	0.15985	N	0.235081	D	0.88362	0.6416	M	0.78637	2.42	0.20307	N	0.999918	P	0.45396	0.857	B	0.42653	0.394	T	0.83223	-0.0067	10	0.51188	T	0.08	.	8.5294	0.33324	0.1705:0.6644:0.1652:0.0	.	335	P80365	DHI2_HUMAN	C	335	ENSP00000316786:R335C	ENSP00000316786:R335C	R	+	1	0	HSD11B2	66028192	0.000000	0.05858	0.564000	0.28396	0.021000	0.10359	0.805000	0.27112	2.229000	0.72834	0.563000	0.77884	CGC		0.637	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		17	140	0	0	0	0	17	140				
CYB5B	80777	broad.mit.edu	37	16	69458700	69458700	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:69458700G>C	ENST00000512062.1	+	1	273	c.102G>C	c.(100-102)ttG>ttC	p.L34F	CYB5B_ENST00000515314.1_Missense_Mutation_p.L34F|CYB5B_ENST00000307892.8_Missense_Mutation_p.L38F|CYB5B_ENST00000561792.1_Missense_Mutation_p.L34F			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	34	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GCAACTCCTTGAAGGAACTGT	0.607																																						uc002exg.1		NA																	0					0						c.(112-114)TTG>TTC		cytochrome b5 outer mitochondrial membrane							72.0	76.0	75.0					16																	69458700		2085	4221	6306	SO:0001583	missense	80777				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding	g.chr16:69458700G>C		CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.102G>C	16.37:g.69458700G>C	ENSP00000423679:p.Leu34Phe					CYB5B_uc002exf.2_Missense_Mutation_p.L38F|CYB5B_uc010cfl.1_Missense_Mutation_p.L38F	p.L38F	NM_030579	NP_085056	O43169	CYB5B_HUMAN			1	203	+		Ovarian(137;0.101)	34			Cytochrome b5 heme-binding.		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	ENST00000512062.1	37	c.114G>C		.	.	.	.	.	.	.	.	.	.	G	13.29	2.191605	0.38707	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	T;T;T	0.80123	-1.34;-1.34;-1.34	6.17	5.19	0.71726	Cytochrome b5 (4);	1.149730	0.06111	N	0.667068	T	0.75803	0.3899	N	0.21508	0.67	0.09310	N	1	B;B;B	0.24768	0.005;0.111;0.0	B;B;B	0.29862	0.021;0.108;0.003	T	0.61874	-0.6973	10	0.45353	T	0.12	-6.3947	15.3782	0.74630	0.0:0.2427:0.7572:0.0	.	34;34;34	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	F	34;38;34	ENSP00000423679:L34F;ENSP00000308430:L38F;ENSP00000421492:L34F	ENSP00000308430:L38F	L	+	3	2	CYB5B	68016201	0.993000	0.37304	0.771000	0.31576	0.891000	0.51852	3.329000	0.52060	2.941000	0.99782	0.655000	0.94253	TTG		0.607	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256606.2	NM_030579		4	54	0	0	0	0	4	54				
CYB5B	80777	broad.mit.edu	37	16	69458737	69458737	+	Missense_Mutation	SNP	G	G	A	rs553628600		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:69458737G>A	ENST00000512062.1	+	1	310	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CYB5B_ENST00000515314.1_Missense_Mutation_p.D47N|CYB5B_ENST00000307892.8_Missense_Mutation_p.D51N|CYB5B_ENST00000561792.1_Missense_Mutation_p.D47N			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	47	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				GCGAGTCTACGATGTCACCCG	0.587																																						uc002exg.1		NA																	0					0						c.(151-153)GAT>AAT		cytochrome b5 outer mitochondrial membrane							56.0	58.0	58.0					16																	69458737		2087	4206	6293	SO:0001583	missense	80777				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding	g.chr16:69458737G>A		CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.139G>A	16.37:g.69458737G>A	ENSP00000423679:p.Asp47Asn					CYB5B_uc002exf.2_Missense_Mutation_p.D51N|CYB5B_uc010cfl.1_Missense_Mutation_p.D51N	p.D51N	NM_030579	NP_085056	O43169	CYB5B_HUMAN			1	240	+		Ovarian(137;0.101)	47			Cytochrome b5 heme-binding.		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	ENST00000512062.1	37	c.151G>A		.	.	.	.	.	.	.	.	.	.	G	22.5	4.293484	0.80914	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	D;D;D	0.92595	-3.07;-3.07;-3.07	6.03	6.03	0.97812	Cytochrome b5 (5);	0.084056	0.85682	N	0.000000	D	0.94483	0.8224	L	0.46741	1.465	0.80722	D	1	B;D;B	0.89917	0.171;1.0;0.286	B;D;B	0.69307	0.177;0.963;0.19	D	0.93931	0.7214	10	0.51188	T	0.08	-9.0458	18.3396	0.90300	0.0:0.0:1.0:0.0	.	47;47;47	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	N	47;51;47	ENSP00000423679:D47N;ENSP00000308430:D51N;ENSP00000421492:D47N	ENSP00000308430:D51N	D	+	1	0	CYB5B	68016238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.640000	0.54350	2.854000	0.98071	0.655000	0.94253	GAT		0.587	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256606.2	NM_030579		5	40	0	0	0	0	5	40				
SF3B3	23450	broad.mit.edu	37	16	70573046	70573046	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:70573046G>T	ENST00000302516.5	+	8	1214	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F	SNORD111_ENST00000408139.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	335					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TACTGTACCCGTTGCTGCTGC	0.423																																						uc002ezf.2		NA																	0				ovary(1)	1						c.(1003-1005)GTT>TTT		splicing factor 3b, subunit 3							172.0	154.0	160.0					16																	70573046		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70573046G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1003G>T	16.37:g.70573046G>T	ENSP00000305790:p.Val335Phe						p.V335F	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			8	1214	+		Ovarian(137;0.0694)	335					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.1003G>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819883	0.90873	.	.	ENSG00000189091	ENST00000302516	T	0.49720	0.77	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.63965	0.2556	M	0.89478	3.035	0.80722	D	1	P	0.36959	0.575	B	0.42462	0.388	T	0.69250	-0.5194	10	0.51188	T	0.08	.	19.1339	0.93418	0.0:0.0:1.0:0.0	.	335	Q15393	SF3B3_HUMAN	F	335	ENSP00000305790:V335F	ENSP00000305790:V335F	V	+	1	0	SF3B3	69130547	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.837000	0.99465	2.524000	0.85096	0.484000	0.47621	GTT		0.423	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		43	90	1	0	2.22e-12	4.54e-12	43	90				
HYDIN	54768	broad.mit.edu	37	16	71015349	71015349	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:71015349C>G	ENST00000393567.2	-	29	4605	c.4455G>C	c.(4453-4455)ctG>ctC	p.L1485L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1485					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)		p.L1436L(1)|p.L1484L(1)		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)				CCTCTCCGCTCAGAGTGATAT	0.483																																						uc002ezr.2		NA																	2	Substitution - coding silent(2)		cervix(2)	ovary(1)|skin(1)	2						c.(4450-4452)CTG>CTC		hydrocephalus inducing isoform a							55.0	54.0	54.0					16																	71015349		1814	4057	5871	SO:0001819	synonymous_variant	54768							g.chr16:71015349C>G	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.4455G>C	16.37:g.71015349C>G							p.L1484L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			29	4580	-		Ovarian(137;0.0654)	1485					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.4452G>C	CCDS59269.1																																																																																				0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			10	63	0	0	0	0	10	63				
PMFBP1	83449	broad.mit.edu	37	16	72158692	72158692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:72158692C>A	ENST00000537792.1	-	1	60	c.61G>T	c.(61-63)Gag>Tag	p.E21*	PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E855*|PMFBP1_ENST00000537465.1_Nonsense_Mutation_p.E860*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E710*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	860						cytoplasm (GO:0005737)		p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGGAGGTTCTCTTTTAAGGCG	0.567											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fcc.3		NA																	1	Substitution - Nonsense(1)		kidney(1)	ovary(2)	2						c.(2578-2580)GAG>TAG		polyamine modulated factor 1 binding protein 1							155.0	140.0	145.0					16																	72158692		2198	4300	6498	SO:0001587	stop_gained	83449							g.chr16:72158692C>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.61G>T	16.37:g.72158692C>A	ENSP00000443366:p.Glu21*		OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_uc002fcd.2_Nonsense_Mutation_p.E855*|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Nonsense_Mutation_p.E710*|PMFBP1_uc010cgo.1_Nonsense_Mutation_p.E151*	p.E860*	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			17	2750	-		Ovarian(137;0.179)	860			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Nonsense_Mutation	SNP	ENST00000537792.1	37	c.2578G>T		.	.	.	.	.	.	.	.	.	.	C	40	7.912823	0.98557	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	5.09	3.13	0.36017	.	0.563207	0.16261	N	0.222234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.8509	6.7255	0.23355	0.0:0.7259:0.1795:0.0945	.	.	.	.	X	21;860;855;710	.	ENSP00000237353:E855X	E	-	1	0	PMFBP1	70716193	0.981000	0.34729	0.696000	0.30242	0.028000	0.11728	0.866000	0.27954	0.719000	0.32188	-0.176000	0.13171	GAG		0.567	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293		18	138	1	0	8.01e-06	1.46e-05	18	138				
MLKL	197259	broad.mit.edu	37	16	74716632	74716632	+	Silent	SNP	C	C	G	rs150099936		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:74716632C>G	ENST00000308807.7	-	6	1336	c.873G>C	c.(871-873)ctG>ctC	p.L291L	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ACAGCTCCCTCAGGGTCCCGA	0.557																																						uc002fdb.2		NA																	0		p.L291P(1)		stomach(2)	2						c.(871-873)CTG>CTC		mixed lineage kinase domain-like isoform 1							73.0	64.0	67.0					16																	74716632		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74716632C>G	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.873G>C	16.37:g.74716632C>G						MLKL_uc002fdc.2_Intron	p.L291L	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN			6	1314	-			291		L -> P (in a gastric adenocarcinoma sample; somatic mutation).	Protein kinase.			Silent	SNP	ENST00000308807.7	37	c.873G>C	CCDS32487.1																																																																																				0.557	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		3	53	0	0	0	0	3	53				
TMEM170A	124491	broad.mit.edu	37	16	75481557	75481557	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr16:75481557C>A	ENST00000561878.1	-	3	431	c.334G>T	c.(334-336)Gca>Tca	p.A112S	TMEM170A_ENST00000566980.1_Missense_Mutation_p.A44S|RP11-77K12.1_ENST00000567194.1_Intron|TMEM170A_ENST00000569540.1_Missense_Mutation_p.A74S|TMEM170A_ENST00000567796.1_Missense_Mutation_p.A67S|RP11-77K12.1_ENST00000561887.1_Intron|TMEM170A_ENST00000357613.4_Missense_Mutation_p.A89S	NM_145254.1	NP_660297.1	Q8WVE7	T170A_HUMAN	transmembrane protein 170A	112						integral component of membrane (GO:0016021)				endometrium(1)	1						TCCTTCCCTGCTGCTCGGTAA	0.398																																						uc002fee.1		NA																	0					0						c.(334-336)GCA>TCA		transmembrane protein 170A							156.0	136.0	143.0					16																	75481557		2198	4300	6498	SO:0001583	missense	124491					integral to membrane		g.chr16:75481557C>A	BX648484	CCDS10917.1	16q23.1	2008-06-10	2008-06-10	2008-06-10	ENSG00000166822	ENSG00000166822			29577	protein-coding gene	gene with protein product			"""transmembrane protein 170"""	TMEM170		12477932	Standard	NM_145254		Approved	FLJ37611	uc002fee.1	Q8WVE7	OTTHUMG00000137614	ENST00000561878.1:c.334G>T	16.37:g.75481557C>A	ENSP00000454404:p.Ala112Ser					TMEM170A_uc002feb.2_Missense_Mutation_p.A74S|TMEM170A_uc002fec.2_Missense_Mutation_p.A89S|TMEM170A_uc002fed.1_RNA	p.A112S	NM_145254	NP_660297	Q8WVE7	T170A_HUMAN			3	420	-			112			Extracellular (Potential).		B2R4R3|B4DPS4|D3DUK2|Q7Z6F3	Missense_Mutation	SNP	ENST00000561878.1	37	c.334G>T	CCDS10917.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161402	0.78226	.	.	ENSG00000166822	ENST00000357613	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	N	0.25789	0.76	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.997	D;D;D	0.80764	0.994;0.986;0.994	T	0.55585	-0.8118	9	0.15952	T	0.53	-7.3404	18.0507	0.89347	0.0:1.0:0.0:0.0	.	112;89;74	Q8WVE7;Q8WVE7-2;B3KT46	T170A_HUMAN;.;.	S	112	.	ENSP00000350230:A112S	A	-	1	0	TMEM170A	74039058	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	7.255000	0.78338	2.861000	0.98227	0.655000	0.94253	GCA		0.398	TMEM170A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269030.2	NM_145254		14	73	1	0	7.93e-07	1.48e-06	14	73				
PITPNA	5306	broad.mit.edu	37	17	1437393	1437393	+	Splice_Site	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:1437393T>C	ENST00000313486.7	-	10	1023	c.768A>G	c.(766-768)gaA>gaG	p.E256E	PITPNA_ENST00000539476.1_Splice_Site_p.E256E	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	256					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CCCCACTTACTTCATCCAGCT	0.502																																						uc002fst.3		NA																	0				ovary(1)	1						c.(766-768)GAA>GAG		phosphatidylinositol transfer protein, alpha							203.0	200.0	201.0					17																	1437393		1908	4129	6037	SO:0001630	splice_region_variant	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1437393T>C	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.768+1A>G	17.37:g.1437393T>C						PITPNA_uc010cjt.2_Silent_p.E140E|PITPNA_uc010cju.2_Silent_p.E154E	p.E256E	NM_006224	NP_006215	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	9	1024	-			256						Silent	SNP	ENST00000313486.7	37	c.768A>G	CCDS45563.1																																																																																				0.502	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3		Silent	4	295	0	0	0	0	4	295				
CTNS	1497	broad.mit.edu	37	17	3561357	3561357	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:3561357T>C	ENST00000046640.3	+	10	1333	c.740T>C	c.(739-741)tTc>tCc	p.F247S	CTNS_ENST00000441220.2_Missense_Mutation_p.F139S|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Missense_Mutation_p.F100S|CTNS_ENST00000381870.3_Missense_Mutation_p.F247S	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	247					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GCGTGGCTCTTCGCATTTGTC	0.622																																						uc002fwb.2		NA																	0					0						c.(739-741)TTC>TCC		cystinosin isoform 2	L-Cystine(DB00138)						137.0	119.0	125.0					17																	3561357		2203	4300	6503	SO:0001583	missense	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3561357T>C	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.740T>C	17.37:g.3561357T>C	ENSP00000046640:p.Phe247Ser					CTNS_uc002fwa.2_Missense_Mutation_p.F247S|CTNS_uc010ckj.2_Missense_Mutation_p.F247S|CTNS_uc010vrv.1_Missense_Mutation_p.F100S|CTNS_uc010vrw.1_Missense_Mutation_p.F139S	p.F247S	NM_004937	NP_004928	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	10	1333	+			247			Helical; (Potential).		D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	c.740T>C	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	t	22.1	4.245445	0.80024	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000441220;ENST00000414524	D;D;D;D	0.97232	-3.89;-3.91;-4.3;-4.14	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	L	0.61387	1.9	0.80722	D	1	D;B;D	0.76494	0.998;0.23;0.999	P;B;D	0.67231	0.878;0.119;0.95	D	0.97073	0.9779	10	0.28530	T	0.3	-19.6721	15.0999	0.72266	0.0:0.0:0.0:1.0	.	139;247;247	F8W6Z1;O60931;O60931-2	.;CTNS_HUMAN;.	S	247;247;139;100	ENSP00000046640:F247S;ENSP00000371294:F247S;ENSP00000411465:F139S;ENSP00000395471:F100S	ENSP00000046640:F247S	F	+	2	0	CTNS	3508106	1.000000	0.71417	0.924000	0.36721	0.456000	0.32438	7.353000	0.79414	2.220000	0.72140	0.533000	0.62120	TTC		0.622	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		38	81	0	0	0	0	38	81				
SPNS3	201305	broad.mit.edu	37	17	4389751	4389751	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:4389751G>T	ENST00000355530.2	+	11	1603	c.1323G>T	c.(1321-1323)caG>caT	p.Q441H	RP13-580F15.2_ENST00000577064.1_RNA|RP13-580F15.2_ENST00000577176.1_RNA|RP13-580F15.2_ENST00000576086.1_RNA|SPNS3_ENST00000333476.2_Missense_Mutation_p.Q314H	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	441					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCTATCTGCAGCGCTTCCGCA	0.662																																						uc002fxt.2		NA																	0				large_intestine(1)	1						c.(1321-1323)CAG>CAT		spinster homolog 3							31.0	34.0	33.0					17																	4389751		2203	4299	6502	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4389751G>T		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1323G>T	17.37:g.4389751G>T	ENSP00000347721:p.Gln441His					SPNS3_uc002fxu.2_Missense_Mutation_p.Q314H|SPNS3_uc002fxv.2_Missense_Mutation_p.Q92H|uc002fxw.1_5'Flank	p.Q441H	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			11	1367	+			441					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.1323G>T	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	2.731	-0.264476	0.05754	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.23754	2.47;1.89	4.78	2.74	0.32292	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.329006	0.34777	N	0.003685	T	0.38427	0.1040	M	0.70595	2.14	0.31193	N	0.700694	D;B	0.60575	0.988;0.038	P;B	0.59221	0.854;0.009	T	0.39623	-0.9605	10	0.41790	T	0.15	-8.7933	5.9958	0.19493	0.1787:0.1562:0.6651:0.0	.	314;441	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	H	441;314	ENSP00000347721:Q441H;ENSP00000333207:Q314H	ENSP00000333207:Q314H	Q	+	3	2	SPNS3	4336500	0.829000	0.29322	0.998000	0.56505	0.244000	0.25665	1.217000	0.32455	0.680000	0.31366	0.591000	0.81541	CAG		0.662	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		8	45	1	0	2.62e-13	5.42e-13	8	45				
DVL2	1856	broad.mit.edu	37	17	7131012	7131012	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:7131012G>A	ENST00000005340.5	-	11	1475	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	DVL2_ENST00000575458.1_Missense_Mutation_p.S392F|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	398					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGTGCTCATGGAGGAGGAACC	0.597																																						uc002gez.1		NA																	0				lung(1)|kidney(1)	2						c.(1192-1194)TCC>TTC		dishevelled 2							65.0	63.0	64.0					17																	7131012		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7131012G>A	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1193C>T	17.37:g.7131012G>A	ENSP00000005340:p.Ser398Phe					DVL2_uc010vtr.1_Missense_Mutation_p.S392F	p.S398F	NM_004422	NP_004413	O14641	DVL2_HUMAN			11	1475	-			398					D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.1193C>T	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503878	0.85176	.	.	ENSG00000004975	ENST00000005340	T	0.05580	3.42	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	M	0.88310	2.945	0.80722	D	1	P;P	0.42483	0.609;0.781	B;B	0.37387	0.168;0.248	T	0.07751	-1.0756	10	0.35671	T	0.21	-21.5344	15.0392	0.71774	0.0:0.0:1.0:0.0	.	392;398	B4DLQ0;O14641	.;DVL2_HUMAN	F	398	ENSP00000005340:S398F	ENSP00000005340:S398F	S	-	2	0	DVL2	7071736	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.076000	0.94009	2.412000	0.81896	0.563000	0.77884	TCC		0.597	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		5	17	0	0	0	0	5	17				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)CGT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	18	0	0	0	0	13	18				
WDR16	146845	broad.mit.edu	37	17	9536276	9536276	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:9536276C>G	ENST00000352665.5	+	10	1315	c.1246C>G	c.(1246-1248)Cac>Gac	p.H416D	WDR16_ENST00000396219.3_Missense_Mutation_p.H348D|WDR16_ENST00000299764.5_Missense_Mutation_p.H426D	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TAACAATGCTCACAGGATCGG	0.517																																						uc002gly.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1246-1248)CAC>GAC		WD40-repeat protein upregulated in HCC isoform							94.0	80.0	85.0					17																	9536276		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9536276C>G	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1246C>G	17.37:g.9536276C>G	ENSP00000339449:p.His416Asp					WDR16_uc002glz.2_Missense_Mutation_p.H348D|WDR16_uc010coc.2_Missense_Mutation_p.H426D	p.H416D	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			10	1315	+			416			WD 7.			Missense_Mutation	SNP	ENST00000352665.5	37	c.1246C>G	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492407	0.84962	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.81247	-1.47;-1.47;-1.47	4.89	4.89	0.63831	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	D	0.92277	0.7550	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94390	0.7613	10	0.87932	D	0	-16.7362	16.8592	0.86013	0.0:1.0:0.0:0.0	.	426;348;416	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	D	416;348;426	ENSP00000339449:H416D;ENSP00000379521:H348D;ENSP00000299764:H426D	ENSP00000299764:H426D	H	+	1	0	WDR16	9477001	1.000000	0.71417	0.982000	0.44146	0.842000	0.47809	7.357000	0.79456	2.242000	0.73789	0.462000	0.41574	CAC		0.517	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		9	54	0	0	0	0	9	54				
MYH1	4619	broad.mit.edu	37	17	10406202	10406202	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:10406202A>G	ENST00000226207.5	-	24	3058	c.2964T>C	c.(2962-2964)ggT>ggC	p.G988G	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	988					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						TTTCATCCAGACCCGCCATCT	0.507																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2962-2964)GGT>GGC		myosin, heavy chain 1, skeletal muscle, adult							203.0	190.0	194.0					17																	10406202		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10406202A>G		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.2964T>C	17.37:g.10406202A>G						uc002gml.1_Intron	p.G988G	NM_005963	NP_005954	P12882	MYH1_HUMAN			24	3058	-			988			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2964T>C	CCDS11155.1																																																																																				0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		30	148	0	0	0	0	30	148				
MYOCD	93649	broad.mit.edu	37	17	12666489	12666489	+	Missense_Mutation	SNP	C	C	T	rs376756900		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:12666489C>T	ENST00000343344.4	+	13	2345	c.2345C>T	c.(2344-2346)tCg>tTg	p.S782L	MYOCD_ENST00000425538.1_Missense_Mutation_p.S830L|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	782					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCAAGCCCTCGGCTTCCTTT	0.498																																						uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2344-2346)TCG>TTG		myocardin isoform 2		C	LEU/SER,LEU/SER	0,4406		0,0,2203	105.0	100.0	102.0		2489,2345	3.8	0.0	17		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYOCD	NM_001146312.1,NM_153604.2	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	830/987,782/939	12666489	1,13005	2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666489C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2345C>T	17.37:g.12666489C>T	ENSP00000341835:p.Ser782Leu					MYOCD_uc002gno.2_Missense_Mutation_p.S830L|MYOCD_uc002gnq.2_Missense_Mutation_p.S506L	p.S782L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	2644	+			782					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2345C>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872510	0.33069	0.0	1.16E-4	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.47528	0.86;0.84	5.83	3.85	0.44370	.	0.462648	0.24120	N	0.041366	T	0.60971	0.2310	M	0.68952	2.095	0.21105	N	0.999782	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.66351	0.837;0.943;0.838	T	0.51911	-0.8645	10	0.38643	T	0.18	-4.7671	9.7618	0.40537	0.0:0.8389:0.0:0.1611	.	506;830;782	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	L	506;830;782;492	ENSP00000341835:S782L;ENSP00000400148:S492L	ENSP00000341835:S782L	S	+	2	0	MYOCD	12607214	0.043000	0.20138	0.002000	0.10522	0.022000	0.10575	2.929000	0.48916	0.810000	0.34279	0.655000	0.94253	TCG		0.498	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		5	89	0	0	0	0	5	89				
MYOCD	93649	broad.mit.edu	37	17	12666815	12666815	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:12666815G>C	ENST00000343344.4	+	13	2671	c.2671G>C	c.(2671-2673)Gag>Cag	p.E891Q	MYOCD_ENST00000425538.1_Missense_Mutation_p.E939Q|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	891					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAAACCATGGAGTGGCTGGA	0.552																																						uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2671-2673)GAG>CAG		myocardin isoform 2							74.0	65.0	68.0					17																	12666815		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666815G>C	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2671G>C	17.37:g.12666815G>C	ENSP00000341835:p.Glu891Gln					MYOCD_uc002gno.2_Missense_Mutation_p.E939Q|MYOCD_uc002gnq.2_Missense_Mutation_p.E615Q	p.E891Q	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	2970	+			891					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2671G>C	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865919	0.91511	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.59364	0.27;0.34	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.982;0.999;0.998	T	0.74520	-0.3638	10	0.42905	T	0.14	-41.079	19.4349	0.94788	0.0:0.0:1.0:0.0	.	615;939;891	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	Q	615;939;891;601	ENSP00000341835:E891Q;ENSP00000400148:E601Q	ENSP00000341835:E891Q	E	+	1	0	MYOCD	12607540	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.414000	0.97362	2.894000	0.99253	0.655000	0.94253	GAG		0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		9	40	0	0	0	0	9	40				
KIAA0100	9703	broad.mit.edu	37	17	26961727	26961727	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:26961727G>A	ENST00000528896.2	-	16	2952	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R817C|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R817C|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	960						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)					AGTGCCCGGCGCATGGGTGTG	0.527																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2878-2880)CGC>TGC		hypothetical protein LOC9703 precursor							107.0	107.0	107.0					17																	26961727		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26961727G>A	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	ENST00000528896.2:c.2878C>T	17.37:g.26961727G>A	ENSP00000436773:p.Arg960Cys						p.R960C	NM_014680	NP_055495	Q14667	K0100_HUMAN			16	2977	-	Lung NSC(42;0.00431)		960					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.2878C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905491	0.72868	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.32515	1.45;1.46	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58317	-0.7657	10	0.72032	D	0.01	.	20.2651	0.98459	0.0:0.0:1.0:0.0	.	960	Q14667	K0100_HUMAN	C	960;930;960;817	ENSP00000436773:R960C;ENSP00000446443:R817C	ENSP00000005905:R960C	R	-	1	0	KIAA0100	23985854	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.105000	0.50314	2.796000	0.96246	0.563000	0.77884	CGC		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		7	109	0	0	0	0	7	109				
TAOK1	57551	broad.mit.edu	37	17	27829692	27829692	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:27829692C>G	ENST00000261716.3	+	13	1808	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.S430*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	430					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CGTCACAAATCACACTATCGT	0.393																																						uc002hdz.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1288-1290)TCA>TGA		TAO kinase 1							178.0	145.0	156.0					17																	27829692		2203	4300	6503	SO:0001587	stop_gained	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27829692C>G	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1289C>G	17.37:g.27829692C>G	ENSP00000261716:p.Ser430*					TAOK1_uc010wbe.1_Nonsense_Mutation_p.S430*|TAOK1_uc010wbf.1_Nonsense_Mutation_p.S430*|TAOK1_uc002heb.1_Nonsense_Mutation_p.S256*	p.S430*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		13	1483	+			430					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	37	c.1289C>G	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	43	10.512850	0.99419	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	.	.	.	6.03	6.03	0.97812	.	0.169916	0.42682	D	0.000671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	430	.	ENSP00000261716:S430X	S	+	2	0	TAOK1	24853818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.748000	0.55142	2.854000	0.98071	0.655000	0.94253	TCA		0.393	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		7	41	0	0	0	0	7	41				
LRRC37B	114659	broad.mit.edu	37	17	30374901	30374901	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:30374901C>G	ENST00000341671.7	+	9	2369	c.2364C>G	c.(2362-2364)atC>atG	p.I788M	LRRC37B_ENST00000394713.3_Missense_Mutation_p.I737M|LRRC37B_ENST00000327564.7_Missense_Mutation_p.I815M|LRRC37B_ENST00000584368.1_Missense_Mutation_p.I749M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.I706M	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	788						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCAGTGGCATCAACTTGTCAG	0.507																																						uc002hgu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2362-2364)ATC>ATG		leucine rich repeat containing 37B precursor							179.0	182.0	181.0					17																	30374901		2203	4298	6501	SO:0001583	missense	114659					integral to membrane		g.chr17:30374901C>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2364C>G	17.37:g.30374901C>G	ENSP00000340519:p.Ile788Met					LRRC37B_uc010wbx.1_Missense_Mutation_p.I706M|LRRC37B_uc010csu.2_Missense_Mutation_p.I737M	p.I788M	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			9	2375	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	788			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.2364C>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	2.281	-0.364708	0.05103	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.66280	-0.15;-0.2;0.89;-0.2	1.9	1.9	0.25705	.	.	.	.	.	T	0.64068	0.2565	L	0.60455	1.87	0.09310	N	1	D;P	0.60160	0.987;0.524	P;B	0.52386	0.697;0.059	T	0.53121	-0.8483	9	0.52906	T	0.07	.	7.3404	0.26633	0.0:1.0:0.0:0.0	.	737;788	Q17RC9;Q96QE4	.;LR37B_HUMAN	M	706;815;737;788	ENSP00000443345:I706M;ENSP00000332536:I815M;ENSP00000378202:I737M;ENSP00000340519:I788M	ENSP00000332536:I815M	I	+	3	3	LRRC37B	27399014	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.086000	0.14935	1.377000	0.46286	0.440000	0.28878	ATC		0.507	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		25	309	0	0	0	0	25	309				
SLFN12	55106	broad.mit.edu	37	17	33749704	33749704	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:33749704G>C	ENST00000394562.1	-	4	867	c.344C>G	c.(343-345)tCt>tGt	p.S115C	SLFN12_ENST00000452764.3_Missense_Mutation_p.S115C|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Missense_Mutation_p.S115C			Q8IYM2	SLN12_HUMAN	schlafen family member 12	115							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGCAGACCAGAGGTGTTCAA	0.398																																						uc002hji.3		NA																	0				skin(1)	1						c.(343-345)TCT>TGT		schlafen family member 12							68.0	67.0	67.0					17																	33749704		2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33749704G>C	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.344C>G	17.37:g.33749704G>C	ENSP00000378063:p.Ser115Cys					SLFN12_uc002hjj.3_Missense_Mutation_p.S115C|SLFN12_uc010cts.2_Missense_Mutation_p.S115C	p.S115C	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	721	-		Ovarian(249;0.17)	115					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.344C>G	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	g	13.62	2.290621	0.40494	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040	T;T;T;T	0.25250	3.71;3.71;3.71;1.81	3.05	-0.201	0.13212	.	.	.	.	.	T	0.28466	0.0704	L	0.53249	1.67	0.09310	N	1	D	0.58620	0.983	P	0.51415	0.669	T	0.14420	-1.0473	9	0.37606	T	0.19	.	5.1335	0.14922	0.4434:0.0:0.5566:0.0	.	115	Q8IYM2	SLN12_HUMAN	C	115	ENSP00000378063:S115C;ENSP00000302077:S115C;ENSP00000394903:S115C;ENSP00000398315:S115C	ENSP00000302077:S115C	S	-	2	0	SLFN12	30773817	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-0.372000	0.07504	0.144000	0.18951	0.436000	0.28706	TCT		0.398	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		9	54	0	0	0	0	9	54				
MYO19	80179	broad.mit.edu	37	17	34871743	34871743	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:34871743C>G	ENST00000431794.3	-	7	1027	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	MYO19_ENST00000268852.9_Missense_Mutation_p.E169Q|MYO19_ENST00000586007.1_Missense_Mutation_p.E169Q|MYO19_ENST00000544606.1_Missense_Mutation_p.E35Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	169	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCCTCTGTTCTATCCTCTCT	0.517																																						uc010wcy.1		NA																	0				ovary(1)	1						c.(505-507)GAA>CAA		myosin XIX isoform 2							81.0	84.0	83.0					17																	34871743		1985	4154	6139	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34871743C>G	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.505G>C	17.37:g.34871743C>G	ENSP00000409936:p.Glu169Gln					MYO19_uc002hmw.2_Missense_Mutation_p.E169Q|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Missense_Mutation_p.E35Q|MYO19_uc002hmx.2_Missense_Mutation_p.E169Q	p.E169Q	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	8	1497	-		Breast(25;0.00957)|Ovarian(249;0.17)	169			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.505G>C	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165372	0.94768	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.89123	-2.47;-2.47;-2.47	5.72	5.72	0.89469	Myosin head, motor domain (2);	0.000000	0.43260	D	0.000594	D	0.94175	0.8131	M	0.73372	2.23	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.994;1.0	D;D;P;D	0.97110	0.995;1.0;0.835;0.999	D	0.94174	0.7426	10	0.66056	D	0.02	.	18.4429	0.90673	0.0:1.0:0.0:0.0	.	35;169;169;169	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	Q	169;169;35	ENSP00000409936:E169Q;ENSP00000268852:E169Q;ENSP00000438365:E35Q	ENSP00000268852:E169Q	E	-	1	0	MYO19	31945856	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	7.244000	0.78228	2.706000	0.92434	0.467000	0.42956	GAA		0.517	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		8	37	0	0	0	0	8	37				
HNF1B	6928	broad.mit.edu	37	17	36093688	36093688	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36093688G>C	ENST00000225893.4	-	3	1032	c.671C>G	c.(670-672)tCt>tGt	p.S224C	HNF1B_ENST00000560016.1_Missense_Mutation_p.S224C|HNF1B_ENST00000561193.1_Missense_Mutation_p.S198C|HNF1B_ENST00000427275.2_Missense_Mutation_p.S198C	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	224					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGTGGGCTCAGAGCAGGCATC	0.552																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.3		NA																	0				ovary(3)	3						c.(670-672)TCT>TGT		hepatocyte nuclear factor 1-beta isoform 1							85.0	78.0	80.0					17																	36093688		2203	4300	6503	SO:0001583	missense	6928	Hereditary_Prostate_Cancer			endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36093688G>C	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.671C>G	17.37:g.36093688G>C	ENSP00000225893:p.Ser224Cys					HNF1B_uc010wdi.1_Missense_Mutation_p.S198C|HNF1B_uc010cve.1_Missense_Mutation_p.S32C	p.S224C	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		3	892	-		Breast(25;0.00765)|Ovarian(249;0.15)	224					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.671C>G	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669807	0.67814	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.96104	-3.91;-3.91	5.03	5.03	0.67393	Homeodomain-like (1);	0.361326	0.35739	N	0.003007	D	0.95265	0.8464	L	0.27053	0.805	0.40683	D	0.982323	P;D;P	0.65815	0.74;0.995;0.896	B;P;B	0.60789	0.353;0.879;0.302	D	0.96037	0.9021	10	0.59425	D	0.04	-4.9482	17.5093	0.87755	0.0:0.0:1.0:0.0	.	198;224;224	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	C	224;198;224;112	ENSP00000225893:S224C;ENSP00000412212:S198C	ENSP00000225893:S224C	S	-	2	0	HNF1B	33167801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.590000	0.46154	2.603000	0.88011	0.591000	0.81541	TCT		0.552	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		15	56	0	0	0	0	15	56				
GPR179	440435	broad.mit.edu	37	17	36484183	36484183	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484183C>G	ENST00000342292.4	-	11	5289	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1757					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTCCCACTCTGGGGTTGGC	0.547																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(5269-5271)GAG>CAG		GPR158-like 1 precursor							39.0	41.0	40.0					17																	36484183		1905	4115	6020	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484183C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5269G>C	17.37:g.36484183C>G	ENSP00000345060:p.Glu1757Gln						p.E1757Q	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	5290	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1757			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.5269G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023573	0.54683	.	.	ENSG00000188888	ENST00000342292	T	0.59364	0.27	4.94	2.9	0.33743	.	0.157646	0.30003	N	0.010650	T	0.43787	0.1263	L	0.59436	1.845	0.09310	N	1	P	0.44429	0.835	B	0.35073	0.195	T	0.48234	-0.9053	10	0.59425	D	0.04	-8.5274	3.513	0.07714	0.175:0.564:0.1694:0.0916	.	1757	Q6PRD1	GP179_HUMAN	Q	1757	ENSP00000345060:E1757Q	ENSP00000345060:E1757Q	E	-	1	0	GPR179	33737709	0.000000	0.05858	0.003000	0.11579	0.842000	0.47809	-0.063000	0.11655	0.635000	0.30488	0.655000	0.94253	GAG		0.547	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	50	0	0	0	0	5	50				
GPR179	440435	broad.mit.edu	37	17	36484226	36484226	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484226C>G	ENST00000342292.4	-	11	5246	c.5226G>C	c.(5224-5226)gaG>gaC	p.E1742D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1742					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAACAGCTCTCTCCCTGGGTC	0.577																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(5224-5226)GAG>GAC		GPR158-like 1 precursor							42.0	45.0	44.0					17																	36484226		1936	4140	6076	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484226C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5226G>C	17.37:g.36484226C>G	ENSP00000345060:p.Glu1742Asp						p.E1742D	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	5247	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1742			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.5226G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680124	0.29783	.	.	ENSG00000188888	ENST00000342292	T	0.53423	0.62	4.94	1.72	0.24424	.	0.678860	0.12908	N	0.429227	T	0.30070	0.0753	L	0.47716	1.5	0.09310	N	1	P	0.43094	0.799	B	0.32762	0.152	T	0.10428	-1.0630	10	0.18710	T	0.47	-4.6398	5.8177	0.18506	0.0:0.6641:0.0:0.3359	.	1742	Q6PRD1	GP179_HUMAN	D	1742	ENSP00000345060:E1742D	ENSP00000345060:E1742D	E	-	3	2	GPR179	33737752	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.023000	0.12456	0.680000	0.31366	-0.136000	0.14681	GAG		0.577	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	52	0	0	0	0	5	52				
GPR179	440435	broad.mit.edu	37	17	36484372	36484372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484372C>A	ENST00000342292.4	-	11	5100	c.5080G>T	c.(5080-5082)Gag>Tag	p.E1694*	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1694					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGTTTTCCTCCACATCCAAA	0.557																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(5080-5082)GAG>TAG		GPR158-like 1 precursor							95.0	95.0	95.0					17																	36484372		1952	4146	6098	SO:0001587	stop_gained	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484372C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5080G>T	17.37:g.36484372C>A	ENSP00000345060:p.Glu1694*						p.E1694*	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	5101	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1694			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000342292.4	37	c.5080G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	43	10.377934	0.99394	.	.	ENSG00000188888	ENST00000342292	.	.	.	5.04	1.74	0.24563	.	0.443080	0.18168	N	0.149544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.5132	8.875	0.35340	0.0:0.6134:0.3:0.0867	.	.	.	.	X	1694	.	ENSP00000345060:E1694X	E	-	1	0	GPR179	33737898	0.249000	0.23941	0.021000	0.16686	0.030000	0.12068	1.755000	0.38379	0.679000	0.31345	-0.137000	0.14449	GAG		0.557	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			7	110	1	0	0.00307968	0.00513587	7	110				
GPR179	440435	broad.mit.edu	37	17	36484653	36484653	+	Missense_Mutation	SNP	C	C	G	rs374052452		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36484653C>G	ENST00000342292.4	-	11	4819	c.4799G>C	c.(4798-4800)aGa>aCa	p.R1600T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1600					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCTCTTGTTCTTTCATTTAC	0.493																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(4798-4800)AGA>ACA		GPR158-like 1 precursor							164.0	162.0	163.0					17																	36484653		1985	4175	6160	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484653C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4799G>C	17.37:g.36484653C>G	ENSP00000345060:p.Arg1600Thr						p.R1600T	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	4820	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1600			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.4799G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297495	0.23650	.	.	ENSG00000188888	ENST00000342292	T	0.54071	0.59	4.67	-0.0987	0.13627	.	1.690320	0.03217	N	0.177026	T	0.48429	0.1499	M	0.69823	2.125	0.09310	N	1	B	0.31026	0.304	B	0.23419	0.046	T	0.21586	-1.0241	10	0.42905	T	0.14	3.8101	3.969	0.09444	0.1569:0.4622:0.294:0.0869	.	1600	Q6PRD1	GP179_HUMAN	T	1600	ENSP00000345060:R1600T	ENSP00000345060:R1600T	R	-	2	0	GPR179	33738179	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	0.088000	0.14979	-0.134000	0.11516	-0.311000	0.09066	AGA		0.493	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			10	183	0	0	0	0	10	183				
GPR179	440435	broad.mit.edu	37	17	36485276	36485276	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:36485276C>A	ENST00000342292.4	-	11	4196	c.4176G>T	c.(4174-4176)ggG>ggT	p.G1392G	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1392					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGCTGGTTTCCCATCCTCGC	0.557																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(4174-4176)GGG>GGT		GPR158-like 1 precursor							105.0	112.0	110.0					17																	36485276		2020	4182	6202	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485276C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4176G>T	17.37:g.36485276C>A							p.G1392G	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	4197	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1392			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.4176G>T	CCDS42308.1																																																																																				0.557	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			8	132	1	0	1.13e-05	2.04e-05	8	132				
KCNH4	23415	broad.mit.edu	37	17	40315263	40315263	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:40315263G>A	ENST00000264661.3	-	14	2899	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	KCNH4_ENST00000607371.1_Missense_Mutation_p.S856F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	856					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCGCCTGGGAGCGGGGCCT	0.597																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2		NA																	0				large_intestine(1)	1						c.(2566-2568)TCC>TTC		potassium voltage-gated channel, subfamily H,							55.0	55.0	55.0					17																	40315263		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40315263G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2567C>T	17.37:g.40315263G>A	ENSP00000264661:p.Ser856Phe						p.S856F	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	2900	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	856			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000264661.3	37	c.2567C>T	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	5.709	0.315296	0.10789	.	.	ENSG00000089558	ENST00000264661	D	0.99005	-5.32	4.43	1.1	0.20463	.	0.625646	0.12296	N	0.481600	D	0.94581	0.8254	N	0.22421	0.69	0.09310	N	0.999999	P	0.37864	0.61	B	0.24701	0.055	D	0.91645	0.5330	10	0.51188	T	0.08	.	4.2807	0.10831	0.2188:0.2057:0.5755:0.0	.	856	Q9UQ05	KCNH4_HUMAN	F	856	ENSP00000264661:S856F	ENSP00000264661:S856F	S	-	2	0	KCNH4	37568789	0.000000	0.05858	0.593000	0.28771	0.064000	0.16182	-0.017000	0.12590	0.507000	0.28148	-0.251000	0.11542	TCC		0.597	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		11	46	0	0	0	0	11	46				
EZH1	2145	broad.mit.edu	37	17	40865279	40865279	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:40865279T>C	ENST00000428826.2	-	11	1273	c.1152A>G	c.(1150-1152)aaA>aaG	p.K384K	EZH1_ENST00000435174.1_Silent_p.K245K|EZH1_ENST00000415827.2_Silent_p.K375K|EZH1_ENST00000592743.1_Silent_p.K384K|EZH1_ENST00000585893.1_Silent_p.K344K|EZH1_ENST00000590078.1_Silent_p.K314K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	384					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGTCTCCTTCTTTAGTCTCAG	0.527																																						uc002iaz.2		NA																	0				ovary(3)	3						c.(1150-1152)AAA>AAG		enhancer of zeste homolog 1							106.0	93.0	97.0					17																	40865279		2203	4300	6503	SO:0001819	synonymous_variant	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40865279T>C		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1152A>G	17.37:g.40865279T>C						EZH1_uc002iba.2_Silent_p.K375K|EZH1_uc010wgt.1_Silent_p.K314K|EZH1_uc010wgu.1_Silent_p.K390K|EZH1_uc010wgv.1_Silent_p.K344K|EZH1_uc010wgw.1_Silent_p.K245K|EZH1_uc010cyp.2_Silent_p.K285K|EZH1_uc010cyq.2_Silent_p.K301K|EZH1_uc010cys.2_Silent_p.K335K|EZH1_uc010cyo.1_Silent_p.K47K|EZH1_uc010cyr.1_Silent_p.K36K	p.K384K	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	11	1297	-		Breast(137;0.00104)	384					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	ENST00000428826.2	37	c.1152A>G	CCDS32659.1																																																																																				0.527	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		27	56	0	0	0	0	27	56				
RPRML	388394	broad.mit.edu	37	17	45056164	45056164	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:45056164G>T	ENST00000322329.3	-	1	450	c.210C>A	c.(208-210)atC>atA	p.I70I	LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	70						integral component of membrane (GO:0016021)				lung(1)	1						AGAGCACGGCGATCTGCGCCA	0.687																																						uc002ilb.2		NA																	0					0						c.(208-210)ATC>ATA		reprimo-like							27.0	26.0	26.0					17																	45056164		2199	4300	6499	SO:0001819	synonymous_variant	388394					integral to membrane		g.chr17:45056164G>T	BC033942	CCDS11508.1	17q21.32	2006-09-26				ENSG00000179673			32422	protein-coding gene	gene with protein product							Standard	NM_203400		Approved	MGC43894	uc002ilb.3	Q8N4K4		ENST00000322329.3:c.210C>A	17.37:g.45056164G>T						GOSR2_uc010wkh.1_Intron	p.I70I	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN			1	451	-			70			Helical; (Potential).			Silent	SNP	ENST00000322329.3	37	c.210C>A	CCDS11508.1																																																																																				0.687	RPRML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440919.1	NM_203400		30	33	1	0	1.57e-24	3.38e-24	30	33				
SPOP	8405	broad.mit.edu	37	17	47699430	47699430	+	Splice_Site	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:47699430C>G	ENST00000393328.2	-	4	444		c.e4-1		SPOP_ENST00000347630.2_Splice_Site|SPOP_ENST00000504102.1_Splice_Site|SPOP_ENST00000513080.1_Splice_Site|SPOP_ENST00000503676.1_Splice_Site|SPOP_ENST00000393331.3_Splice_Site	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein						glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTACCTTGATCTGTTGATAGA	0.398										Prostate(2;0.17)																												uc010dbk.2		NA																	0				prostate(2)|ovary(2)|lung(2)	6						c.e4-1		speckle-type POZ protein							41.0	40.0	40.0					17																	47699430		2203	4300	6503	SO:0001630	splice_region_variant	8405				mRNA processing	nucleus	protein binding	g.chr17:47699430C>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.79-1G>C	17.37:g.47699430C>G		Prostate(2;0.17)				SPOP_uc002ipb.2_Splice_Site_p.I27_splice|SPOP_uc002ipc.2_Splice_Site_p.I27_splice|SPOP_uc002ipd.2_Splice_Site_p.I27_splice|SPOP_uc002ipe.2_Splice_Site_p.I27_splice|SPOP_uc002ipf.2_Splice_Site_p.I27_splice|SPOP_uc002ipg.2_Splice_Site_p.I27_splice	p.I27_splice	NM_003563	NP_003554	O43791	SPOP_HUMAN			4	711	-								B2R6S3|D3DTW7|Q53HJ1	Splice_Site	SNP	ENST00000393328.2	37	c.79_splice	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335807	0.81801	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476;ENST00000508805;ENST00000451526	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5655	0.91115	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPOP	45054429	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.651000	0.83577	2.732000	0.93576	0.650000	0.86243	.		0.398	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563	Intron	13	19	0	0	0	0	13	19				
SMG8	55181	broad.mit.edu	37	17	57288086	57288086	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:57288086G>C	ENST00000543872.2	+	2	938	c.674G>C	c.(673-675)cGa>cCa	p.R225P	SMG8_ENST00000300917.5_Missense_Mutation_p.R225P|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.R225P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	225					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACTTATGATCGAGTATTCAGA	0.473																																						uc002ixi.2		NA																	0					0						c.(673-675)CGA>CCA		SMG8 protein							85.0	77.0	80.0					17																	57288086		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288086G>C	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.674G>C	17.37:g.57288086G>C	ENSP00000438748:p.Arg225Pro						p.R225P	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			1	716	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		225					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.674G>C	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152265	0.57259	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.49720	0.77;0.77	5.99	5.02	0.67125	.	0.058725	0.64402	D	0.000003	T	0.51176	0.1659	L	0.53249	1.67	0.47245	D	0.999366	P	0.50819	0.939	P	0.51079	0.658	T	0.51482	-0.8700	10	0.59425	D	0.04	-12.6252	9.9641	0.41715	0.1476:0.0:0.8524:0.0	.	225	Q8ND04	SMG8_HUMAN	P	225	ENSP00000300917:R225P;ENSP00000438748:R225P	ENSP00000300917:R225P	R	+	2	0	SMG8	54642868	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.875000	0.69660	2.840000	0.97914	0.655000	0.94253	CGA		0.473	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		31	37	0	0	0	0	31	37				
TUBD1	51174	broad.mit.edu	37	17	57955478	57955478	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:57955478C>T	ENST00000592426.1	-	4	755	c.755G>A	c.(754-756)aGa>aAa	p.R252K	TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.R252K|TUBD1_ENST00000376094.4_Missense_Mutation_p.R252K|TUBD1_ENST00000340993.6_Missense_Mutation_p.R252K|TUBD1_ENST00000539018.1_Missense_Mutation_p.R36K|TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000394239.3_Missense_Mutation_p.R252K			Q9UJT1	TBD_HUMAN	tubulin, delta 1	252					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TGGATTTCGTCTGTAGTGAAA	0.408																																						uc002ixw.1		NA																	0				ovary(1)	1						c.(754-756)AGA>AAA		delta-tubulin							133.0	110.0	118.0					17																	57955478		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57955478C>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.755G>A	17.37:g.57955478C>T	ENSP00000468518:p.Arg252Lys					TUBD1_uc010ddf.1_Missense_Mutation_p.R252K|TUBD1_uc010ddg.1_Missense_Mutation_p.R217K|TUBD1_uc010ddh.1_Missense_Mutation_p.R133K|TUBD1_uc010wok.1_Missense_Mutation_p.R252K|TUBD1_uc002ixx.1_Missense_Mutation_p.R252K|TUBD1_uc010wol.1_Missense_Mutation_p.R36K|TUBD1_uc010ddi.1_Intron	p.R252K	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		5	1033	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		252					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.755G>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917901	0.33815	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094;ENST00000539018	T;T;T;T	0.76839	-1.05;-0.72;-0.72;-0.84	5.69	5.69	0.88448	Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.218669	0.51477	D	0.000086	T	0.77096	0.4080	L	0.58669	1.825	0.39859	D	0.973342	B;B;B;B;B	0.23937	0.002;0.016;0.094;0.027;0.005	B;B;B;B;B	0.21917	0.007;0.01;0.026;0.037;0.007	T	0.73439	-0.3982	10	0.45353	T	0.12	-8.0733	19.8108	0.96545	0.0:1.0:0.0:0.0	.	252;252;252;252;252	E9PCA7;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	K	252;252;252;252;36	ENSP00000320797:R252K;ENSP00000342399:R252K;ENSP00000377785:R252K;ENSP00000365262:R252K	ENSP00000320797:R252K	R	-	2	0	TUBD1	55310260	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.431000	0.80335	2.678000	0.91216	0.555000	0.69702	AGA		0.408	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		6	27	0	0	0	0	6	27				
CASKIN2	57513	broad.mit.edu	37	17	73498346	73498346	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:73498346C>G	ENST00000321617.3	-	18	3395	c.2809G>C	c.(2809-2811)Gag>Cag	p.E937Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E855Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	937	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGTCCCCTCAGGGCCTGGC	0.701																																						uc002joc.2		NA																	0				pancreas(1)	1						c.(2809-2811)GAG>CAG		cask-interacting protein 2 isoform a							5.0	7.0	6.0					17																	73498346		1840	3730	5570	SO:0001583	missense	57513					cytoplasm		g.chr17:73498346C>G	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2809G>C	17.37:g.73498346C>G	ENSP00000325355:p.Glu937Gln					CASKIN2_uc010wsc.1_Missense_Mutation_p.E855Q	p.E937Q	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3359	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		937			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2809G>C	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786541	0.31593	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70399	-0.48;-0.3	5.0	5.0	0.66597	.	0.000000	0.47093	D	0.000252	T	0.66790	0.2825	L	0.43152	1.355	0.80722	D	1	P	0.48764	0.915	B	0.44315	0.446	T	0.68002	-0.5524	10	0.40728	T	0.16	.	15.835	0.78791	0.0:1.0:0.0:0.0	.	937	Q8WXE0	CSKI2_HUMAN	Q	937;855	ENSP00000325355:E937Q;ENSP00000406963:E855Q	ENSP00000325355:E937Q	E	-	1	0	CASKIN2	71009941	0.984000	0.35163	0.967000	0.41034	0.542000	0.35054	3.351000	0.52232	2.606000	0.88127	0.591000	0.81541	GAG		0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		6	18	0	0	0	0	6	18				
NARF	26502	broad.mit.edu	37	17	80439061	80439061	+	Missense_Mutation	SNP	G	G	A	rs375187791		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr17:80439061G>A	ENST00000309794.11	+	7	941	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	NARF_ENST00000390006.4_Missense_Mutation_p.R189Q|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000412079.2_Missense_Mutation_p.R120Q|NARF_ENST00000345415.7_Missense_Mutation_p.R200Q|NARF_ENST00000457415.3_Missense_Mutation_p.R294Q	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	248						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CATGGCTCCCGGGGCGCTGAC	0.587																																						uc002kfg.3		NA																	0				skin(1)	1						c.(742-744)CGG>CAG		nuclear prelamin A recognition factor isoform a		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	68.0	71.0	70.0		743,743,599,566	0.5	0.0	17		70	1,8599		0,1,4299	no	missense,missense,missense,missense	NARF	NM_031968.2,NM_012336.3,NM_001083608.1,NM_001038618.2	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	248/503,248/457,200/409,189/398	80439061	1,13005	2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80439061G>A	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.743G>A	17.37:g.80439061G>A	ENSP00000309899:p.Arg248Gln					NARF_uc002kff.3_Missense_Mutation_p.R189Q|NARF_uc010wvo.1_Missense_Mutation_p.R203Q|NARF_uc010wvp.1_Missense_Mutation_p.R120Q|NARF_uc010dit.2_Missense_Mutation_p.R248Q|NARF_uc002kfj.3_Missense_Mutation_p.R200Q|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.R294Q|NARF_uc002kfk.2_RNA	p.R248Q	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	883	+	Breast(20;0.00106)|all_neural(118;0.0804)		248					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.743G>A	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	6.496	0.459680	0.12342	0.0	1.16E-4	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415;ENST00000412079;ENST00000457415	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.36	0.501	0.16925	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.348813	0.32301	N	0.006289	T	0.22704	0.0548	N	0.21282	0.65	0.28967	N	0.889484	P;B;B;B;B;B	0.43314	0.803;0.206;0.08;0.307;0.099;0.099	B;B;B;B;B;B	0.36766	0.232;0.136;0.014;0.064;0.053;0.017	T	0.13229	-1.0517	10	0.37606	T	0.19	.	1.3828	0.02233	0.3603:0.143:0.3525:0.1442	.	120;203;248;200;248;248	B4DZZ6;B4DND8;Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;.;.;NARF_HUMAN	Q	189;248;248;200;120;203	ENSP00000374656:R189Q;ENSP00000363739:R248Q;ENSP00000309899:R248Q;ENSP00000283996:R200Q;ENSP00000409710:R120Q	ENSP00000309899:R248Q	R	+	2	0	NARF	78032350	0.916000	0.31088	0.048000	0.18961	0.062000	0.15995	1.825000	0.39081	0.182000	0.20032	-0.500000	0.04577	CGG		0.587	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		19	87	0	0	0	0	19	87				
DLGAP1	9229	broad.mit.edu	37	18	3880032	3880032	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:3880032C>G	ENST00000315677.3	-	4	632	c.37G>C	c.(37-39)Ggg>Cgg	p.G13R	DLGAP1_ENST00000581527.1_Missense_Mutation_p.G13R|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.G13R|DLGAP1_ENST00000515196.2_Missense_Mutation_p.G13R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	13					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGTGACCCCGTGGTGATGG	0.662																																						uc002kmf.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(37-39)GGG>CGG		discs large homolog-associated protein 1 isoform							33.0	28.0	30.0					18																	3880032		2202	4298	6500	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3880032C>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.37G>C	18.37:g.3880032C>G	ENSP00000316377:p.Gly13Arg					DLGAP1_uc010wyz.1_Missense_Mutation_p.G13R|DLGAP1_uc002kmk.2_Missense_Mutation_p.G13R|uc002kml.1_Intron	p.G13R	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	104	-		Colorectal(8;0.0257)	13					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.37G>C	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128585	0.77549	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.12255	2.7;2.7	5.8	5.8	0.92144	.	0.325102	0.33144	N	0.005227	T	0.25306	0.0615	L	0.34521	1.04	0.80722	D	1	D;D;P	0.63046	0.971;0.992;0.872	B;P;P	0.58820	0.431;0.846;0.463	T	0.00284	-1.1848	10	0.33141	T	0.24	-19.7987	20.0706	0.97721	0.0:1.0:0.0:0.0	.	13;13;13	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	R	13	ENSP00000316377:G13R;ENSP00000445973:G13R	ENSP00000316377:G13R	G	-	1	0	DLGAP1	3870032	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.590000	0.46154	2.744000	0.94065	0.655000	0.94253	GGG		0.662	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			11	25	0	0	0	0	11	25				
EPB41L3	23136	broad.mit.edu	37	18	5397176	5397176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:5397176C>A	ENST00000341928.2	-	18	3062	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E686*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E739*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.E213*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E686*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E908*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.E205*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	908	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTAGCGACCTCCTCCCCTCCT	0.577																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2722-2724)GAG>TAG		erythrocyte membrane protein band 4.1-like 3							125.0	103.0	110.0					18																	5397176		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397176C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2722G>T	18.37:g.5397176C>A	ENSP00000343158:p.Glu908*					EPB41L3_uc010wzh.1_Nonsense_Mutation_p.E739*|EPB41L3_uc002kmu.1_Nonsense_Mutation_p.E686*|EPB41L3_uc010dkq.1_Nonsense_Mutation_p.E577*|EPB41L3_uc002kms.1_Nonsense_Mutation_p.E143*|EPB41L3_uc010wze.1_Nonsense_Mutation_p.E213*|EPB41L3_uc010wzf.1_Nonsense_Mutation_p.E205*|EPB41L3_uc010wzg.1_Nonsense_Mutation_p.E180*|EPB41L3_uc010dkr.2_Nonsense_Mutation_p.E300*	p.E908*	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2808	-			908			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.2722G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	38	6.916614	0.97932	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	.	.	.	5.78	3.99	0.46301	.	0.861378	0.10402	N	0.679056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	10.0595	0.42266	0.0:0.6722:0.2594:0.0685	.	.	.	.	X	908;577;739;577;205;213;908;686	.	ENSP00000343158:E908X	E	-	1	0	EPB41L3	5387176	0.998000	0.40836	0.359000	0.25824	0.211000	0.24417	1.268000	0.33062	0.788000	0.33755	0.591000	0.81541	GAG		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		24	124	1	0	6.45e-10	1.28e-09	24	124				
PTPRM	5797	broad.mit.edu	37	18	7955122	7955122	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:7955122C>A	ENST00000332175.8	+	7	1879	c.842C>A	c.(841-843)cCa>cAa	p.P281Q	PTPRM_ENST00000444013.1_Missense_Mutation_p.P68Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.P219Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.P281Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.P281Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	281					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTTCAGAACCACCCGTTCCT	0.448																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(841-843)CCA>CAA		protein tyrosine phosphatase, receptor type, M							64.0	62.0	63.0					18																	7955122		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7955122C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.842C>A	18.37:g.7955122C>A	ENSP00000331418:p.Pro281Gln					PTPRM_uc010dkv.2_Missense_Mutation_p.P281Q|PTPRM_uc010wzl.1_Missense_Mutation_p.P68Q	p.P281Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN			7	1345	+		Colorectal(10;0.234)	281			Fibronectin type-III 1.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.842C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892401	0.52121	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	6.02	6.02	0.97574	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91646	0.7360	M	0.87827	2.91	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	0.91316	0.5078	10	0.56958	D	0.05	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	68;281;281	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	281;281;219;68	ENSP00000331418:P281Q;ENSP00000382933:P281Q;ENSP00000382927:P219Q;ENSP00000387608:P68Q	ENSP00000331418:P281Q	P	+	2	0	PTPRM	7945122	1.000000	0.71417	0.664000	0.29753	0.967000	0.64934	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	CCA		0.448	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			10	56	1	0	3.86e-05	6.86e-05	10	56				
MC2R	4158	broad.mit.edu	37	18	13884801	13884801	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:13884801G>T	ENST00000327606.3	-	2	897	c.717C>A	c.(715-717)gtC>gtA	p.V239V		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	239					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TCATCAAGAGGACATGAAGCA	0.542																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(715-717)GTC>GTA		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						80.0	73.0	75.0					18																	13884801		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884801G>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.717C>A	18.37:g.13884801G>T							p.V239V	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	894	-			239			Helical; Name=6; (By similarity).		A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.717C>A	CCDS11869.1																																																																																				0.542	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			7	49	1	0	8.13e-05	0.00014282	7	49				
ASXL3	80816	broad.mit.edu	37	18	31323161	31323161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:31323161C>T	ENST00000269197.5	+	12	3349	c.3349C>T	c.(3349-3351)Cga>Tga	p.R1117*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1117					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						GCATCAAGCTCGAGCCCATCT	0.527																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3349-3351)CGA>TGA		additional sex combs like 3							38.0	40.0	39.0					18																	31323161		1916	4135	6051	SO:0001587	stop_gained	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323161C>T	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.3349C>T	18.37:g.31323161C>T	ENSP00000269197:p.Arg1117*					ASXL3_uc002kxq.2_Nonsense_Mutation_p.R824*	p.R1117*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3404	+			1117					Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	ENST00000269197.5	37	c.3349C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	39	7.615221	0.98390	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.91	1.52	0.23074	.	0.405075	0.22658	N	0.057225	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6912	0.77453	0.5487:0.4513:0.0:0.0	.	.	.	.	X	1117	.	ENSP00000269197:R1117X	R	+	1	2	ASXL3	29577159	0.648000	0.27313	1.000000	0.80357	0.993000	0.82548	0.528000	0.23002	0.731000	0.32448	0.655000	0.94253	CGA		0.527	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			7	36	0	0	0	0	7	36				
ASXL3	80816	broad.mit.edu	37	18	31326042	31326042	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:31326042G>T	ENST00000269197.5	+	12	6230	c.6230G>T	c.(6229-6231)aGc>aTc	p.S2077I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2077					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						GGCATATGTAGCAATATAAAA	0.428																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(6229-6231)AGC>ATC		additional sex combs like 3							89.0	88.0	88.0					18																	31326042		1879	4102	5981	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326042G>T	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.6230G>T	18.37:g.31326042G>T	ENSP00000269197:p.Ser2077Ile					ASXL3_uc002kxq.2_Missense_Mutation_p.S1784I	p.S2077I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6285	+			2077					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6230G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362503	0.61403	.	.	ENSG00000141431	ENST00000269197	T	0.20598	2.06	5.2	5.2	0.72013	.	.	.	.	.	T	0.34919	0.0914	N	0.24115	0.695	0.46260	D	0.998953	D	0.71674	0.998	D	0.78314	0.991	T	0.20405	-1.0276	9	0.62326	D	0.03	.	18.7452	0.91789	0.0:0.0:1.0:0.0	.	2077	Q9C0F0	ASXL3_HUMAN	I	2077	ENSP00000269197:S2077I	ENSP00000269197:S2077I	S	+	2	0	ASXL3	29580040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.429000	0.82318	0.563000	0.77884	AGC		0.428	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			13	77	1	0	2.32e-09	4.55e-09	13	77				
FHOD3	80206	broad.mit.edu	37	18	34261476	34261476	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:34261476G>T	ENST00000359247.4	+	12	1388	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	FHOD3_ENST00000590592.1_Missense_Mutation_p.R638L|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.R425L|FHOD3_ENST00000257209.4_Missense_Mutation_p.R463L	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	463					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGAGGCGGCGGCAGGAGAGA	0.433																																						uc002kzt.1		NA																	0				skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(1387-1389)CGG>CTG		formin homology 2 domain containing 3							81.0	91.0	87.0					18																	34261476		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261476G>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1388G>T	18.37:g.34261476G>T	ENSP00000352186:p.Arg463Leu					FHOD3_uc002kzr.1_Missense_Mutation_p.R463L|FHOD3_uc002kzs.1_Missense_Mutation_p.R463L|FHOD3_uc010dmz.1_Missense_Mutation_p.R178L	p.R463L	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			12	1485	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	463			Potential.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.1388G>T		.	.	.	.	.	.	.	.	.	.	G	27.3	4.817651	0.90790	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.44482	1.13;0.92;1.27	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.87578	0.986;0.985;0.998;0.995	T	0.68780	-0.5318	10	0.87932	D	0	.	17.3308	0.87262	0.0:0.0:1.0:0.0	.	425;463;463;638	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	L	463;463;425	ENSP00000257209:R463L;ENSP00000352186:R463L;ENSP00000411430:R425L	ENSP00000257209:R463L	R	+	2	0	FHOD3	32515474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.014000	0.93635	2.501000	0.84356	0.655000	0.94253	CGG		0.433	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		11	54	1	0	0.000673444	0.00114853	11	54				
NEDD4L	23327	broad.mit.edu	37	18	56034991	56034991	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:56034991C>G	ENST00000400345.3	+	22	2360	c.2077C>G	c.(2077-2079)Ctt>Gtt	p.L693V	NEDD4L_ENST00000382850.4_Missense_Mutation_p.L673V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L665V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L572V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.L572V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L685V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L552V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L589V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L553V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L629V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L552V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	693	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CAACTACACCCTTCAGATCAA	0.413																																						uc002lgy.2		NA																	0				lung(4)	4						c.(2077-2079)CTT>GTT		neural precursor cell expressed, developmentally							127.0	116.0	119.0					18																	56034991		1889	4114	6003	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56034991C>G	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2077C>G	18.37:g.56034991C>G	ENSP00000383199:p.Leu693Val					NEDD4L_uc002lgz.2_Missense_Mutation_p.L629V|NEDD4L_uc002lgx.2_Missense_Mutation_p.L673V|NEDD4L_uc010xee.1_Missense_Mutation_p.L572V|NEDD4L_uc002lhc.2_Missense_Mutation_p.L685V|NEDD4L_uc002lhd.2_Missense_Mutation_p.L572V|NEDD4L_uc002lhb.2_Missense_Mutation_p.L552V|NEDD4L_uc002lhe.2_Missense_Mutation_p.L665V|NEDD4L_uc002lhf.2_Missense_Mutation_p.L552V|NEDD4L_uc002lhg.2_Missense_Mutation_p.L572V|NEDD4L_uc002lhh.2_Missense_Mutation_p.L468V|NEDD4L_uc010dpn.2_Intron	p.L693V	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			22	2351	+			693			HECT.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.2077C>G	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668894	0.88348	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;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;0.26	5.42	5.42	0.78866	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.994;0.981;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.989;0.971;0.999;1.0	T	0.80266	-0.1454	10	0.87932	D	0	.	19.5873	0.95495	0.0:1.0:0.0:0.0	.	665;685;552;629;693;673	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	V	693;673;629;589;553;572;685;552;552;572	ENSP00000383199:L693V;ENSP00000372301:L673V;ENSP00000348847:L629V;ENSP00000256830:L589V;ENSP00000256832:L553V;ENSP00000411947:L572V;ENSP00000350569:L685V;ENSP00000393395:L552V;ENSP00000405440:L552V;ENSP00000389406:L572V	ENSP00000256830:L589V	L	+	1	0	NEDD4L	54185971	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.776000	0.85560	2.702000	0.92279	0.650000	0.86243	CTT		0.413	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			9	43	0	0	0	0	9	43				
ALPK2	115701	broad.mit.edu	37	18	56202141	56202141	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:56202141T>A	ENST00000361673.3	-	5	5491	c.5278A>T	c.(5278-5280)Aaa>Taa	p.K1760*	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1760						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTTCGAGTTTGGGCATCTTT	0.403																																						uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(5278-5280)AAA>TAA		heart alpha-kinase							187.0	178.0	181.0					18																	56202141		2203	4300	6503	SO:0001587	stop_gained	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202141T>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5278A>T	18.37:g.56202141T>A	ENSP00000354991:p.Lys1760*					ALPK2_uc002lhk.1_Nonsense_Mutation_p.K1091*	p.K1760*	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	5492	-			1760					Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	37	c.5278A>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	43	10.481964	0.99413	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.4	4.22	0.49857	.	0.368859	0.29145	N	0.013015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8007	9.2951	0.37811	0.0:0.0842:0.0:0.9158	.	.	.	.	X	1760	.	ENSP00000354991:K1760X	K	-	1	0	ALPK2	54353121	0.677000	0.27577	0.262000	0.24481	0.016000	0.09150	1.444000	0.35068	0.858000	0.35431	0.459000	0.35465	AAA		0.403	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		17	118	0	0	0	0	17	118				
CDH19	28513	broad.mit.edu	37	18	64172405	64172405	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:64172405C>G	ENST00000262150.2	-	12	2255	c.1963G>C	c.(1963-1965)Gat>Cat	p.D655H	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTGCTATATCAAAGGCCTCT	0.433																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1963-1965)GAT>CAT		cadherin 19, type 2 preproprotein							194.0	189.0	191.0					18																	64172405		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172405C>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1963G>C	18.37:g.64172405C>G	ENSP00000262150:p.Asp655His					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	p.D655H	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			12	2101	-		Esophageal squamous(42;0.0132)	655			Cytoplasmic (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1963G>C	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049142	0.55110	.	.	ENSG00000071991	ENST00000262150	D	0.83250	-1.7	5.18	5.18	0.71444	Cadherin, cytoplasmic domain (1);	0.232352	0.41712	D	0.000840	D	0.93641	0.7969	H	0.94503	3.545	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.95191	0.8308	10	0.87932	D	0	.	19.0693	0.93126	0.0:1.0:0.0:0.0	.	655	Q9H159	CAD19_HUMAN	H	655	ENSP00000262150:D655H	ENSP00000262150:D655H	D	-	1	0	CDH19	62323385	1.000000	0.71417	0.067000	0.19924	0.028000	0.11728	7.234000	0.78134	2.564000	0.86499	0.650000	0.86243	GAT		0.433	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		43	167	0	0	0	0	43	167				
LMNB2	84823	broad.mit.edu	37	19	2435054	2435054	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:2435054T>C	ENST00000582871.1	-	5	826	c.740A>G	c.(739-741)cAc>cGc	p.H247R	LMNB2_ENST00000325327.3_Missense_Mutation_p.H267R	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	247	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCTCGTCGTGCTGGCTCCG	0.711																																						uc002lvy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(739-741)CAC>CGC		lamin B2							34.0	36.0	36.0					19																	2435054		2202	4300	6502	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2435054T>C	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.740A>G	19.37:g.2435054T>C	ENSP00000462730:p.His247Arg					LMNB2_uc002lwa.1_Missense_Mutation_p.H267R	p.H247R	NM_032737	NP_116126	Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	827	-		Hepatocellular(1079;0.137)	247			Rod.|Coil 2.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.740A>G		.	.	.	.	.	.	.	.	.	.	T	23.0	4.367006	0.82463	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.83	4.83	0.62350	Filament (1);	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.83118	2.625	0.80722	D	1	D	0.58268	0.982	P	0.60949	0.881	T	0.81703	-0.0812	9	0.87932	D	0	.	13.2379	0.59979	0.0:0.0:0.0:1.0	.	247	Q03252	LMNB2_HUMAN	R	247	.	ENSP00000327054:H247R	H	-	2	0	LMNB2	2386054	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	6.093000	0.71422	1.807000	0.52817	0.459000	0.35465	CAC		0.711	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		10	45	0	0	0	0	10	45				
TLE6	79816	broad.mit.edu	37	19	2987363	2987363	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:2987363C>T	ENST00000246112.4	+	8	752	c.551C>T	c.(550-552)cCa>cTa	p.P184L	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.P61L	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	184					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCAGGCACCAGGCCTGGTG	0.637																																						uc002lwu.2		NA																	0				ovary(1)	1						c.(181-183)CCA>CTA		transducin-like enhancer of split 6 isoform 2							88.0	81.0	83.0					19																	2987363		2203	4300	6503	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2987363C>T	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.551C>T	19.37:g.2987363C>T	ENSP00000246112:p.Pro184Leu					TLE6_uc002lwt.2_Missense_Mutation_p.P184L|TLE6_uc010dtg.2_Intron|TLE6_uc002lwv.2_5'Flank	p.P61L	NM_024760	NP_079036	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	582	+			61					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.182C>T	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	9.513	1.106251	0.20632	.	.	ENSG00000104953	ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.22743	1.94;2.11	2.37	1.3	0.21679	.	.	.	.	.	T	0.12902	0.0313	L	0.29908	0.895	0.19575	N	0.999968	P;B	0.41597	0.756;0.215	B;B	0.36666	0.23;0.096	T	0.16660	-1.0395	9	0.72032	D	0.01	.	5.1805	0.15158	0.0:0.8282:0.0:0.1718	.	61;61	Q9H808;Q6PJM9	TLE6_HUMAN;.	L	184;61;61	ENSP00000246112:P184L;ENSP00000406893:P61L	ENSP00000246112:P184L	P	+	2	0	TLE6	2938363	0.005000	0.15991	0.089000	0.20774	0.203000	0.24098	0.143000	0.16115	0.552000	0.29026	0.555000	0.69702	CCA		0.637	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		5	74	0	0	0	0	5	74				
LRG1	116844	broad.mit.edu	37	19	4538167	4538167	+	Missense_Mutation	SNP	C	C	G	rs112633064		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:4538167C>G	ENST00000306390.6	-	2	1289	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	PLIN5_ENST00000586133.1_5'Flank|LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	277					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGAGCCCCTCGGGCACGCTG	0.642																																						uc002mau.2		NA																	0				ovary(1)	1						c.(829-831)GAG>CAG		leucine-rich alpha-2-glycoprotein 1 precursor							73.0	71.0	72.0					19																	4538167		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538167C>G		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.829G>C	19.37:g.4538167C>G	ENSP00000302621:p.Glu277Gln					PLIN5_uc002mas.2_5'Flank|PLIN5_uc002mat.1_Intron	p.E277Q	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	840	-		Hepatocellular(1079;0.137)	277			LRR 8.		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.829G>C	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	13.27	2.188532	0.38609	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02498	4.27	5.24	-10.4	0.00318	.	2.838550	0.01291	N	0.010011	T	0.02047	0.0064	L	0.39326	1.205	0.09310	N	1	B	0.17268	0.021	B	0.10450	0.005	T	0.43845	-0.9366	10	0.16896	T	0.51	-0.1151	2.1257	0.03738	0.1029:0.2849:0.2138:0.3984	.	277	P02750	A2GL_HUMAN	Q	277;260	ENSP00000302621:E277Q	ENSP00000302621:E277Q	E	-	1	0	LRG1	4489167	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	-3.808000	0.00361	-2.053000	0.00901	-0.140000	0.14226	GAG		0.642	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		11	104	0	0	0	0	11	104				
CRB3	92359	broad.mit.edu	37	19	6465616	6465616	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:6465616C>G	ENST00000598494.1	+	3	674	c.143C>G	c.(142-144)tCc>tGc	p.S48C	CRB3_ENST00000356762.3_Missense_Mutation_p.S48C|CRB3_ENST00000600229.1_Missense_Mutation_p.S48C|CRB3_ENST00000308243.7_Missense_Mutation_p.S48C			Q9BUF7	CRUM3_HUMAN	crumbs family member 3	48					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein localization to plasma membrane (GO:0072659)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|SH3 domain binding (GO:0017124)			endometrium(1)|large_intestine(1)|lung(1)	3						AGCTCCAGCTCCGATGGCAAC	0.493																																						uc002mey.2		NA																	0					0						c.(142-144)TCC>TGC		crumbs 3 isoform a precursor							338.0	272.0	294.0					19																	6465616		2203	4300	6503	SO:0001583	missense	92359				protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding	g.chr19:6465616C>G	AF503290	CCDS12166.1, CCDS12167.1	19p13.3	2014-02-06	2014-02-06		ENSG00000130545	ENSG00000130545			20237	protein-coding gene	gene with protein product		609737	"""crumbs homolog 3 (Drosophila)"""				Standard	XM_005259680		Approved	MGC17303	uc002mez.3	Q9BUF7	OTTHUMG00000181828	ENST00000598494.1:c.143C>G	19.37:g.6465616C>G	ENSP00000469707:p.Ser48Cys					CRB3_uc002mez.2_Missense_Mutation_p.S48C|CRB3_uc002mfa.2_Missense_Mutation_p.S48C	p.S48C	NM_139161	NP_631900	Q9BUF7	CRUM3_HUMAN			3	674	+			48			Extracellular (Potential).		A8KA91|D6W643|Q8N0V8|Q8WVA0	Missense_Mutation	SNP	ENST00000598494.1	37	c.143C>G	CCDS12167.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447292	0.43429	.	.	ENSG00000130545	ENST00000356762;ENST00000308243	.	.	.	3.26	2.22	0.28083	.	0.806182	0.10154	N	0.709203	T	0.50411	0.1614	M	0.67953	2.075	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.53450	0.634;0.726	T	0.36625	-0.9740	9	0.72032	D	0.01	-12.846	6.3638	0.21443	0.0:0.8629:0.0:0.1371	.	48;48	Q9BUF7-2;Q9BUF7	.;CRUM3_HUMAN	C	48	.	ENSP00000310123:S48C	S	+	2	0	CRB3	6416616	0.013000	0.17824	0.005000	0.12908	0.129000	0.20672	1.858000	0.39408	0.933000	0.37291	0.563000	0.77884	TCC		0.493	CRB3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457837.1			48	199	0	0	0	0	48	199				
C3	718	broad.mit.edu	37	19	6694461	6694461	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:6694461G>T	ENST00000245907.6	-	24	3227	c.3135C>A	c.(3133-3135)gcC>gcA	p.A1045A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1045					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGAGCTCCAAGGCCCCCTGCC	0.597																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(3133-3135)GCC>GCA		complement component 3 precursor							93.0	73.0	79.0					19																	6694461		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694461G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3135C>A	19.37:g.6694461G>T						C3_uc002mfl.2_5'Flank	p.A1045A	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3197	-			1045					A7E236	Silent	SNP	ENST00000245907.6	37	c.3135C>A	CCDS32883.1																																																																																				0.597	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		12	53	1	0	6.4e-05	0.000113193	12	53				
MCOLN1	57192	broad.mit.edu	37	19	7594574	7594574	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7594574C>G	ENST00000264079.6	+	11	1460	c.1335C>G	c.(1333-1335)atC>atG	p.I445M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	445					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGCTGGATCGTGCTGGGGC	0.582																																						uc002mgo.2		NA																	0				breast(1)	1						c.(1333-1335)ATC>ATG		mucolipin 1							223.0	164.0	184.0					19																	7594574		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7594574C>G	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1335C>G	19.37:g.7594574C>G	ENSP00000264079:p.Ile445Met					MCOLN1_uc002mgp.2_Missense_Mutation_p.I410M	p.I445M	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN			11	1460	+			445			Helical; (Potential).		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1335C>G	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800495	0.50315	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.71698	-0.59	5.47	-4.3	0.03710	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.74824	0.3767	M	0.74258	2.255	0.58432	D	0.999996	D;D	0.60575	0.968;0.988	P;D	0.66497	0.875;0.944	T	0.72721	-0.4208	10	0.42905	T	0.14	.	6.3868	0.21566	0.1379:0.3038:0.0:0.5582	.	410;445	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	445;410	ENSP00000264079:I445M	ENSP00000264079:I445M	I	+	3	3	MCOLN1	7500574	0.013000	0.17824	0.979000	0.43373	0.608000	0.37181	-0.926000	0.03988	-0.185000	0.10550	-1.036000	0.02392	ATC		0.582	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		20	99	0	0	0	0	20	99				
STXBP2	6813	broad.mit.edu	37	19	7705802	7705802	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7705802G>C	ENST00000221283.5	+	6	373	c.342G>C	c.(340-342)ctG>ctC	p.L114L	CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000441779.2_Silent_p.L125L|STXBP2_ENST00000414284.2_Silent_p.L111L	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	114					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCGAGCCCCTGTTCAGTGAGC	0.657																																						uc002mha.3		NA																	0				central_nervous_system(1)	1						c.(340-342)CTG>CTC		syntaxin binding protein 2 isoform a							79.0	76.0	77.0					19																	7705802		2203	4300	6503	SO:0001819	synonymous_variant	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7705802G>C	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.342G>C	19.37:g.7705802G>C						STXBP2_uc002mhb.3_Silent_p.L111L|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Silent_p.L125L|STXBP2_uc010dvk.2_Silent_p.L82L|STXBP2_uc002mhc.3_5'UTR|STXBP2_uc010dvl.1_Silent_p.L275L	p.L114L	NM_006949	NP_008880	Q15833	STXB2_HUMAN			6	387	+			114					B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	37	c.342G>C	CCDS12181.1																																																																																				0.657	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		6	81	0	0	0	0	6	81				
CD209	30835	broad.mit.edu	37	19	7810693	7810693	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:7810693C>T	ENST00000315599.7	-	4	481	c.459G>A	c.(457-459)ctG>ctA	p.L153L	CD209_ENST00000601951.1_Silent_p.L129L|CD209_ENST00000601256.1_Silent_p.L129L|CD209_ENST00000315591.8_Silent_p.L129L|CD209_ENST00000593821.1_Silent_p.L109L|CD209_ENST00000593660.1_Silent_p.L129L|CD209_ENST00000354397.6_Silent_p.L153L|CD209_ENST00000301357.8_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Silent_p.L109L|CD209_ENST00000602261.1_Silent_p.L153L|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	153	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCAGCCTTCAGCCAGGTCA	0.552																																						uc002mht.2		NA																	0				skin(1)	1						c.(457-459)CTG>CTA		CD209 molecule isoform 1							116.0	114.0	115.0					19																	7810693		2198	4297	6495	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810693C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.459G>A	19.37:g.7810693C>T						CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.L129L|CD209_uc002mhr.2_Silent_p.L129L|CD209_uc002mhs.2_Silent_p.L129L|CD209_uc002mhu.2_Silent_p.L153L|CD209_uc010dvq.2_Silent_p.L153L|CD209_uc002mhq.2_Silent_p.L153L|CD209_uc002mhv.2_Silent_p.L129L|CD209_uc002mhx.2_Silent_p.L109L|CD209_uc002mhw.2_Silent_p.L109L|CD209_uc010dvr.2_Intron	p.L153L	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	526	-			153			Extracellular (Probable).|7 X approximate tandem repeats.|3.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.459G>A	CCDS12186.1																																																																																				0.552	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		17	196	0	0	0	0	17	196				
HNRNPM	4670	broad.mit.edu	37	19	8531162	8531162	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:8531162G>A	ENST00000325495.4	+	7	715	c.674G>A	c.(673-675)aGt>aAt	p.S225N	HNRNPM_ENST00000348943.3_Missense_Mutation_p.S186N	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	225	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAAGTATTTAGTATGGCTGGT	0.403																																						uc010dwe.2		NA																	0					0						c.(673-675)AGT>AAT		heterogeneous nuclear ribonucleoprotein M							172.0	169.0	170.0					19																	8531162		2203	4300	6503	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8531162G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.674G>A	19.37:g.8531162G>A	ENSP00000325376:p.Ser225Asn					HNRNPM_uc010dwc.1_Missense_Mutation_p.S225N|HNRNPM_uc010xke.1_Missense_Mutation_p.S186N|HNRNPM_uc010dwd.2_Missense_Mutation_p.S186N|HNRNPM_uc002mka.2_Missense_Mutation_p.S105N	p.S225N	NM_005968	NP_005959	P52272	HNRPM_HUMAN			7	754	+			225			RRM 2.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.674G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604978	0.66445	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.18960	2.18;2.18	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.263364	0.47455	D	0.000223	T	0.34424	0.0897	M	0.72894	2.215	0.40876	D	0.983954	B;B;B;B;B	0.34264	0.025;0.044;0.446;0.265;0.02	B;B;B;B;B	0.42138	0.067;0.039;0.377;0.132;0.118	T	0.05550	-1.0878	10	0.33141	T	0.24	.	18.2445	0.89981	0.0:0.0:1.0:0.0	.	65;225;186;186;125	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	N	225;186;125	ENSP00000325376:S225N;ENSP00000325732:S186N	ENSP00000325376:S225N	S	+	2	0	HNRNPM	8437162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.506000	0.66993	2.653000	0.90120	0.650000	0.86243	AGT		0.403	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			16	100	0	0	0	0	16	100				
MUC16	94025	broad.mit.edu	37	19	9048498	9048498	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9048498G>A	ENST00000397910.4	-	5	33336	c.33133C>T	c.(33133-33135)Ctg>Ttg	p.L11045L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11047	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTGACCAGAGAGGTCACC	0.493																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(33133-33135)CTG>TTG		mucin 16							99.0	89.0	92.0					19																	9048498		1915	4148	6063	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048498G>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.33133C>T	19.37:g.9048498G>A							p.L11045L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	33337	-			11047			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.33133C>T	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	75	0	0	0	0	18	75				
MUC16	94025	broad.mit.edu	37	19	9068263	9068263	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9068263T>A	ENST00000397910.4	-	3	19386	c.19183A>T	c.(19183-19185)Act>Tct	p.T6395S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6397	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTCAGTAGTAGCAGCAGTG	0.488																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19183-19185)ACT>TCT		mucin 16							123.0	119.0	121.0					19																	9068263		2012	4172	6184	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068263T>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.19183A>T	19.37:g.9068263T>A	ENSP00000381008:p.Thr6395Ser						p.T6395S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19387	-			6397			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19183A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.929	0.355416	0.11239	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	2.36	-4.72	0.03269	.	.	.	.	.	T	0.02649	0.0080	L	0.48642	1.525	.	.	.	B	0.23540	0.087	B	0.20384	0.029	T	0.40664	-0.9551	8	0.87932	D	0	.	3.6231	0.08103	0.4301:0.0:0.3351:0.2347	.	6395	B5ME49	.	S	6395	ENSP00000381008:T6395S	ENSP00000381008:T6395S	T	-	1	0	MUC16	8929263	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.632000	0.00409	-1.445000	0.01948	0.149000	0.16113	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	67	0	0	0	0	11	67				
MUC16	94025	broad.mit.edu	37	19	9083129	9083129	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9083129C>T	ENST00000397910.4	-	1	8889	c.8686G>A	c.(8686-8688)Gag>Aag	p.E2896K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2897	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGGGACCTCAGAAAACTCA	0.507																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8686-8688)GAG>AAG		mucin 16							74.0	67.0	69.0					19																	9083129		1893	4126	6019	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083129C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8686G>A	19.37:g.9083129C>T	ENSP00000381008:p.Glu2896Lys						p.E2896K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8890	-			2897			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8686G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.308	0.242234	0.10077	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	0.773	0.773	0.18516	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.37943	0.261	T	0.47674	-0.9099	8	0.87932	D	0	.	4.823	0.13400	0.0:1.0:0.0:0.0	.	2896	B5ME49	.	K	2896	ENSP00000381008:E2896K	ENSP00000381008:E2896K	E	-	1	0	MUC16	8944129	0.001000	0.12720	0.001000	0.08648	0.102000	0.19082	0.091000	0.15046	0.680000	0.31366	0.313000	0.20887	GAG		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	25	0	0	0	0	5	25				
OR7D2	162998	broad.mit.edu	37	19	9297146	9297146	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:9297146C>G	ENST00000344248.2	+	1	868	c.689C>G	c.(688-690)tCa>tGa	p.S230*		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	230					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						AAGATGTCCTCATCTGGGGGA	0.463																																						uc002mkz.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(688-690)TCA>TGA		olfactory receptor, family 7, subfamily D,							98.0	85.0	89.0					19																	9297146		2203	4300	6503	SO:0001587	stop_gained	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297146C>G	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.689C>G	19.37:g.9297146C>G	ENSP00000345563:p.Ser230*						p.S230*	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	877	+			230			Cytoplasmic (Potential).		Q6IFJ7|Q8N133	Nonsense_Mutation	SNP	ENST00000344248.2	37	c.689C>G	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915642	0.73098	.	.	ENSG00000188000	ENST00000344248	.	.	.	2.21	2.21	0.28008	.	0.000000	0.33834	U	0.004506	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.9872	0.53155	0.0:1.0:0.0:0.0	.	.	.	.	X	230	.	ENSP00000345563:S230X	S	+	2	0	OR7D2	9158146	0.190000	0.23276	0.009000	0.14445	0.030000	0.12068	2.881000	0.48538	1.583000	0.49898	0.511000	0.50034	TCA		0.463	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			8	58	0	0	0	0	8	58				
DNM2	1785	broad.mit.edu	37	19	10893674	10893674	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:10893674G>C	ENST00000355667.6	+	6	807	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000389253.4_Missense_Mutation_p.E243Q|DNM2_ENST00000585892.1_Missense_Mutation_p.E243Q|DNM2_ENST00000408974.4_Missense_Mutation_p.E243Q|DNM2_ENST00000359692.6_Missense_Mutation_p.E243Q|DNM2_ENST00000314646.5_Missense_Mutation_p.E243Q	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	243	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGGATATTGAGGGCAAGAA	0.622			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NA		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(727-729)GAG>CAG		dynamin 2 isoform 2							92.0	65.0	74.0					19																	10893674		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893674G>C		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.727G>C	19.37:g.10893674G>C	ENSP00000347890:p.Glu243Gln					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.E243Q|DNM2_uc002mpv.1_Missense_Mutation_p.E243Q|DNM2_uc002mpu.1_Missense_Mutation_p.E243Q|DNM2_uc010dxl.1_Missense_Mutation_p.E243Q|DNM2_uc002mpw.2_5'UTR	p.E243Q	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	891	+			243					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.727G>C	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118391	0.56505	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.41	5.41	0.78517	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.048722	0.85682	D	0.000000	T	0.65668	0.2713	N	0.25647	0.755	0.53005	D	0.999968	B;B;B;P	0.36837	0.163;0.226;0.25;0.571	B;B;B;P	0.45577	0.251;0.322;0.351;0.486	T	0.59300	-0.7480	10	0.10111	T	0.7	-5.3677	17.9669	0.89102	0.0:0.0:1.0:0.0	.	243;243;243;243	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	Q	232;243;243;243;243;243	ENSP00000386192:E243Q;ENSP00000347890:E243Q;ENSP00000352721:E243Q;ENSP00000373905:E243Q;ENSP00000313164:E243Q	ENSP00000313164:E243Q	E	+	1	0	DNM2	10754674	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	9.869000	0.99810	2.537000	0.85549	0.563000	0.77884	GAG		0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		6	57	0	0	0	0	6	57				
ZNF563	147837	broad.mit.edu	37	19	12430511	12430511	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12430511C>G	ENST00000293725.5	-	4	533	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	ZNF563_ENST00000595977.1_Missense_Mutation_p.E110Q	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTATGACTTCTTCACACTCA	0.418																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NA																	0					0						c.(328-330)GAA>CAA		zinc finger protein 563							262.0	236.0	245.0					19																	12430511		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430511C>G	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.328G>C	19.37:g.12430511C>G	ENSP00000293725:p.Glu110Gln					ZNF563_uc002mtq.2_Missense_Mutation_p.E110Q	p.E110Q	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			4	566	-			110			C2H2-type 1; degenerate.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.328G>C	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318565	0.23994	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.15139	2.45	0.724	-0.639	0.11497	Zinc finger, C2H2 (1);	.	.	.	.	T	0.22399	0.0540	L	0.31926	0.97	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.931	T	0.14227	-1.0480	9	0.66056	D	0.02	.	2.186	0.03887	0.0:0.3105:0.3256:0.3638	.	110;110	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	Q	110	ENSP00000293725:E110Q	ENSP00000293725:E110Q	E	-	1	0	ZNF563	12291511	0.000000	0.05858	0.029000	0.17559	0.140000	0.21249	0.286000	0.18902	-0.276000	0.09206	0.313000	0.20887	GAA		0.418	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		13	145	0	0	0	0	13	145				
ZNF563	147837	broad.mit.edu	37	19	12432114	12432114	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12432114G>C	ENST00000293725.5	-	3	368	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	ZNF563_ENST00000595977.1_Missense_Mutation_p.Q55E	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	55	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)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTTTTGTACTGATCTTCAGTA	0.299																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.2		NA																	0					0						c.(163-165)CAG>GAG		zinc finger protein 563							74.0	67.0	70.0					19																	12432114		2200	4300	6500	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12432114G>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.163C>G	19.37:g.12432114G>C	ENSP00000293725:p.Gln55Glu					ZNF563_uc002mtq.2_Missense_Mutation_p.Q55E	p.Q55E	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN			3	401	-			55			KRAB.		B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.163C>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	0.518	-0.863302	0.02590	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.00832	5.64	0.715	0.715	0.18186	Krueppel-associated box (3);	.	.	.	.	T	0.00724	0.0024	N	0.25060	0.705	0.09310	N	1	B;B	0.29766	0.256;0.065	B;B	0.22386	0.039;0.015	T	0.48479	-0.9032	8	0.25106	T	0.35	.	.	.	.	.	55;55	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	E	55	ENSP00000293725:Q55E	ENSP00000293725:Q55E	Q	-	1	0	ZNF563	12293114	0.128000	0.22383	0.084000	0.20598	0.035000	0.12851	-0.075000	0.11431	0.660000	0.30964	0.305000	0.20034	CAG		0.299	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		3	27	0	0	0	0	3	27				
ZNF443	10224	broad.mit.edu	37	19	12542690	12542690	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12542690C>A	ENST00000301547.5	-	4	493	c.296G>T	c.(295-297)gGa>gTa	p.G99V	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	99					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGGACCTACTCCAGGAAGAGT	0.413																																						uc002mtu.2		NA																	0				pancreas(1)	1						c.(295-297)GGA>GTA		zinc finger protein 443							110.0	93.0	99.0					19																	12542690		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542690C>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.296G>T	19.37:g.12542690C>A	ENSP00000301547:p.Gly99Val						p.G99V	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	494	-			99						Missense_Mutation	SNP	ENST00000301547.5	37	c.296G>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358290	0.24598	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07688	3.17	1.37	0.301	0.15781	.	.	.	.	.	T	0.20740	0.0499	M	0.93150	3.385	0.09310	N	0.999999	P	0.48640	0.913	P	0.48030	0.564	T	0.09596	-1.0667	9	0.59425	D	0.04	.	5.2259	0.15393	0.0:0.7928:0.0:0.2072	.	99	Q9Y2A4	ZN443_HUMAN	V	99	ENSP00000301547:G99V	ENSP00000301547:G99V	G	-	2	0	ZNF443	12403690	0.002000	0.14202	0.002000	0.10522	0.034000	0.12701	-0.122000	0.10627	0.154000	0.19237	0.461000	0.40582	GGA		0.413	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		9	51	1	0	5.69e-11	1.14e-10	9	51				
RNASEH2A	10535	broad.mit.edu	37	19	12924254	12924254	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:12924254G>T	ENST00000221486.4	+	8	968	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	292					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CCTGGAACGCGGCCTGGAGTC	0.542																																						uc002mvg.1		NA																	0				breast(2)|central_nervous_system(1)	3						c.(874-876)GGC>TGC		ribonuclease H2, large subunit							72.0	63.0	66.0					19																	12924254		2203	4300	6503	SO:0001583	missense	10535				DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12924254G>T	Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.874G>T	19.37:g.12924254G>T	ENSP00000221486:p.Gly292Cys					RNASEH2A_uc002mvf.1_Missense_Mutation_p.G210C	p.G292C	NM_006397	NP_006388	O75792	RNH2A_HUMAN			8	934	+			292					B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	c.874G>T	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	8.211	0.800337	0.16397	.	.	ENSG00000104889	ENST00000221486	D	0.82619	-1.63	4.06	4.06	0.47325	.	0.315444	0.34338	N	0.004059	T	0.72028	0.3410	L	0.33485	1.01	0.35843	D	0.826176	B	0.22146	0.065	B	0.19946	0.027	T	0.72962	-0.4132	10	0.45353	T	0.12	-30.0255	7.8772	0.29601	0.11:0.0:0.89:0.0	.	292	O75792	RNH2A_HUMAN	C	292	ENSP00000221486:G292C	ENSP00000221486:G292C	G	+	1	0	RNASEH2A	12785254	0.769000	0.28531	0.954000	0.39281	0.380000	0.30137	0.878000	0.28126	2.542000	0.85734	0.655000	0.94253	GGC		0.542	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		7	48	1	0	0.00198382	0.00332627	7	48				
CLEC17A	388512	broad.mit.edu	37	19	14710934	14710934	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:14710934C>T	ENST00000417570.1	+	12	872	c.834C>T	c.(832-834)gcC>gcT	p.A278A	CLEC17A_ENST00000397439.2_Silent_p.A261A|CLEC17A_ENST00000547437.1_Silent_p.A278A	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	278	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GGGATGAGGCCCGGATGTTCT	0.527																																						uc010dzn.1		NA																	0					0						c.(832-834)GCC>GCT		SubName: Full=CLEC17A protein;							75.0	73.0	73.0					19																	14710934		1976	4159	6135	SO:0001819	synonymous_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14710934C>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.834C>T	19.37:g.14710934C>T						CLEC17A_uc002mzh.1_Silent_p.A261A|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Intron|CLEC17A_uc010dzo.1_Silent_p.A278A	p.A278A			Q6ZS10	CL17A_HUMAN			12	911	+			278			C-type lectin.|Extracellular (Potential).		A8MX68|B2RTX0|B7ZMM4	Silent	SNP	ENST00000417570.1	37	c.834C>T	CCDS56087.1																																																																																				0.527	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		8	51	0	0	0	0	8	51				
PGLYRP2	114770	broad.mit.edu	37	19	15587077	15587077	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:15587077C>T	ENST00000340880.4	-	2	884	c.404G>A	c.(403-405)cGc>cAc	p.R135H	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.R135H	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	135					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TATGACCCTGCGCCCTTGCAG	0.597																																						uc002nbf.3		NA																	0				ovary(3)	3						c.(403-405)CGC>CAC		peptidoglycan recognition protein 2 precursor							88.0	78.0	81.0					19																	15587077		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587077C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.404G>A	19.37:g.15587077C>T	ENSP00000345968:p.Arg135His					PGLYRP2_uc002nbg.3_Missense_Mutation_p.R135H	p.R135H	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	537	-			135					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.404G>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	9.543	1.113826	0.20795	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04706	3.57;3.57	5.17	-5.78	0.02362	.	1.018370	0.07880	N	0.969361	T	0.02193	0.0068	N	0.11313	0.125	0.09310	N	1	B;B	0.20550	0.046;0.027	B;B	0.13407	0.009;0.004	T	0.47873	-0.9083	10	0.22706	T	0.39	-11.1477	5.8486	0.18679	0.0:0.4441:0.2244:0.3314	.	135;135	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	H	135	ENSP00000345968:R135H;ENSP00000292609:R135H	ENSP00000292609:R135H	R	-	2	0	PGLYRP2	15448077	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.795000	0.04580	-1.302000	0.02335	0.563000	0.77884	CGC		0.597	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		13	67	0	0	0	0	13	67				
NCAN	1463	broad.mit.edu	37	19	19356187	19356187	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:19356187G>A	ENST00000252575.6	+	13	3657	c.3558G>A	c.(3556-3558)gtG>gtA	p.V1186V	NCAN_ENST00000538881.1_Silent_p.V637V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1186	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	ACTGTGTGGTGATGGTGGCGC	0.577																																						uc002nlz.2		NA																	0				ovary(4)	4						c.(3556-3558)GTG>GTA		chondroitin sulfate proteoglycan 3 precursor							142.0	120.0	127.0					19																	19356187		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19356187G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3558G>A	19.37:g.19356187G>A						NCAN_uc002nma.2_Intron	p.V1186V	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		13	3657	+			1186			C-type lectin.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3558G>A	CCDS12397.1																																																																																				0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		13	53	0	0	0	0	13	53				
ZNF43	7594	broad.mit.edu	37	19	21991840	21991840	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:21991840C>T	ENST00000354959.4	-	4	1168	c.999G>A	c.(997-999)aaG>aaA	p.K333K	ZNF43_ENST00000595461.1_Silent_p.K327K|ZNF43_ENST00000598381.1_Silent_p.K327K|ZNF43_ENST00000594012.1_Silent_p.K327K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	333					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)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGAATTCTCTTATGTTTAG	0.388																																						uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(997-999)AAG>AAA		zinc finger protein 43							46.0	49.0	48.0					19																	21991840		2202	4297	6499	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991840C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.999G>A	19.37:g.21991840C>T						ZNF43_uc010ecv.2_Silent_p.K327K|ZNF43_uc002nql.2_Silent_p.K327K|ZNF43_uc002nqm.2_Silent_p.K327K|ZNF43_uc002nqk.2_Silent_p.K263K	p.K333K	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	1129	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	333			C2H2-type 6.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.999G>A	CCDS12413.2																																																																																				0.388	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		11	57	0	0	0	0	11	57				
ZNF208	7757	broad.mit.edu	37	19	22155676	22155676	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:22155676G>C	ENST00000397126.4	-	4	2308	c.2160C>G	c.(2158-2160)ccC>ccG	p.P720P	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	720					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTC	0.373																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1858-1860)CCC>CCG		zinc finger protein 208							42.0	45.0	44.0					19																	22155676		2065	4221	6286	SO:0001819	synonymous_variant	7757							g.chr19:22155676G>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2160C>G	19.37:g.22155676G>C						ZNF208_uc002nqo.1_Intron	p.P620P	NM_007153	NP_009084					5	2009	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1860C>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		16	77	0	0	0	0	16	77				
ZNF99	7652	broad.mit.edu	37	19	22942301	22942301	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:22942301C>G	ENST00000596209.1	-	4	500	c.410G>C	c.(409-411)tGg>tCg	p.W137S	ZNF99_ENST00000397104.3_Missense_Mutation_p.W158S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTAGTTGTCCAACATTGGTT	0.303																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(472-474)TGG>TCG		zinc finger protein 99							90.0	85.0	87.0					19																	22942301		1861	4102	5963	SO:0001583	missense	7652							g.chr19:22942301C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.410G>C	19.37:g.22942301C>G	ENSP00000472969:p.Trp137Ser						p.W158S	NM_001080409	NP_001073878					4	473	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.473G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.705741	0.00719	.	.	ENSG00000213973	ENST00000397104	T	0.34472	1.36	1.18	-0.525	0.11917	.	.	.	.	.	T	0.09642	0.0237	N	0.01048	-1.04	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.27536	-1.0071	9	0.18710	T	0.47	.	2.748	0.05273	0.0:0.4718:0.3036:0.2246	.	158	A8MXY4	ZNF99_HUMAN	S	158	ENSP00000380293:W158S	ENSP00000380293:W158S	W	-	2	0	ZNF99	22734141	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-2.762000	0.00785	-0.592000	0.05851	-0.882000	0.02950	TGG		0.303	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		7	59	0	0	0	0	7	59				
ZNF536	9745	broad.mit.edu	37	19	30936467	30936467	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:30936467G>T	ENST00000355537.3	+	2	2145	c.1998G>T	c.(1996-1998)gtG>gtT	p.V666V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	666					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)					GGCTGCACGTGGGCCTGGATG	0.701																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1996-1998)GTG>GTT		zinc finger protein 536							41.0	46.0	44.0					19																	30936467		2203	4299	6502	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936467G>T		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.1998G>T	19.37:g.30936467G>T						ZNF536_uc010edd.1_Silent_p.V666V	p.V666V	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2136	+	Esophageal squamous(110;0.0834)		666					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1998G>T	CCDS32984.1																																																																																				0.701	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		13	43	1	0	0.00136819	0.00231215	13	43				
SBSN	374897	broad.mit.edu	37	19	36018830	36018830	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:36018830C>T	ENST00000452271.2	-	1	382	c.354G>A	c.(352-354)ggG>ggA	p.G118G	SBSN_ENST00000518157.1_Silent_p.G118G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	118	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGTTGTTGACCCCATGGCCAA	0.572																																						uc002oae.1		NA																	0				ovary(1)	1						c.(352-354)GGG>GGA		suprabasin isoform 2 precursor							203.0	192.0	196.0					19																	36018830		2203	4300	6503	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36018830C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.354G>A	19.37:g.36018830C>T						SBSN_uc002oad.1_Silent_p.G118G	p.G118G	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	424	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		118			Ala/Gly/His-rich.		A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.354G>A	CCDS54253.1																																																																																				0.572	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		10	154	0	0	0	0	10	154				
IGFLR1	79713	broad.mit.edu	37	19	36231339	36231339	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:36231339C>T	ENST00000592537.1	-	3	384	c.284G>A	c.(283-285)gGa>gAa	p.G95E	IGFLR1_ENST00000246532.1_Missense_Mutation_p.G95E|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000587101.1_5'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GGTCACGGCTCCGCCGCCGCA	0.687																																						uc002obc.2		NA																	0					0						c.(283-285)GGA>GAA		transmembrane protein 149 precursor							13.0	15.0	15.0					19																	36231339		2155	4230	6385	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36231339C>T	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.284G>A	19.37:g.36231339C>T	ENSP00000466181:p.Gly95Glu					TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.G95E|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.G175E	p.G95E	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	385	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		95			Extracellular (Potential).		Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.284G>A	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075701	0.94000	.	.	ENSG00000126246	ENST00000246532	D	0.91686	-2.89	4.47	4.47	0.54385	.	0.333597	0.27495	N	0.019115	D	0.93913	0.8052	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	D	0.93378	0.6741	10	0.49607	T	0.09	-4.4376	12.8213	0.57694	0.0:1.0:0.0:0.0	.	95	Q9H665	IGFR1_HUMAN	E	95	ENSP00000246532:G95E	ENSP00000246532:G95E	G	-	2	0	IGFLR1	40923179	0.014000	0.17966	0.018000	0.16275	0.487000	0.33371	2.408000	0.44574	2.494000	0.84150	0.555000	0.69702	GGA		0.687	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		8	28	0	0	0	0	8	28				
ZNF585A	199704	broad.mit.edu	37	19	37643946	37643946	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:37643946C>A	ENST00000356958.4	-	5	1113	c.855G>T	c.(853-855)ttG>ttT	p.L285F	ZNF585A_ENST00000392157.2_Missense_Mutation_p.L230F|ZNF585A_ENST00000355533.2_Missense_Mutation_p.L230F|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.L230F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGTGCAATCAAATGGGTCT	0.433																																						uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(853-855)TTG>TTT		zinc finger protein 585A							236.0	221.0	226.0					19																	37643946		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643946C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.855G>T	19.37:g.37643946C>A	ENSP00000349440:p.Leu285Phe					ZNF585A_uc002ofm.1_Missense_Mutation_p.L230F|ZNF585A_uc002ofn.1_Missense_Mutation_p.L230F	p.L285F	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1086	-			285			C2H2-type 5.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.855G>T		.	.	.	.	.	.	.	.	.	.	C	6.844	0.525018	0.13066	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	3.18	-0.586	0.11694	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29342	U	0.012427	T	0.45438	0.1342	M	0.70903	2.155	0.09310	N	1	P	0.48589	0.912	P	0.48552	0.581	T	0.38564	-0.9655	10	0.62326	D	0.03	.	2.6296	0.04940	0.2133:0.399:0.0:0.3876	.	285	Q6P3V2	Z585A_HUMAN	F	285;230;230;230	ENSP00000349440:L285F;ENSP00000292841:L230F;ENSP00000375998:L230F;ENSP00000347724:L230F	ENSP00000292841:L230F	L	-	3	2	ZNF585A	42335786	0.000000	0.05858	0.971000	0.41717	0.019000	0.09904	-5.789000	0.00098	0.190000	0.20209	-0.258000	0.10820	TTG		0.433	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		45	175	1	0	2.13e-23	4.57e-23	45	175				
SIPA1L3	23094	broad.mit.edu	37	19	38682885	38682885	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38682885G>A	ENST00000222345.6	+	17	5040	c.4531G>A	c.(4531-4533)Gag>Aag	p.E1511K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1511					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCCACCATCGAGGATGACCT	0.582																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4531-4533)GAG>AAG		signal-induced proliferation-associated 1 like							92.0	78.0	83.0					19																	38682885		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38682885G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4531G>A	19.37:g.38682885G>A	ENSP00000222345:p.Glu1511Lys						p.E1511K	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		17	5040	+			1511					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.4531G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727790	0.89390	.	.	ENSG00000105738	ENST00000222345	T	0.35421	1.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	N	0.20845	0.615	0.58432	D	0.999995	D	0.89917	1.0	D	0.69824	0.966	T	0.20538	-1.0272	10	0.17369	T	0.5	-39.0403	17.4876	0.87692	0.0:0.0:1.0:0.0	.	1511	O60292	SI1L3_HUMAN	K	1511	ENSP00000222345:E1511K	ENSP00000222345:E1511K	E	+	1	0	SIPA1L3	43374725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.415000	0.90241	2.409000	0.81822	0.455000	0.32223	GAG		0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		16	41	0	0	0	0	16	41				
SIPA1L3	23094	broad.mit.edu	37	19	38692545	38692545	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38692545G>C	ENST00000222345.6	+	20	5537	c.5028G>C	c.(5026-5028)ctG>ctC	p.L1676L	CTB-102L5.8_ENST00000598146.1_RNA|RN7SL663P_ENST00000578592.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1676					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCCGGCCCTGAGCCCGGACA	0.657																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5026-5028)CTG>CTC		signal-induced proliferation-associated 1 like							60.0	59.0	60.0					19																	38692545		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38692545G>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.5028G>C	19.37:g.38692545G>C							p.L1676L	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		20	5537	+			1676					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.5028G>C	CCDS33007.1																																																																																				0.657	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		4	53	0	0	0	0	4	53				
RASGRP4	115727	broad.mit.edu	37	19	38903644	38903644	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:38903644G>C	ENST00000587738.1	-	12	1532	c.1462C>G	c.(1462-1464)Cag>Gag	p.Q488E	RASGRP4_ENST00000586305.1_Missense_Mutation_p.Q474E|RASGRP4_ENST00000433821.2_Missense_Mutation_p.Q396E|RASGRP4_ENST00000454404.2_Missense_Mutation_p.Q454E|RASGRP4_ENST00000587753.1_Missense_Mutation_p.Q419E|RASGRP4_ENST00000293062.9_Missense_Mutation_p.Q391E|RASGRP4_ENST00000426920.2_Missense_Mutation_p.Q299E			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	488	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGTCCTCCTGAGAGATTGTT	0.542																																						uc002oir.2		NA																	0				pancreas(1)|lung(1)|skin(1)	3						c.(1462-1464)CAG>GAG		RAS guanyl releasing protein 4 isoform a							71.0	73.0	72.0					19																	38903644		1897	4122	6019	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38903644G>C	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1462C>G	19.37:g.38903644G>C	ENSP00000465772:p.Gln488Glu					RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.Q419E|RASGRP4_uc010xub.1_Missense_Mutation_p.Q454E|RASGRP4_uc010xuc.1_Missense_Mutation_p.Q396E|RASGRP4_uc010xud.1_Missense_Mutation_p.Q391E|RASGRP4_uc010xue.1_Missense_Mutation_p.Q299E|RASGRP4_uc010egb.2_Missense_Mutation_p.Q474E	p.Q488E	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		12	1676	-	all_cancers(60;4.21e-06)		488			EF-hand.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.1462C>G	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160560	0.78226	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T	0.66099	-0.19;2.04;2.04	5.82	5.82	0.92795	.	0.616924	0.17567	N	0.169604	T	0.55768	0.1941	L	0.27053	0.805	0.39735	D	0.97166	P;B;B;B;B;B;B	0.43231	0.801;0.125;0.044;0.044;0.044;0.238;0.044	B;B;B;B;B;B;B	0.42625	0.275;0.119;0.024;0.024;0.024;0.393;0.024	T	0.59721	-0.7401	10	0.49607	T	0.09	-5.734	17.5992	0.88021	0.0:0.0:1.0:0.0	.	299;391;396;454;419;474;488	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	E	396;391;299;488;488	ENSP00000411878:Q396E;ENSP00000293062:Q391E;ENSP00000445966:Q299E	ENSP00000293062:Q391E	Q	-	1	0	RASGRP4	43595484	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	7.175000	0.77632	2.757000	0.94681	0.655000	0.94253	CAG		0.542	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		16	75	0	0	0	0	16	75				
MED29	55588	broad.mit.edu	37	19	39879272	39879272	+	5'Flank	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:39879272A>T	ENST00000599213.2	+	0	0				PAF1_ENST00000221265.3_Missense_Mutation_p.L262Q|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Missense_Mutation_p.L252Q|PAF1_ENST00000221266.7_Missense_Mutation_p.L229Q|MED29_ENST00000594368.1_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TTCTACAGGCAGGAAATAGGC	0.527																																						uc002old.2		NA																	0				pancreas(1)	1						c.(784-786)CTG>CAG		Paf1, RNA polymerase II associated factor,							125.0	111.0	116.0					19																	39879272		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879272A>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879272A>T	Exception_encountered					PAF1_uc002ole.1_Missense_Mutation_p.L252Q|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.L262Q	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	960	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		262					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.785T>A		.	.	.	.	.	.	.	.	.	.	A	20.8	4.051697	0.75960	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.25	5.25	0.73442	.	0.256602	0.33327	N	0.005040	T	0.77116	0.4083	M	0.72894	2.215	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.79257	-0.1878	9	0.62326	D	0.03	-12.8771	13.1682	0.59583	1.0:0.0:0.0:0.0	.	229;262	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	Q	262;229;209	.	ENSP00000221265:L262Q	L	-	2	0	PAF1	44571112	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.437000	0.73421	2.204000	0.70986	0.528000	0.53228	CTG		0.527	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		20	73	0	0	0	0	20	73				
FCGBP	8857	broad.mit.edu	37	19	40366446	40366446	+	Silent	SNP	G	G	A	rs375730591		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:40366446G>A	ENST00000221347.6	-	30	13795	c.13788C>T	c.(13786-13788)ttC>ttT	p.F4596F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4596	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGCGCACGAAGCTGTCCC	0.667																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13786-13788)TTC>TTT		Fc fragment of IgG binding protein precursor							39.0	46.0	43.0					19																	40366446		2201	4299	6500	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40366446G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13788C>T	19.37:g.40366446G>A							p.F4596F	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13796	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4596			VWFD 11.		O95784	Silent	SNP	ENST00000221347.6	37	c.13788C>T	CCDS12546.1																																																																																				0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		12	96	0	0	0	0	12	96				
LTBP4	8425	broad.mit.edu	37	19	41114228	41114228	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:41114228C>T	ENST00000308370.7	+	11	1460	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.S450L|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000396819.3_Missense_Mutation_p.S420L	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	487	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCGAGTGTCACTCAGCCAG	0.662																																						uc002ooh.1		NA																	0				central_nervous_system(1)	1						c.(1459-1461)TCA>TTA		latent transforming growth factor beta binding							27.0	32.0	31.0					19																	41114228		2011	4155	6166	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41114228C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1460C>T	19.37:g.41114228C>T	ENSP00000311905:p.Ser487Leu					LTBP4_uc002oog.1_Missense_Mutation_p.S450L|LTBP4_uc002ooi.1_Missense_Mutation_p.S420L|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank	p.S487L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		11	1460	+			487			Pro-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.1460C>T		.	.	.	.	.	.	.	.	.	.	C	14.77	2.635380	0.47049	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	T;T;T	0.80480	-1.38;-1.38;-1.37	5.28	5.28	0.74379	.	0.761961	0.10736	U	0.640016	T	0.68842	0.3045	N	0.11927	0.2	0.33053	D	0.533049	B;B;B	0.17038	0.02;0.008;0.008	B;B;B	0.14578	0.01;0.011;0.011	T	0.66027	-0.6025	10	0.31617	T	0.26	.	15.8109	0.78565	0.0:1.0:0.0:0.0	.	420;487;450	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	L	450;487;420	ENSP00000204005:S450L;ENSP00000311905:S487L;ENSP00000380031:S420L	ENSP00000204005:S450L	S	+	2	0	LTBP4	45806068	0.327000	0.24678	0.803000	0.32268	0.925000	0.55904	1.817000	0.39002	2.455000	0.83008	0.655000	0.94253	TCA		0.662	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		4	22	0	0	0	0	4	22				
MIA	8190	broad.mit.edu	37	19	41281750	41281750	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:41281750C>T	ENST00000263369.3	+	2	387	c.221C>T	c.(220-222)tCc>tTc	p.S74F	RAB4B_ENST00000357052.2_5'Flank|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA_ENST00000594436.1_Missense_Mutation_p.S74F|RAB4B_ENST00000594800.1_5'Flank|MIA_ENST00000597784.1_Missense_Mutation_p.S74F|MIA-RAB4B_ENST00000600729.1_Missense_Mutation_p.S74F	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	74	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TATGTCTTCTCCAAGCTGAAG	0.592																																						uc002opb.3		NA																	0					0						c.(220-222)TCC>TTC		melanoma inhibitory activity precursor							61.0	62.0	62.0					19																	41281750		2203	4300	6503	SO:0001583	missense	8190				cell proliferation	extracellular space	growth factor activity	g.chr19:41281750C>T	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.221C>T	19.37:g.41281750C>T	ENSP00000263369:p.Ser74Phe					MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_RNA|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank	p.S74F	NM_006533	NP_006524	Q16674	MIA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)	2	369	+			74			SH3.		Q6FHV3	Missense_Mutation	SNP	ENST00000263369.3	37	c.221C>T	CCDS12566.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529142	0.85706	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	T	0.80214	-1.35	5.1	5.1	0.69264	Src homology-3 domain (3);Variant SH3 (1);	0.180758	0.34531	U	0.003886	D	0.90021	0.6884	M	0.79926	2.475	0.52099	D	0.999944	D	0.89917	1.0	D	0.83275	0.996	D	0.90906	0.4772	10	0.56958	D	0.05	-5.5303	17.3134	0.87215	0.0:1.0:0.0:0.0	.	74	Q16674	MIA_HUMAN	F	74	ENSP00000263369:S74F	ENSP00000263369:S74F	S	+	2	0	RAB4B	45973590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	2.345000	0.79718	0.561000	0.74099	TCC		0.592	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			11	47	0	0	0	0	11	47				
GRIK5	2901	broad.mit.edu	37	19	42558056	42558056	+	Missense_Mutation	SNP	C	C	T	rs137900269		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:42558056C>T	ENST00000262895.3	-	9	1081	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	GRIK5_ENST00000593562.1_Missense_Mutation_p.R361Q|GRIK5_ENST00000301218.4_Missense_Mutation_p.R361Q	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	361					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GAACTCGACCCGCCCGGTCAG	0.637																																						uc002osj.1		NA																	0					0						c.(1081-1083)CGG>CAG		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)	C	GLN/ARG	1,4405		0,1,2202	65.0	55.0	58.0		1082	5.3	1.0	19	dbSNP_134	58	0,8600		0,0,4300	no	missense	GRIK5	NM_002088.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	361/981	42558056	1,13005	2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42558056C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1082G>A	19.37:g.42558056C>T	ENSP00000262895:p.Arg361Gln					GRIK5_uc010eib.1_Missense_Mutation_p.R280Q	p.R361Q	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			9	1117	-		Prostate(69;0.059)	361			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1082G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155149	0.78114	2.27E-4	0.0	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.21191	2.02;2.02	5.31	5.31	0.75309	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.17959	0.0431	L	0.38175	1.15	0.45867	D	0.998724	B	0.33198	0.401	B	0.21917	0.037	T	0.02424	-1.1161	10	0.44086	T	0.13	.	17.7443	0.88415	0.0:1.0:0.0:0.0	.	361	Q16478	GRIK5_HUMAN	Q	361	ENSP00000262895:R361Q;ENSP00000301218:R361Q	ENSP00000262895:R361Q	R	-	2	0	GRIK5	47249896	0.977000	0.34250	1.000000	0.80357	0.973000	0.67179	2.397000	0.44477	2.477000	0.83638	0.563000	0.77884	CGG		0.637	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			10	25	0	0	0	0	10	25				
ZNF234	10780	broad.mit.edu	37	19	44661807	44661807	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44661807G>A	ENST00000426739.2	+	6	1896	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	ZNF234_ENST00000592437.1_Silent_p.G546G	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	546					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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGAGTGTGGGAAGAGCTTCA	0.483																																						uc002oym.2		NA																	0					0						c.(1636-1638)GGG>GGA		zinc finger protein 234							84.0	91.0	89.0					19																	44661807		2193	4297	6490	SO:0001819	synonymous_variant	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661807G>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1638G>A	19.37:g.44661807G>A						ZNF234_uc002oyl.3_Silent_p.G546G	p.G546G	NM_006630	NP_006621	Q14588	ZN234_HUMAN			6	1945	+		Prostate(69;0.0435)	546			C2H2-type 15.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	ENST00000426739.2	37	c.1638G>A	CCDS46101.1																																																																																				0.483	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			16	88	0	0	0	0	16	88				
ZNF233	353355	broad.mit.edu	37	19	44778176	44778176	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44778176G>A	ENST00000391958.2	+	5	1490	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.E437K|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATATAAATGTGAGGTATGTGA	0.403																																						uc002oyz.1		NA																	0				skin(2)	2						c.(1363-1365)GAG>AAG		zinc finger protein 233							66.0	76.0	72.0					19																	44778176		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778176G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1363G>A	19.37:g.44778176G>A	ENSP00000375820:p.Glu455Lys					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E270K	p.E455K	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	1490	+		Prostate(69;0.0435)|all_neural(266;0.226)	455			C2H2-type 6.		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1363G>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404701	0.42613	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.16597	2.33;3.21	3.99	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	N	0.12637	0.245	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.37957	-0.9683	9	0.33940	T	0.23	1.9625	0.1562	0.00098	0.3014:0.148:0.2485:0.3021	.	455	A6NK53	ZN233_HUMAN	K	437;455;350	ENSP00000334957:E437K;ENSP00000375820:E455K	ENSP00000280305:E350K	E	+	1	0	ZNF233	49470016	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	-5.406000	0.00125	-0.020000	0.14032	-0.192000	0.12808	GAG		0.403	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		14	67	0	0	0	0	14	67				
ZNF285	26974	broad.mit.edu	37	19	44892232	44892232	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:44892232G>T	ENST00000330997.4	-	4	239	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.Q59K|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q66K	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	59	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)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCCTTTGCCTGAAGATTCAAA	0.398																																						uc002ozd.3		NA																	0				ovary(2)|skin(2)	4						c.(175-177)CAG>AAG		zinc finger protein 285							77.0	81.0	80.0					19																	44892232		2200	4299	6499	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44892232G>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.175C>A	19.37:g.44892232G>T	ENSP00000333595:p.Gln59Lys					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.Q66K	p.Q59K	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	262	-			59			KRAB.		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.175C>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505332	0.44558	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06768	3.26	2.72	1.65	0.23941	Krueppel-associated box (2);	.	.	.	.	T	0.06645	0.0170	L	0.31926	0.97	0.09310	N	1	P;P	0.51933	0.949;0.949	P;P	0.46825	0.528;0.528	T	0.08764	-1.0706	9	0.06494	T	0.89	.	5.8539	0.18708	0.1648:0.0:0.8352:0.0	.	83;59	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	K	82;59	ENSP00000333595:Q59K	ENSP00000333595:Q59K	Q	-	1	0	ZNF285	49584072	0.002000	0.14202	0.172000	0.22920	0.374000	0.29953	0.067000	0.14510	0.443000	0.26582	0.454000	0.30748	CAG		0.398	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		11	72	1	0	6.4e-05	0.000113193	11	72				
ZNF296	162979	broad.mit.edu	37	19	45575215	45575215	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:45575215C>T	ENST00000303809.2	-	3	1286	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	358					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GTTCTTTGTTCCGTGGTGATG	0.652																																						uc002pao.2		NA																	0					0						c.(1072-1074)GAA>AAA		zinc finger protein 296							91.0	91.0	91.0					19																	45575215		2203	4300	6503	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575215C>T	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.1072G>A	19.37:g.45575215C>T	ENSP00000302770:p.Glu358Lys						p.E358K	NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN			3	1129	-			358						Missense_Mutation	SNP	ENST00000303809.2	37	c.1072G>A	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	C	1.940	-0.443869	0.04604	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.04862	3.54	5.51	3.27	0.37495	.	0.424754	0.19995	N	0.101471	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32348	-0.9910	10	0.72032	D	0.01	-4.6935	8.7857	0.34818	0.0:0.7637:0.1521:0.0843	.	358	Q8WUU4	ZN296_HUMAN	K	358;334	ENSP00000302770:E358K	ENSP00000302770:E358K	E	-	1	0	ZNF296	50267055	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.384000	0.20668	1.322000	0.45245	0.563000	0.77884	GAA		0.652	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		12	149	0	0	0	0	12	149				
SLC8A2	6543	broad.mit.edu	37	19	47969076	47969076	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:47969076C>T	ENST00000236877.6	-	2	980	c.585G>A	c.(583-585)ctG>ctA	p.L195L	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	195					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGAAGACTCTCAGGTGCTTGA	0.552																																						uc002pgx.2		NA																	0				skin(3)|ovary(1)	4						c.(583-585)CTG>CTA		solute carrier family 8 member 2 precursor							69.0	46.0	54.0					19																	47969076		2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969076C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.585G>A	19.37:g.47969076C>T						SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.L195L	p.L195L	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	863	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	195			Cytoplasmic (Potential).		B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.585G>A	CCDS33065.1																																																																																				0.552	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			6	31	0	0	0	0	6	31				
TPRX1	284355	broad.mit.edu	37	19	48305449	48305449	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:48305449G>C	ENST00000322175.3	-	2	974	c.819C>G	c.(817-819)gcC>gcG	p.A273A	TPRX1_ENST00000535759.1_Silent_p.A370A|TPRX1_ENST00000543508.1_Silent_p.A263A	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	273	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CTGGGATCTGGGCTGGGCTGG	0.637																																					Esophageal Squamous(123;175 2281 3051 32395)	uc002php.1		NA																	0					0						c.(817-819)GCC>GCG		tetra-peptide repeat homeobox							20.0	21.0	21.0					19																	48305449		2202	4299	6501	SO:0001819	synonymous_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305449G>C		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.819C>G	19.37:g.48305449G>C							p.A273A	NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	2	890	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	273			Gly-rich.		A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	c.819C>G	CCDS33066.1																																																																																				0.637	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		4	18	0	0	0	0	4	18				
SPACA4	171169	broad.mit.edu	37	19	49110596	49110596	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49110596C>G	ENST00000321762.1	+	1	597	c.361C>G	c.(361-363)Cca>Gca	p.P121A	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	121					cell adhesion (GO:0007155)	anchored component of membrane (GO:0031225)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-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;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GCTGCTTCCTCCACGTTTGCT	0.637																																						uc002pjo.2		NA																	0				central_nervous_system(1)	1						c.(361-363)CCA>GCA		sperm acrosomal membrane protein 14 precursor							14.0	12.0	13.0					19																	49110596		2199	4296	6495	SO:0001583	missense	171169				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane		g.chr19:49110596C>G		CCDS12725.1	19q13.33	2013-10-24			ENSG00000177202	ENSG00000177202			16441	protein-coding gene	gene with protein product		609932					Standard	NM_133498		Approved	SAMP14	uc002pjo.3	Q8TDM5	OTTHUMG00000183316	ENST00000321762.1:c.361C>G	19.37:g.49110596C>G	ENSP00000312774:p.Pro121Ala					FAM83E_uc002pjn.2_Intron	p.P121A	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	597	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	121						Missense_Mutation	SNP	ENST00000321762.1	37	c.361C>G	CCDS12725.1	.	.	.	.	.	.	.	.	.	.	C	1.463	-0.561775	0.03939	.	.	ENSG00000177202	ENST00000321762	.	.	.	5.12	0.431	0.16523	.	6.109080	0.00357	N	0.000030	T	0.27349	0.0671	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14755	-1.0461	9	0.35671	T	0.21	8.9744	5.7467	0.18124	0.0:0.528:0.3017:0.1702	.	121	Q8TDM5	SACA4_HUMAN	A	121	.	ENSP00000312774:P121A	P	+	1	0	SPACA4	53802408	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.117000	0.15583	0.026000	0.15269	-1.584000	0.00852	CCA		0.637	SPACA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466149.1	NM_133498		5	4	0	0	0	0	5	4				
RUVBL2	10856	broad.mit.edu	37	19	49514288	49514288	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49514288G>C	ENST00000595090.1	+	10	1284	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	RUVBL2_ENST00000601968.1_Missense_Mutation_p.E229Q|RUVBL2_ENST00000413176.2_Missense_Mutation_p.E229Q	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	274					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGAAGTCCGTGAGCAGATCAA	0.627																																						uc002plr.1		NA																	0					0						c.(820-822)GAG>CAG		RuvB-like 2							40.0	46.0	44.0					19																	49514288		2122	4254	6376	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49514288G>C	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.820G>C	19.37:g.49514288G>C	ENSP00000473172:p.Glu274Gln					RUVBL2_uc002plq.1_Missense_Mutation_p.E229Q|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.E229Q|RUVBL2_uc010yac.1_Missense_Mutation_p.E229Q	p.E274Q	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	10	833	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	274					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.820G>C	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486062	0.26686	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.45276	0.9	4.76	3.71	0.42584	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.48218	1.51	0.54753	D	0.999989	B;B	0.24043	0.096;0.025	B;B	0.27170	0.077;0.033	T	0.09840	-1.0656	10	0.18276	T	0.48	-38.1289	11.4165	0.49956	0.0895:0.0:0.9105:0.0	.	274;240	Q9Y230;B3KNL2	RUVB2_HUMAN;.	Q	274;229	ENSP00000413890:E229Q	ENSP00000221413:E274Q	E	+	1	0	RUVBL2	54206100	1.000000	0.71417	0.856000	0.33681	0.288000	0.27193	6.854000	0.75440	1.354000	0.45846	0.655000	0.94253	GAG		0.627	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			7	52	0	0	0	0	7	52				
CCDC155	147872	broad.mit.edu	37	19	49912474	49912474	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:49912474G>A	ENST00000447857.3	+	14	1285	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	360						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGGCCCAGCTGAGAAGAGTGG	0.632																																						uc002pnm.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1078-1080)CTG>CTA		coiled-coil domain containing 155							47.0	53.0	51.0					19																	49912474		2015	4176	6191	SO:0001819	synonymous_variant	147872					integral to membrane	calcium ion binding	g.chr19:49912474G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1080G>A	19.37:g.49912474G>A						CCDC155_uc010emx.1_Silent_p.L333L	p.L360L	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			14	1254	+			360					Q96MC3	Silent	SNP	ENST00000447857.3	37	c.1080G>A	CCDS46140.1																																																																																				0.632	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		5	19	0	0	0	0	5	19				
ZNF473	25888	broad.mit.edu	37	19	50549315	50549315	+	Silent	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:50549315A>C	ENST00000595661.1	+	6	2110	c.1615A>C	c.(1615-1617)Aga>Cga	p.R539R	ZNF473_ENST00000391821.2_Silent_p.R539R|ZNF473_ENST00000270617.3_Silent_p.R539R|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.R527R|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	539	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTTCACGCCAGAGAAAAACA	0.443																																						uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1615-1617)AGA>CGA		zinc finger protein 473							75.0	73.0	74.0					19																	50549315		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549315A>C	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1615A>C	19.37:g.50549315A>C						ZNF473_uc002prm.2_Silent_p.R539R|ZNF473_uc010ybo.1_Silent_p.R527R	p.R539R	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1852	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	539			Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.1615A>C	CCDS33077.1																																																																																				0.443	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		14	49	0	0	0	0	14	49				
ACPT	93650	broad.mit.edu	37	19	51293713	51293713	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:51293713C>T	ENST00000270593.1	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L	ACPT_ENST00000270594.3_Silent_p.L14L|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	14						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGACCTCTCctgctgctgc	0.711																																						uc002pta.1		NA																	0					0						c.(40-42)CTC>CTT		testicular acid phosphatase precursor							16.0	14.0	15.0					19																	51293713		2189	4270	6459	SO:0001819	synonymous_variant	93650					integral to membrane	acid phosphatase activity	g.chr19:51293713C>T	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.42C>T	19.37:g.51293713C>T							p.L14L	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	42	+		all_neural(266;0.057)	14					C0H3P7|Q9BZG3|Q9BZG4	Silent	SNP	ENST00000270593.1	37	c.42C>T	CCDS12802.1																																																																																				0.711	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		3	3	0	0	0	0	3	3				
SIGLEC12	89858	broad.mit.edu	37	19	51994940	51994940	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:51994940C>A	ENST00000291707.3	-	8	1798	c.1743G>T	c.(1741-1743)caG>caT	p.Q581H	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Q463H	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	581					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGATGGCCTCCTGTTCCTGTG	0.582																																						uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(1741-1743)CAG>CAT		sialic acid binding immunoglobulin-like							117.0	102.0	107.0					19																	51994940		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:51994940C>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1743G>T	19.37:g.51994940C>A	ENSP00000291707:p.Gln581His					SIGLEC12_uc002pww.1_Missense_Mutation_p.Q463H|SIGLEC12_uc010eoy.1_Missense_Mutation_p.Q308H	p.Q581H	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1799	-		all_neural(266;0.0199)	581			Cytoplasmic (Potential).		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1743G>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	6.888	0.533348	0.13188	.	.	ENSG00000254521	ENST00000291707	T	0.06608	3.28	2.79	-0.897	0.10553	.	.	.	.	.	T	0.08492	0.0211	M	0.77103	2.36	0.09310	N	1	B;B	0.25719	0.003;0.132	B;B	0.25405	0.005;0.06	T	0.34279	-0.9835	9	0.72032	D	0.01	.	3.0888	0.06286	0.0:0.4766:0.2326:0.2908	.	581;463	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	H	581	ENSP00000291707:Q581H	ENSP00000291707:Q581H	Q	-	3	2	SIGLEC12	56686752	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.318000	0.08050	-0.209000	0.10156	-0.259000	0.10710	CAG		0.582	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		24	100	1	0	3.08e-08	5.93e-08	24	100				
ZNF808	388558	broad.mit.edu	37	19	53058026	53058026	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:53058026A>G	ENST00000359798.4	+	5	2037	c.1857A>G	c.(1855-1857)ggA>ggG	p.G619G		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	619					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCATACTGGAGAGAAACCAT	0.398																																						uc010epq.1		NA																	0					0						c.(1855-1857)GGA>GGG		zinc finger protein 808							51.0	55.0	54.0					19																	53058026		2192	4293	6485	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058026A>G	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1857A>G	19.37:g.53058026A>G						ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.G619G	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2034	+			619					Q68CN7	Silent	SNP	ENST00000359798.4	37	c.1857A>G	CCDS46167.1																																																																																				0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		18	63	0	0	0	0	18	63				
ZNF347	84671	broad.mit.edu	37	19	53643887	53643887	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:53643887T>G	ENST00000334197.7	-	5	2262	c.2194A>C	c.(2194-2196)Act>Cct	p.T732P	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.T733P|ZNF347_ENST00000452676.2_Missense_Mutation_p.T733P	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	732					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTTTTTCCAGTATGGATTGCC	0.433																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NA																	0					0						c.(2194-2196)ACT>CCT		zinc finger protein 347							166.0	154.0	158.0					19																	53643887		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643887T>G	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2194A>C	19.37:g.53643887T>G	ENSP00000334146:p.Thr732Pro					ZNF347_uc010eql.1_Missense_Mutation_p.T733P|ZNF347_uc002qbc.1_Missense_Mutation_p.T733P	p.T732P	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2263	-			732					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2194A>C	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.265883	0.40095	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.25749	1.78;1.78	2.72	1.69	0.24217	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44222	0.1283	M	0.82433	2.59	0.09310	N	1	P;D	0.59767	0.909;0.986	P;P	0.59825	0.751;0.864	T	0.24548	-1.0157	9	0.72032	D	0.01	.	5.3099	0.15825	0.0:0.2629:0.0:0.7371	.	733;732	G5E9N4;Q96SE7	.;ZN347_HUMAN	P	732;733	ENSP00000334146:T732P;ENSP00000405218:T733P	ENSP00000334146:T732P	T	-	1	0	ZNF347	58335699	0.031000	0.19500	0.001000	0.08648	0.006000	0.05464	0.149000	0.16243	0.291000	0.22468	0.533000	0.62120	ACT		0.433	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		35	123	0	0	0	0	35	123				
NLRP12	91662	broad.mit.edu	37	19	54313208	54313208	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54313208C>T	ENST00000324134.6	-	3	1873	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	NLRP12_ENST00000391775.3_Missense_Mutation_p.E569K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E569K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E569K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E569K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E569K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E569K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E569K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	569					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGGTCTCCTCGTTCAGGAGT	0.572																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1705-1707)GAG>AAG		NLR family, pyrin domain containing 12 isoform							84.0	80.0	81.0					19																	54313208		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313208C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1705G>A	19.37:g.54313208C>T	ENSP00000319377:p.Glu569Lys					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.E569K|NLRP12_uc002qcj.3_Missense_Mutation_p.E569K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E569K	p.E569K	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1925	-	Ovarian(34;0.19)		569					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1705G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	9.806	1.181952	0.21787	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	4.05	1.77	0.24775	.	0.201204	0.24407	N	0.038789	T	0.77805	0.4185	L	0.49513	1.565	0.80722	D	1	B;B;B;B	0.16166	0.016;0.004;0.004;0.005	B;B;B;B	0.10450	0.005;0.003;0.003;0.003	T	0.69007	-0.5259	10	0.52906	T	0.07	.	5.9746	0.19371	0.0:0.697:0.1923:0.1107	.	569;569;569;569	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	569	ENSP00000319377:E569K;ENSP00000438030:E569K;ENSP00000340473:E569K;ENSP00000346231:E569K;ENSP00000375655:E569K;ENSP00000375653:E569K;ENSP00000375652:E569K	ENSP00000319377:E569K	E	-	1	0	NLRP12	59005020	0.000000	0.05858	0.009000	0.14445	0.328000	0.28507	-0.158000	0.10070	0.274000	0.22072	0.485000	0.47835	GAG		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		25	72	0	0	0	0	25	72				
LILRB2	10288	broad.mit.edu	37	19	54782234	54782234	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54782234C>G	ENST00000391749.4	-	7	1409	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	LILRB2_ENST00000314446.5_Missense_Mutation_p.E380Q|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.E380Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.E264Q|LILRB2_ENST00000391748.1_Missense_Mutation_p.E380Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	380	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGGGAATTCAGCCTGGTAC	0.577																																						uc002qfb.2		NA																	0				skin(1)	1						c.(1138-1140)GAA>CAA		leukocyte immunoglobulin-like receptor,							156.0	153.0	154.0					19																	54782234		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782234C>G	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1138G>C	19.37:g.54782234C>G	ENSP00000375629:p.Glu380Gln					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.E380Q|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.E380Q|LILRB2_uc010yet.1_Missense_Mutation_p.E264Q|LILRB2_uc010yeu.1_RNA	p.E380Q	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1404	-	Ovarian(34;0.19)		380			Extracellular (Potential).|Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1138G>C	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875331	0.33162	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.03152	4.03;4.03;4.03;4.03;4.03	1.61	-2.94	0.05581	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.644780	0.04379	N	0.360413	T	0.08935	0.0221	L	0.49571	1.57	0.09310	N	1	P;D;P	0.56287	0.874;0.975;0.771	P;P;P	0.61722	0.734;0.893;0.449	T	0.27088	-1.0084	10	0.44086	T	0.13	.	2.7586	0.05300	0.0:0.3952:0.2503:0.3545	.	380;397;380	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	380;380;380;380;264	ENSP00000375628:E380Q;ENSP00000319960:E380Q;ENSP00000375629:E380Q;ENSP00000375626:E380Q;ENSP00000410117:E264Q	ENSP00000319960:E380Q	E	-	1	0	LILRB2	59474046	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-1.511000	0.02260	-0.524000	0.06400	0.289000	0.19496	GAA		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			26	188	0	0	0	0	26	188				
UBE2S	27338	broad.mit.edu	37	19	55915773	55915773	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:55915773G>A	ENST00000264552.9	-	3	412	c.225C>T	c.(223-225)ccC>ccT	p.P75P	UBE2S_ENST00000589978.1_Intron|UBE2S_ENST00000592570.1_5'Flank	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	75					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		AGTAGCCCTTGGGTGGGGAGG	0.617																																						uc002qkx.1		NA																	0					0						c.(223-225)CCC>CCT		ubiquitin-conjugating enzyme E2S							35.0	36.0	35.0					19																	55915773		2203	4293	6496	SO:0001819	synonymous_variant	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55915773G>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.225C>T	19.37:g.55915773G>A							p.P75P	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	3	593	-	Breast(117;0.155)		75					Q9BTC1	Silent	SNP	ENST00000264552.9	37	c.225C>T	CCDS33114.1																																																																																				0.617	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		5	20	0	0	0	0	5	20				
NLRP9	338321	broad.mit.edu	37	19	56244612	56244612	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:56244612C>G	ENST00000332836.2	-	2	612	c.585G>C	c.(583-585)gaG>gaC	p.E195D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	195	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTAAGCTGGTCTCTGCGATAC	0.458																																						uc002qly.2		NA																	0				skin(4)|ovary(2)|breast(1)	7						c.(583-585)GAG>GAC		NLR family, pyrin domain containing 9							48.0	40.0	43.0					19																	56244612		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244612C>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.585G>C	19.37:g.56244612C>G	ENSP00000331857:p.Glu195Asp						p.E195D	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	613	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	195			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.585G>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	8.801	0.932980	0.18131	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.79033	-1.23	2.63	-0.803	0.10886	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.59224	0.2178	L	0.27053	0.805	0.09310	N	1	B	0.18013	0.025	B	0.21360	0.034	T	0.40590	-0.9555	9	0.21540	T	0.41	.	4.4432	0.11584	0.0:0.5708:0.1886:0.2406	.	195	Q7RTR0	NALP9_HUMAN	D	195	ENSP00000331857:E195D	ENSP00000331857:E195D	E	-	3	2	NLRP9	60936424	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	-0.774000	0.04684	-0.063000	0.13065	-0.151000	0.13558	GAG		0.458	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		7	28	0	0	0	0	7	28				
NLRP11	204801	broad.mit.edu	37	19	56300718	56300718	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:56300718A>G	ENST00000589093.1	-	8	2654	c.2561T>C	c.(2560-2562)aTa>aCa	p.I854T	NLRP11_ENST00000360133.3_Missense_Mutation_p.I800T|NLRP11_ENST00000443188.1_Missense_Mutation_p.I854T|NLRP11_ENST00000592953.1_Missense_Mutation_p.I755T|NLRP11_ENST00000589824.2_Missense_Mutation_p.I800T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	854							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGCAATAACTATGGCAATATA	0.423																																						uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2560-2562)ATA>ACA		NLR family, pyrin domain containing 11							129.0	135.0	133.0					19																	56300718		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56300718A>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2561T>C	19.37:g.56300718A>G	ENSP00000466285:p.Ile854Thr					NLRP11_uc002qlz.2_Missense_Mutation_p.I701T|NLRP11_uc002qmb.2_Missense_Mutation_p.I755T|NLRP11_uc002qmc.2_RNA	p.I854T	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	10	3272	-		Colorectal(82;0.0002)	854					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2561T>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.378151	0.01204	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.35973	1.28;1.28	2.92	-4.47	0.03525	.	.	.	.	.	T	0.08268	0.0206	N	0.00750	-1.22	0.09310	N	1	B;B	0.16802	0.011;0.019	B;B	0.24541	0.014;0.054	T	0.26849	-1.0091	9	0.18276	T	0.48	.	0.1843	0.00127	0.2464:0.168:0.2456:0.34	.	854;800	P59045;P59045-2	NAL11_HUMAN;.	T	854;800	ENSP00000409898:I854T;ENSP00000353251:I800T	ENSP00000353251:I800T	I	-	2	0	NLRP11	60992530	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.581000	0.05820	-0.812000	0.04363	-0.462000	0.05337	ATA		0.423	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		25	115	0	0	0	0	25	115				
ZNF835	90485	broad.mit.edu	37	19	57176264	57176264	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:57176264C>G	ENST00000537055.2	-	2	534	c.303G>C	c.(301-303)gaG>gaC	p.E101D		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	101					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCCACCTCTCTCCCGCTGGC	0.642																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(367-369)GAG>GAC		zinc finger protein 835							46.0	56.0	53.0					19																	57176264		2143	4266	6409	SO:0001583	missense	90485							g.chr19:57176264C>G	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.303G>C	19.37:g.57176264C>G	ENSP00000444747:p.Glu101Asp					ZNF835_uc010ygn.1_Missense_Mutation_p.E101D	p.E123D	NM_001005850	NP_001005850					2	369	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.369G>C	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471860	0.26423	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06849	3.25	2.53	0.127	0.14727	.	.	.	.	.	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	1	P	0.41624	0.757	B	0.35278	0.199	T	0.37454	-0.9705	9	0.87932	D	0	.	5.2666	0.15603	0.0:0.7049:0.0:0.2951	.	123	Q9Y2P0	ZN835_HUMAN	D	123;101	ENSP00000444747:E101D	ENSP00000341756:E123D	E	-	3	2	ZNF835	61868076	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.197000	0.17197	-0.019000	0.14055	0.561000	0.74099	GAG		0.642	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		16	45	0	0	0	0	16	45				
ZNF264	9422	broad.mit.edu	37	19	57723646	57723646	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:57723646C>T	ENST00000263095.6	+	4	1595	c.1181C>T	c.(1180-1182)aCt>aTt	p.T394I	ZNF264_ENST00000536056.1_Missense_Mutation_p.T394I	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GTCATCCACACTGGAGAGAAG	0.552																																						uc002qob.2		NA																	0				ovary(2)	2						c.(1180-1182)ACT>ATT		zinc finger protein 264							67.0	66.0	66.0					19																	57723646		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723646C>T	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1181C>T	19.37:g.57723646C>T	ENSP00000263095:p.Thr394Ile						p.T394I	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1594	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	394					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.1181C>T	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644282	0.67244	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.25749	1.78;1.78	2.35	2.35	0.29111	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49081	0.1536	M	0.80183	2.485	0.30174	N	0.801038	D	0.64830	0.994	D	0.64144	0.922	T	0.52102	-0.8620	9	0.72032	D	0.01	.	12.4506	0.55675	0.0:1.0:0.0:0.0	.	394	O43296	ZN264_HUMAN	I	394	ENSP00000263095:T394I;ENSP00000440376:T394I	ENSP00000263095:T394I	T	+	2	0	ZNF264	62415458	0.994000	0.37717	0.971000	0.41717	0.973000	0.67179	3.232000	0.51302	1.644000	0.50603	0.491000	0.48974	ACT		0.552	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			9	56	0	0	0	0	9	56				
ACP1	52	broad.mit.edu	37	2	271881	271881	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:271881C>T	ENST00000272065.5	+	2	152	c.59C>T	c.(58-60)tCa>tTa	p.S20L	ACP1_ENST00000439645.2_Missense_Mutation_p.S20L|ACP1_ENST00000407983.3_Missense_Mutation_p.S20L|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000405233.1_Missense_Mutation_p.S20L|ACP1_ENST00000272067.6_Missense_Mutation_p.S20L	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	20				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	ATTTGTCGATCACCCATTGCA	0.448																																						uc002qwg.2		NA																	0				skin(1)	1						c.(58-60)TCA>TTA		acid phosphatase 1, soluble isoform b							124.0	127.0	126.0					2																	271881		2203	4300	6503	SO:0001583	missense	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:271881C>T	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.59C>T	2.37:g.271881C>T	ENSP00000272065:p.Ser20Leu					ACP1_uc002qwd.2_Missense_Mutation_p.S20L|ACP1_uc002qwe.3_RNA|ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Missense_Mutation_p.S20L	p.S20L	NM_007099	NP_009030	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	2	155	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	20	CLGNICRS -> PARREAAR (in Ref. 5; AAB27085).				A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation	SNP	ENST00000272065.5	37	c.59C>T	CCDS1639.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459537	0.84317	.	.	ENSG00000143727	ENST00000272067;ENST00000272065;ENST00000407983;ENST00000439645;ENST00000405233;ENST00000449425	T;T;T;T;T	0.60672	0.7;0.7;0.17;0.7;0.7	5.63	4.73	0.59995	Phosphotyrosine protein phosphatase I superfamily (3);	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91656	0.5338	10	0.87932	D	0	-4.0541	14.5531	0.68081	0.0:0.8526:0.1474:0.0	.	20;20;20	P24666-2;P24666;B5MCC7	.;PPAC_HUMAN;.	L	20	ENSP00000272067:S20L;ENSP00000272065:S20L;ENSP00000385404:S20L;ENSP00000408596:S20L;ENSP00000384307:S20L	ENSP00000272065:S20L	S	+	2	0	ACP1	261881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.590000	0.74085	1.462000	0.47948	0.655000	0.94253	TCA		0.448	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			7	80	0	0	0	0	7	80				
KIDINS220	57498	broad.mit.edu	37	2	8871289	8871289	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:8871289C>G	ENST00000256707.3	-	30	5058	c.4877G>C	c.(4876-4878)cGg>cCg	p.R1626P	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1607P|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1527P|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1607P	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1626					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGGGATTCCCCGCTTTCCGCT	0.483																																						uc002qzc.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4876-4878)CGG>CCG		kinase D-interacting substrate of 220 kDa							75.0	70.0	72.0					2																	8871289		1984	4158	6142	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871289C>G	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4877G>C	2.37:g.8871289C>G	ENSP00000256707:p.Arg1626Pro					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.R1527P|KIDINS220_uc002qzb.2_Missense_Mutation_p.R480P	p.R1626P	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	5059	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1626			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4877G>C	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803893	0.50315	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.73152	-0.72;-0.69;-0.67;-0.69	5.92	4.87	0.63330	.	0.237095	0.42294	D	0.000726	T	0.75095	0.3803	L	0.32530	0.975	0.38784	D	0.954828	P;P;D	0.58620	0.926;0.88;0.983	P;P;P	0.61800	0.894;0.787;0.881	T	0.79070	-0.1954	10	0.87932	D	0	.	15.9862	0.80155	0.0:0.9255:0.0:0.0745	.	1527;1626;480	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	P	1626;1607;1527;1607	ENSP00000256707:R1626P;ENSP00000411849:R1607P;ENSP00000414923:R1527P;ENSP00000418974:R1607P	ENSP00000256707:R1626P	R	-	2	0	KIDINS220	8788740	0.998000	0.40836	0.457000	0.27056	0.332000	0.28634	5.448000	0.66612	2.804000	0.96469	0.655000	0.94253	CGG		0.483	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		8	45	0	0	0	0	8	45				
GEN1	348654	broad.mit.edu	37	2	17954379	17954379	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:17954379G>C	ENST00000381254.2	+	9	1184	c.970G>C	c.(970-972)Gag>Cag	p.E324Q	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E324Q	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	324					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGCTGTTGTGAGGGATTCCC	0.294								Homologous recombination																														uc002rct.2		NA																	0				breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(970-972)GAG>CAG	Homologous_recombination	Gen homolog 1, endonuclease							24.0	28.0	27.0					2																	17954379		2184	4278	6462	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17954379G>C	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.970G>C	2.37:g.17954379G>C	ENSP00000370653:p.Glu324Gln					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E324Q|GEN1_uc002rcu.2_Missense_Mutation_p.E324Q	p.E324Q	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			9	1043	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		324					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.970G>C	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505404	0.26949	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.66460	-0.21;-0.21;1.48	5.25	3.42	0.39159	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.073882	0.52532	D	0.000072	T	0.64670	0.2619	M	0.73598	2.24	0.28869	N	0.895088	B	0.24882	0.113	B	0.24006	0.05	T	0.64635	-0.6361	10	0.62326	D	0.03	-14.4853	10.7365	0.46128	0.072:0.1331:0.795:0.0	.	324	Q17RS7	GEN_HUMAN	Q	324;324;95	ENSP00000318977:E324Q;ENSP00000370653:E324Q;ENSP00000431542:E95Q	ENSP00000318977:E324Q	E	+	1	0	GEN1	17817860	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.901000	0.39838	1.344000	0.45657	0.591000	0.81541	GAG		0.294	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		4	34	0	0	0	0	4	34				
APOB	338	broad.mit.edu	37	2	21231102	21231102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:21231102G>A	ENST00000233242.1	-	26	8765	c.8638C>T	c.(8638-8640)Cag>Tag	p.Q2880*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2880					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGTAAGCTGATTGTTTATC	0.408																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8638-8640)CAG>TAG		apolipoprotein B precursor	Atorvastatin(DB01076)						181.0	178.0	179.0					2																	21231102		2203	4299	6502	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231102G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8638C>T	2.37:g.21231102G>A	ENSP00000233242:p.Gln2880*						p.Q2880*	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8766	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2880					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.8638C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	49	15.519512	0.99836	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.51	4.62	0.57501	.	0.296299	0.24659	N	0.036643	.	.	.	.	.	.	0.35045	D	0.760137	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.544	0.56188	0.0:0.0:0.5495:0.4505	.	.	.	.	X	2880	.	ENSP00000233242:Q2880X	Q	-	1	0	APOB	21084607	1.000000	0.71417	0.009000	0.14445	0.983000	0.72400	5.178000	0.65037	1.303000	0.44873	0.555000	0.69702	CAG		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			17	165	0	0	0	0	17	165				
DNMT3A	1788	broad.mit.edu	37	2	25467409	25467409	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:25467409C>A	ENST00000264709.3	-	14	2004	c.1667G>T	c.(1666-1668)aGg>aTg	p.R556M	DNMT3A_ENST00000321117.5_Splice_Site_p.R556M|DNMT3A_ENST00000380746.4_Splice_Site_p.R367M|DNMT3A_ENST00000402667.1_Splice_Site_p.R333M|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	556	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				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 involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGCCTCACCTGCAGCAGTT	0.652			"""Mis, F, N, S"""		AML																																	uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1666-1668)AGG>ATG		DNA cytosine methyltransferase 3 alpha isoform							107.0	90.0	96.0					2																	25467409		2203	4300	6503	SO:0001630	splice_region_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467409C>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1667+1G>T	2.37:g.25467409C>A						DNMT3A_uc002rgd.2_Missense_Mutation_p.R556M|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R367M	p.R556M	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			14	1924	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		556			PHD-type; atypical.|Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1667G>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649541	0.67358	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.65	4.77	0.60923	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	D	0.88211	0.2890	9	.	.	.	-11.4659	13.7127	0.62678	0.1554:0.8446:0.0:0.0	.	556;367	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	M	367;556;556;333	ENSP00000370122:R367M;ENSP00000324375:R556M;ENSP00000264709:R556M;ENSP00000384237:R333M	.	R	-	2	0	DNMT3A	25320913	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	7.729000	0.84864	1.363000	0.46019	-0.181000	0.13052	AGG		0.652	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	Missense_Mutation	8	41	1	0	1.13e-05	2.04e-05	8	41				
HADHB	3032	broad.mit.edu	37	2	26502173	26502173	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:26502173C>T	ENST00000317799.5	+	9	905	c.801C>T	c.(799-801)ttC>ttT	p.F267F	HADHB_ENST00000537713.1_Silent_p.F252F|HADHB_ENST00000545822.1_Silent_p.F245F|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	267			Missing (in TFP deficiency). {ECO:0000269|PubMed:12754706}.		cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTACCCTTCAAAGTACCAG	0.433																																						uc002rgz.2		NA																	0				ovary(1)|breast(1)	2						c.(799-801)TTC>TTT		mitochondrial trifunctional protein, beta							79.0	76.0	77.0					2																	26502173		2203	4300	6503	SO:0001819	synonymous_variant	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26502173C>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.801C>T	2.37:g.26502173C>T						HADHB_uc010ykv.1_Silent_p.F245F|HADHB_uc010ykw.1_Silent_p.F252F|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Silent_p.F193F	p.F267F	NM_000183	NP_000174	P55084	ECHB_HUMAN			9	1052	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		267		Missing (in TFP deficiency).			B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	ENST00000317799.5	37	c.801C>T	CCDS1722.1																																																																																				0.433	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		6	71	0	0	0	0	6	71				
IFT172	26160	broad.mit.edu	37	2	27670397	27670397	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:27670397C>G	ENST00000260570.3	-	42	4747	c.4644G>C	c.(4642-4644)caG>caC	p.Q1548H		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1548					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)					GTTTGACACTCTGGGCTGCAG	0.498																																						uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(4642-4644)CAG>CAC		selective LIM binding factor homolog							150.0	141.0	144.0					2																	27670397		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27670397C>G	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.4644G>C	2.37:g.27670397C>G	ENSP00000260570:p.Gln1548His					IFT172_uc010ezb.2_RNA	p.Q1548H	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			42	4695	-	Acute lymphoblastic leukemia(172;0.155)		1548					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.4644G>C	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550789	0.45383	.	.	ENSG00000138002	ENST00000260570	T	0.45276	0.9	5.42	4.43	0.53597	.	0.117105	0.64402	D	0.000019	T	0.31544	0.0800	L	0.38531	1.155	0.80722	D	1	B	0.13594	0.008	B	0.16722	0.016	T	0.13361	-1.0512	10	0.48119	T	0.1	-14.9379	8.7511	0.34616	0.0:0.8579:0.0:0.1421	.	1548	Q9UG01	IF172_HUMAN	H	1548	ENSP00000260570:Q1548H	ENSP00000260570:Q1548H	Q	-	3	2	IFT172	27523901	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	1.030000	0.30153	2.558000	0.86282	0.561000	0.74099	CAG		0.498	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		19	190	0	0	0	0	19	190				
C2orf71	388939	broad.mit.edu	37	2	29296154	29296154	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:29296154A>G	ENST00000331664.5	-	1	973	c.974T>C	c.(973-975)cTg>cCg	p.L325P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	325					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TAGCTGCCTCAGAGCCCTCAG	0.577																																						uc002rmt.1		NA																	0				skin(1)	1						c.(973-975)CTG>CCG		hypothetical protein LOC388939							61.0	68.0	66.0					2																	29296154		2181	4274	6455	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29296154A>G		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.974T>C	2.37:g.29296154A>G	ENSP00000332809:p.Leu325Pro						p.L325P	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	974	-			325						Missense_Mutation	SNP	ENST00000331664.5	37	c.974T>C	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771292	0.49680	.	.	ENSG00000179270	ENST00000331664	T	0.31510	1.49	5.51	5.51	0.81932	.	0.182576	0.33938	N	0.004416	T	0.54549	0.1865	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.58346	-0.7652	10	0.87932	D	0	-13.3447	15.6314	0.76912	1.0:0.0:0.0:0.0	.	325	A6NGG8	CB071_HUMAN	P	325	ENSP00000332809:L325P	ENSP00000332809:L325P	L	-	2	0	C2orf71	29149658	1.000000	0.71417	0.996000	0.52242	0.105000	0.19272	5.547000	0.67249	2.094000	0.63399	0.459000	0.35465	CTG		0.577	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		20	89	0	0	0	0	20	89				
BIRC6	57448	broad.mit.edu	37	2	32735635	32735635	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:32735635C>A	ENST00000421745.2	+	53	10414	c.10280C>A	c.(10279-10281)tCt>tAt	p.S3427Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3427					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGGACTCTCTTCTGACTCT	0.343																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10279-10281)TCT>TAT		baculoviral IAP repeat-containing 6							141.0	151.0	148.0					2																	32735635		2203	4299	6502	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32735635C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10280C>A	2.37:g.32735635C>A	ENSP00000393596:p.Ser3427Tyr						p.S3427Y	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			53	10414	+	Acute lymphoblastic leukemia(172;0.155)		3427					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10280C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727525	0.69074	.	.	ENSG00000115760	ENST00000421745	T	0.77750	-1.12	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	L	0.43152	1.355	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.85392	0.1126	10	0.66056	D	0.02	.	17.5599	0.87903	0.0:1.0:0.0:0.0	.	3427	Q9NR09	BIRC6_HUMAN	Y	3427	ENSP00000393596:S3427Y	ENSP00000393596:S3427Y	S	+	2	0	BIRC6	32589139	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.752000	0.85141	2.660000	0.90430	0.655000	0.94253	TCT		0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		13	152	1	0	8.6e-14	1.79e-13	13	152				
BIRC6	57448	broad.mit.edu	37	2	32773002	32773002	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:32773002C>T	ENST00000421745.2	+	64	13030	c.12896C>T	c.(12895-12897)tCt>tTt	p.S4299F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4299					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGAACAGGCTCTACAGCTTCT	0.428																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(12895-12897)TCT>TTT		baculoviral IAP repeat-containing 6							81.0	75.0	77.0					2																	32773002		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32773002C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12896C>T	2.37:g.32773002C>T	ENSP00000393596:p.Ser4299Phe						p.S4299F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			64	13030	+	Acute lymphoblastic leukemia(172;0.155)		4299					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.12896C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990889	0.93106	.	.	ENSG00000115760	ENST00000421745	T	0.80393	-1.37	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.90484	0.7019	M	0.81942	2.565	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.91392	0.5136	10	0.87932	D	0	.	19.2725	0.94016	0.0:1.0:0.0:0.0	.	4299	Q9NR09	BIRC6_HUMAN	F	4299	ENSP00000393596:S4299F	ENSP00000393596:S4299F	S	+	2	0	BIRC6	32626506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.561000	0.86390	0.563000	0.77884	TCT		0.428	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		8	31	0	0	0	0	8	31				
LTBP1	4052	broad.mit.edu	37	2	33482491	33482491	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:33482491C>T	ENST00000404816.2	+	12	2661	c.2308C>T	c.(2308-2310)Cat>Tat	p.H770Y	LTBP1_ENST00000407925.1_Missense_Mutation_p.H444Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H770Y|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000418533.2_Missense_Mutation_p.H444Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.H444Y|LTBP1_ENST00000402934.1_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	770					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAAAGTACTCATCCTCCACC	0.547																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2308-2310)CAT>TAT		latent transforming growth factor beta binding							106.0	88.0	94.0					2																	33482491		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33482491C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2308C>T	2.37:g.33482491C>T	ENSP00000386043:p.His770Tyr					LTBP1_uc002rot.2_Missense_Mutation_p.H444Y|LTBP1_uc002rou.2_Missense_Mutation_p.H444Y|LTBP1_uc002rov.2_Intron|LTBP1_uc010ymz.1_Missense_Mutation_p.H444Y|LTBP1_uc010yna.1_Intron	p.H770Y	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			12	2308	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	770					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2308C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272217	0.40194	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T	0.80393	-1.37;-1.36;-1.3;-1.26;-1.26;1.72;0.38	5.91	5.91	0.95273	.	.	.	.	.	T	0.65396	0.2687	N	0.08118	0	0.80722	D	1	P;P;P;P	0.49090	0.917;0.919;0.898;0.919	P;B;B;P	0.48770	0.589;0.432;0.354;0.515	T	0.66881	-0.5811	9	0.02654	T	1	.	11.2259	0.48884	0.0:0.891:0.0:0.109	.	444;444;444;770	E7EV71;Q14766-2;Q14766-5;Q14766-4	.;.;.;.	Y	770;770;444;444;444;98;87	ENSP00000386043:H770Y;ENSP00000346467:H770Y;ENSP00000374653:H444Y;ENSP00000393057:H444Y;ENSP00000384091:H444Y;ENSP00000415412:H98Y;ENSP00000417591:H87Y	ENSP00000346467:H770Y	H	+	1	0	LTBP1	33335995	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.236000	0.58675	2.793000	0.96121	0.655000	0.94253	CAT		0.547	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		11	43	0	0	0	0	11	43				
RASGRP3	25780	broad.mit.edu	37	2	33752432	33752432	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:33752432G>A	ENST00000403687.3	+	10	1776	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RASGRP3_ENST00000407811.1_Missense_Mutation_p.A346T|RASGRP3_ENST00000402538.3_Missense_Mutation_p.A346T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	346	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCTGCAGAATGCCTCTCACCA	0.468																																						uc002rox.2		NA																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(1036-1038)GCC>ACC		RAS guanyl releasing protein 3 (calcium and							93.0	90.0	91.0					2																	33752432		1986	4168	6154	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33752432G>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1036G>A	2.37:g.33752432G>A	ENSP00000384192:p.Ala346Thr					RASGRP3_uc010ync.1_Missense_Mutation_p.A346T|RASGRP3_uc002roy.2_Missense_Mutation_p.A346T	p.A346T	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			11	1663	+	all_hematologic(175;0.115)		346			Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1036G>A	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860597	0.32884	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.30182	1.54;1.54;1.54	5.74	3.86	0.44501	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.058655	0.64402	D	0.000003	T	0.13970	0.0338	N	0.01729	-0.75	0.45867	D	0.998726	B;B	0.22003	0.063;0.063	B;B	0.26864	0.074;0.074	T	0.08166	-1.0735	10	0.24483	T	0.36	-12.9494	15.0192	0.71617	0.0:0.0:0.7409:0.2591	.	346;346	D6W583;Q8IV61	.;GRP3_HUMAN	T	346	ENSP00000385886:A346T;ENSP00000384192:A346T;ENSP00000383917:A346T	ENSP00000385886:A346T	A	+	1	0	RASGRP3	33605936	0.993000	0.37304	1.000000	0.80357	0.985000	0.73830	2.852000	0.48310	1.394000	0.46624	0.650000	0.86243	GCC		0.468	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		9	29	0	0	0	0	9	29				
LRPPRC	10128	broad.mit.edu	37	2	44209515	44209515	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:44209515C>G	ENST00000260665.7	-	2	265	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	LRPPRC_ENST00000409946.1_Missense_Mutation_p.E70Q|LRPPRC_ENST00000409659.1_Missense_Mutation_p.E70Q	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	70					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTGGACTCCTCTTGAATATCT	0.383																																						uc002rtr.2		NA																	0				ovary(2)|skin(1)	3						c.(208-210)GAG>CAG		leucine-rich PPR motif-containing protein							52.0	57.0	56.0					2																	44209515		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44209515C>G	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.208G>C	2.37:g.44209515C>G	ENSP00000260665:p.Glu70Gln					LRPPRC_uc010yob.1_Intron|LRPPRC_uc010faw.1_Missense_Mutation_p.E44Q	p.E70Q	NM_133259	NP_573566	P42704	LPPRC_HUMAN			2	266	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	70					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.208G>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733099	0.69189	.	.	ENSG00000138095	ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.68331	0.31;0.28;0.28;-0.32	5.25	5.25	0.73442	.	0.058960	0.64402	D	0.000003	T	0.79281	0.4419	L	0.56769	1.78	0.44611	D	0.997584	D;D	0.89917	0.968;1.0	P;D	0.83275	0.663;0.996	T	0.74825	-0.3533	10	0.26408	T	0.33	-4.1237	19.2215	0.93799	0.0:1.0:0.0:0.0	.	44;70	C9JCA9;P42704	.;LPPRC_HUMAN	Q	70;70;70;44	ENSP00000260665:E70Q;ENSP00000386234:E70Q;ENSP00000386562:E70Q;ENSP00000403637:E44Q	ENSP00000260665:E70Q	E	-	1	0	LRPPRC	44063019	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.621000	0.61233	2.603000	0.88011	0.655000	0.94253	GAG		0.383	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		3	67	0	0	0	0	3	67				
PSME4	23198	broad.mit.edu	37	2	54148034	54148034	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:54148034G>C	ENST00000404125.1	-	18	2309	c.2254C>G	c.(2254-2256)Cct>Gct	p.P752A	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	752					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)			GCCTTGATAGGAAAGTATTCA	0.363																																						uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2254-2256)CCT>GCT		proteasome (prosome, macropain) activator							92.0	96.0	94.0					2																	54148034		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.chr2:54148034G>C	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.2254C>G	2.37:g.54148034G>C	ENSP00000384211:p.Pro752Ala					PSME4_uc010yop.1_Missense_Mutation_p.P638A|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.P127A|PSME4_uc010fbv.1_Intron	p.P752A	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		18	2310	-			752					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2254C>G	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734423	0.89482	.	.	ENSG00000068878	ENST00000404125	T	0.22134	1.97	5.38	5.38	0.77491	.	0.051904	0.85682	D	0.000000	T	0.39682	0.1087	M	0.75264	2.295	0.80722	D	1	B;D	0.62365	0.385;0.991	B;P	0.55615	0.226;0.78	T	0.19614	-1.0300	10	0.12430	T	0.62	.	19.1965	0.93691	0.0:0.0:1.0:0.0	.	127;752	Q14997-2;Q14997	.;PSME4_HUMAN	A	752	ENSP00000384211:P752A	ENSP00000384211:P752A	P	-	1	0	PSME4	54001538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.545000	0.85829	0.644000	0.83932	CCT		0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		7	66	0	0	0	0	7	66				
PLEK	5341	broad.mit.edu	37	2	68609701	68609701	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:68609701T>A	ENST00000234313.7	+	4	587	c.408T>A	c.(406-408)acT>acA	p.T136T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	136	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGAAAGACACTGAAAAAGGAA	0.378																																						uc002sen.3		NA																	0				ovary(1)	1						c.(406-408)ACT>ACA		pleckstrin							110.0	115.0	113.0					2																	68609701		2203	4300	6503	SO:0001819	synonymous_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68609701T>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.408T>A	2.37:g.68609701T>A						PLEK_uc010fde.2_Silent_p.T136T	p.T136T	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	4	570	+		Ovarian(717;0.0129)	136			DEP.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.408T>A	CCDS1887.1																																																																																				0.378	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		28	70	0	0	0	0	28	70				
ALMS1	7840	broad.mit.edu	37	2	73718601	73718601	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:73718601A>G	ENST00000264448.6	+	10	9623	c.9512A>G	c.(9511-9513)gAg>gGg	p.E3171G	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3129G|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3171					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCAATCCAGAGGGGACCCCA	0.413																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(9517-9519)GAG>GGG		Alstrom syndrome 1							62.0	60.0	61.0					2																	73718601		1848	4098	5946	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718601A>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9512A>G	2.37:g.73718601A>G	ENSP00000264448:p.Glu3171Gly					ALMS1_uc002sjf.1_Missense_Mutation_p.E3129G|ALMS1_uc002sjg.2_Missense_Mutation_p.E2559G|ALMS1_uc002sjh.1_Missense_Mutation_p.E2559G	p.E3173G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	9629	+			3171					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9518A>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393062	0.62066	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08546	3.08;3.08	4.25	3.06	0.35304	.	0.156225	0.30285	N	0.009976	T	0.17704	0.0425	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74023	0.981;0.982;0.982	T	0.00728	-1.1591	10	0.72032	D	0.01	.	7.0847	0.25252	0.8:0.0:0.0:0.2	.	3171;3129;3171	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	G	3129;3171	ENSP00000386627:E3129G;ENSP00000264448:E3171G	ENSP00000264448:E3171G	E	+	2	0	ALMS1	73572109	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.976000	0.29462	0.936000	0.37367	0.524000	0.50904	GAG		0.413	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		3	57	0	0	0	0	3	57				
ALMS1	7840	broad.mit.edu	37	2	73799886	73799886	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:73799886C>G	ENST00000264448.6	+	16	10990	c.10879C>G	c.(10879-10881)Cga>Gga	p.R3627G	ALMS1_ENST00000409009.1_Missense_Mutation_p.R3585G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3627					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTGGTGGACCGACTTGATCG	0.468																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(10885-10887)CGA>GGA		Alstrom syndrome 1							116.0	117.0	116.0					2																	73799886		1982	4165	6147	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73799886C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10879C>G	2.37:g.73799886C>G	ENSP00000264448:p.Arg3627Gly					ALMS1_uc002sjf.1_Missense_Mutation_p.R3585G|ALMS1_uc002sjg.2_Missense_Mutation_p.R3015G|ALMS1_uc002sjh.1_Missense_Mutation_p.R3015G	p.R3629G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			18	10996	+			3627					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.10885C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221368	0.58560	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.24723	1.84;1.84	5.66	4.77	0.60923	.	0.000000	0.37906	N	0.001895	T	0.42675	0.1213	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.33189	-0.9878	10	0.87932	D	0	.	11.5021	0.50444	0.3256:0.6744:0.0:0.0	.	3627;3585;3627	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	G	3585;3627	ENSP00000386627:R3585G;ENSP00000264448:R3627G	ENSP00000264448:R3627G	R	+	1	2	ALMS1	73653394	0.848000	0.29623	0.894000	0.35097	0.995000	0.86356	1.398000	0.34554	1.360000	0.45960	0.655000	0.94253	CGA		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		16	58	0	0	0	0	16	58				
LRRTM4	80059	broad.mit.edu	37	2	77746095	77746095	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:77746095C>A	ENST00000409093.1	-	3	1236	c.900G>T	c.(898-900)tgG>tgT	p.W300C	LRRTM4_ENST00000409884.1_Missense_Mutation_p.W300C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.W301C|LRRTM4_ENST00000409911.1_Missense_Mutation_p.W301C|LRRTM4_ENST00000409088.3_Missense_Mutation_p.W300C			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	300					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)		TTAATGATATCCACGCATTGA	0.373																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(898-900)TGG>TGT		leucine rich repeat transmembrane neuronal 4							46.0	42.0	43.0					2																	77746095		1858	4111	5969	SO:0001583	missense	80059					integral to membrane		g.chr2:77746095C>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.900G>T	2.37:g.77746095C>A	ENSP00000386357:p.Trp300Cys					LRRTM4_uc002snq.2_Missense_Mutation_p.W300C|LRRTM4_uc002sns.2_Missense_Mutation_p.W300C|LRRTM4_uc002snt.2_Missense_Mutation_p.W301C	p.W300C	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1315	-			300			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.900G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516216	0.44763	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04049	3.72;3.72;3.72;3.72;3.72	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	N	0.16708	0.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.12192	-1.0557	10	0.72032	D	0.01	.	18.6944	0.91594	0.0:1.0:0.0:0.0	.	301;300;300	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	C	301;300;300;300;301	ENSP00000387228:W301C;ENSP00000387297:W300C;ENSP00000386357:W300C;ENSP00000386236:W300C;ENSP00000386286:W301C	ENSP00000386236:W300C	W	-	3	0	LRRTM4	77599603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.999000	0.70665	2.751000	0.94390	0.655000	0.94253	TGG		0.373	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		4	18	1	0	2.56e-06	4.73e-06	4	18				
C2orf68	388969	broad.mit.edu	37	2	85836166	85836166	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:85836166C>G	ENST00000306336.5	-	4	447	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	USP39_ENST00000459775.1_Intron|C2orf68_ENST00000478626.1_5'Flank	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	135										breast(1)|central_nervous_system(1)|endometrium(1)	3						GACACCTTCTCACTCACCTTT	0.577																																						uc002sqc.2		NA																	0				central_nervous_system(1)	1						c.(403-405)GAG>CAG		hypothetical protein LOC388969							90.0	90.0	90.0					2																	85836166		2049	4204	6253	SO:0001583	missense	388969							g.chr2:85836166C>G		CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.403G>C	2.37:g.85836166C>G	ENSP00000304410:p.Glu135Gln					USP39_uc002sqb.2_Intron	p.E135Q	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN			4	475	-			135					B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	ENST00000306336.5	37	c.403G>C	CCDS42704.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837976	0.50951	.	.	ENSG00000168887	ENST00000306336	.	.	.	5.41	5.41	0.78517	.	0.708126	0.14004	N	0.347887	T	0.63200	0.2491	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.60203	-0.7309	9	0.42905	T	0.14	-7.0584	14.5675	0.68188	0.0:1.0:0.0:0.0	.	135	Q2NKX9	CB068_HUMAN	Q	135	.	ENSP00000304410:E135Q	E	-	1	0	C2orf68	85689677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.846000	0.48262	2.826000	0.97356	0.655000	0.94253	GAG		0.577	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1	NM_001013649		5	45	0	0	0	0	5	45				
SMYD1	150572	broad.mit.edu	37	2	88402603	88402603	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:88402603G>C	ENST00000419482.2	+	7	1000	c.915G>C	c.(913-915)atG>atC	p.M305I	SMYD1_ENST00000444564.2_Missense_Mutation_p.M292I|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	305					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGAAGGAGATGATACAATTCT	0.453																																						uc002ssr.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(913-915)ATG>ATC		SET and MYND domain containing 1							105.0	100.0	102.0					2																	88402603		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88402603G>C	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.915G>C	2.37:g.88402603G>C	ENSP00000393453:p.Met305Ile					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.M1I	p.M305I	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			7	917	+			305					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.915G>C	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	8.168	0.790966	0.16258	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.21361	2.01;2.03	5.31	-0.182	0.13287	.	0.447002	0.27245	N	0.020250	T	0.07458	0.0188	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20940	-1.0260	10	0.37606	T	0.19	-6.8298	4.6699	0.12683	0.0664:0.2185:0.3794:0.3357	.	305	Q8NB12	SMYD1_HUMAN	I	305;292;126	ENSP00000393453:M305I;ENSP00000407888:M292I	ENSP00000295833:M126I	M	+	3	0	SMYD1	88183718	0.949000	0.32298	0.888000	0.34837	0.811000	0.45836	0.014000	0.13333	-0.035000	0.13691	0.551000	0.68910	ATG		0.453	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		4	46	0	0	0	0	4	46				
INPP4A	3631	broad.mit.edu	37	2	99180077	99180077	+	Missense_Mutation	SNP	C	C	T	rs369371577		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:99180077C>T	ENST00000523221.1	+	17	2020	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C	INPP4A_ENST00000409851.3_Missense_Mutation_p.R669C|INPP4A_ENST00000074304.5_Missense_Mutation_p.R674C|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.R635C|INPP4A_ENST00000545415.1_Missense_Mutation_p.R635C|INPP4A_ENST00000409016.4_Missense_Mutation_p.R635C			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	674					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCAGTACCGCCGTGACGTGGT	0.622																																						uc002syy.2		NA																	0				kidney(1)	1						c.(2020-2022)CGT>TGT		inositol polyphosphate-4-phosphatase, type 1		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4124		0,0,2062	38.0	45.0	43.0		2020,2005,1903,1903	4.5	1.0	2		43	1,8367		0,1,4183	no	missense,missense,missense,missense	INPP4A	NM_001134224.1,NM_001134225.1,NM_001566.2,NM_004027.2	180,180,180,180	0,1,6245	TT,TC,CC		0.012,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging	674/978,669/973,635/955,635/939	99180077	1,12491	2062	4184	6246	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99180077C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2020C>T	2.37:g.99180077C>T	ENSP00000427722:p.Arg674Cys					INPP4A_uc010yvj.1_Missense_Mutation_p.R635C|INPP4A_uc010yvk.1_Missense_Mutation_p.R635C|INPP4A_uc002syx.2_Missense_Mutation_p.R669C|INPP4A_uc010fik.2_Intron	p.R674C	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			19	2413	+			674					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.2020C>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245388	0.80024	0.0	1.2E-4	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.45	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.999	T	0.72883	-0.4157	10	0.87932	D	0	-19.589	11.1734	0.48584	0.3086:0.6914:0.0:0.0	.	635;635;674;669	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	C	635;669;674;635;635;674	ENSP00000386704:R635C;ENSP00000386777:R669C;ENSP00000074304:R674C;ENSP00000442149:R635C;ENSP00000387294:R635C;ENSP00000427722:R674C	ENSP00000074304:R674C	R	+	1	0	INPP4A	98546509	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.017000	0.57167	2.838000	0.97847	0.655000	0.94253	CGT		0.622	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		5	39	0	0	0	0	5	39				
TGFBRAP1	9392	broad.mit.edu	37	2	105897018	105897018	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:105897018G>A	ENST00000393359.2	-	6	1710	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	TGFBRAP1_ENST00000258449.1_Silent_p.L428L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	428					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GGTAGCTCATGAGGAAGCGTT	0.572																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1282-1284)CTC>CTT		transforming growth factor, beta receptor							162.0	135.0	144.0					2																	105897018		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105897018G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1284C>T	2.37:g.105897018G>A						TGFBRAP1_uc010fjc.2_Silent_p.L198L|TGFBRAP1_uc002tcr.3_Silent_p.L428L	p.L428L	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			6	1368	-			428					A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.1284C>T	CCDS2067.1																																																																																				0.572	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		18	80	0	0	0	0	18	80				
SH3RF3	344558	broad.mit.edu	37	2	109988086	109988086	+	Silent	SNP	G	G	T	rs373361477		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:109988086G>T	ENST00000309415.6	+	3	894	c.894G>T	c.(892-894)gcG>gcT	p.A298A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	298	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGAACTGGGCGGAAGGCATGC	0.577																																						uc010ywt.1		NA																	0				ovary(1)	1						c.(892-894)GCG>GCT		SH3 domain containing ring finger 3							96.0	107.0	104.0					2																	109988086		2162	4285	6447	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:109988086G>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.894G>T	2.37:g.109988086G>T							p.A298A	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			3	894	+			298			SH3 2.		A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.894G>T																																																																																					0.577	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		9	35	1	0	1.77e-08	3.41e-08	9	35				
MYO7B	4648	broad.mit.edu	37	2	128335742	128335742	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:128335742C>T	ENST00000409816.2	+	8	916	c.884C>T	c.(883-885)gCc>gTc	p.A295V	MYO7B_ENST00000428314.1_Missense_Mutation_p.A295V|MYO7B_ENST00000389524.4_Missense_Mutation_p.A295V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	295	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCAACGACGCCAAGGACTAC	0.632																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(883-885)GCC>GTC		myosin VIIB							58.0	65.0	63.0					2																	128335742		2120	4227	6347	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128335742C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.884C>T	2.37:g.128335742C>T	ENSP00000386461:p.Ala295Val						p.A295V	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	9	937	+	Colorectal(110;0.1)		295			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.884C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724168	0.30593	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88124	-2.34;-2.34;-2.34	4.25	3.36	0.38483	Myosin head, motor domain (2);	0.312207	0.30428	N	0.009656	T	0.80613	0.4656	L	0.45051	1.395	0.37286	D	0.908057	B	0.16603	0.018	B	0.20384	0.029	T	0.79422	-0.1810	10	0.51188	T	0.08	.	8.0122	0.30359	0.1607:0.7531:0.0:0.0862	.	295	Q6PIF6	MYO7B_HUMAN	V	295	ENSP00000374175:A295V;ENSP00000415090:A295V;ENSP00000386461:A295V	ENSP00000374175:A295V	A	+	2	0	MYO7B	128052212	0.145000	0.22656	0.955000	0.39395	0.495000	0.33615	1.615000	0.36922	2.365000	0.80145	0.563000	0.77884	GCC		0.632	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		10	20	0	0	0	0	10	20				
AMER3	205147	broad.mit.edu	37	2	131520753	131520753	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:131520753G>C	ENST00000423981.1	+	2	1218	c.1108G>C	c.(1108-1110)Ggc>Cgc	p.G370R	AMER3_ENST00000321420.4_Missense_Mutation_p.G370R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	370					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CATCGACACAGGCACCCCCAA	0.627																																						uc002trw.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1108-1110)GGC>CGC		hypothetical protein LOC205147							61.0	51.0	54.0					2																	131520753		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520753G>C	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1108G>C	2.37:g.131520753G>C	ENSP00000392700:p.Gly370Arg					FAM123C_uc010fmv.2_Missense_Mutation_p.G370R|FAM123C_uc010fms.1_Missense_Mutation_p.G370R|FAM123C_uc010fmt.1_Missense_Mutation_p.G370R|FAM123C_uc010fmu.1_Missense_Mutation_p.G370R	p.G370R	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1298	+	Colorectal(110;0.1)		370					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1108G>C	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834969	0.32421	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18338	2.22;2.22	5.4	1.22	0.21188	.	0.188591	0.36628	N	0.002491	T	0.29491	0.0735	M	0.65975	2.015	0.09310	N	0.999997	D	0.69078	0.997	D	0.70935	0.971	T	0.22591	-1.0212	10	0.11182	T	0.66	.	8.234	0.31614	0.3456:0.0:0.6544:0.0	.	370	Q8N944	F123C_HUMAN	R	370	ENSP00000314914:G370R;ENSP00000392700:G370R	ENSP00000314914:G370R	G	+	1	0	FAM123C	131237223	0.749000	0.28305	0.264000	0.24511	0.242000	0.25591	1.929000	0.40114	0.013000	0.14918	0.561000	0.74099	GGC		0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		6	35	0	0	0	0	6	35				
ZEB2	9839	broad.mit.edu	37	2	145147399	145147399	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:145147399C>T	ENST00000558170.2	-	10	4448	c.3264G>A	c.(3262-3264)cgG>cgA	p.R1088R	ZEB2_ENST00000409487.3_Silent_p.R1088R|ZEB2_ENST00000539609.3_Silent_p.R1064R|ZEB2_ENST00000303660.4_Silent_p.R1088R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1088	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCGCCGCTTCCCGCTCCTCCG	0.592																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(3262-3264)CGG>CGA		zinc finger homeobox 1b							49.0	50.0	50.0					2																	145147399		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147399C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3264G>A	2.37:g.145147399C>T						ZEB2_uc002tvv.2_Silent_p.R1082R|ZEB2_uc010zbm.1_Silent_p.R1059R|ZEB2_uc010fnp.2_Intron	p.R1088R	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	3744	-			1088			Glu-rich (acidic).		A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.3264G>A	CCDS2186.1																																																																																				0.592	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		8	68	0	0	0	0	8	68				
NMI	9111	broad.mit.edu	37	2	152138558	152138558	+	Splice_Site	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:152138558C>T	ENST00000243346.5	-	3	552		c.e3-1			NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor						inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CAATTAGTCCCTTAAAAATAT	0.333																																						uc002txi.2		NA																	0					0						c.e3-1		N-myc and STAT interactor							56.0	55.0	55.0					2																	152138558		2202	4292	6494	SO:0001630	splice_region_variant	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152138558C>T	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.82-1G>A	2.37:g.152138558C>T						NMI_uc010zbx.1_Splice_Site_p.G28_splice|NMI_uc002txj.2_Intron	p.G28_splice	NM_004688	NP_004679	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	3	412	-								B5BU69|Q53TI8|Q9BVE5	Splice_Site	SNP	ENST00000243346.5	37	c.82_splice	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270868	0.40194	.	.	ENSG00000123609	ENST00000243346;ENST00000414946	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.807	0.63238	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NMI	151846804	0.984000	0.35163	0.940000	0.37924	0.037000	0.13140	3.723000	0.54955	2.715000	0.92844	0.655000	0.94253	.		0.333	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688	Intron	5	16	0	0	0	0	5	16				
BAZ2B	29994	broad.mit.edu	37	2	160294955	160294955	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:160294955C>G	ENST00000392783.2	-	8	1647	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	BAZ2B_ENST00000392782.1_Silent_p.V382V|BAZ2B_ENST00000355831.2_Silent_p.V384V|BAZ2B_ENST00000343439.5_Silent_p.V382V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATAAAGGTTTCACATTGGACA	0.393																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(1150-1152)GTG>GTC		bromodomain adjacent to zinc finger domain, 2B							128.0	118.0	121.0					2																	160294955		1841	4094	5935	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160294955C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1152G>C	2.37:g.160294955C>G						BAZ2B_uc002uap.2_Silent_p.V382V|BAZ2B_uc002uas.1_Silent_p.V321V|BAZ2B_uc002uau.1_Silent_p.V382V|BAZ2B_uc002uaq.1_Silent_p.V312V|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Silent_p.V382V	p.V384V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			8	1504	-			384					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.1152G>C	CCDS2209.2																																																																																				0.393	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			22	62	0	0	0	0	22	62				
ITGB6	3694	broad.mit.edu	37	2	160994114	160994114	+	Silent	SNP	C	C	G	rs201873845		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:160994114C>G	ENST00000283249.2	-	10	1728	c.1491G>C	c.(1489-1491)ctG>ctC	p.L497L	ITGB6_ENST00000428609.2_Silent_p.L455L|ITGB6_ENST00000409967.2_Silent_p.L497L|ITGB6_ENST00000409872.1_Silent_p.L497L	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	497	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AATCTGTGCTCAGCATGTCCT	0.602																																						uc002ubh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(1489-1491)CTG>CTC		integrin, beta 6 precursor							73.0	62.0	66.0					2																	160994114		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994114C>G		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1491G>C	2.37:g.160994114C>G						ITGB6_uc010fou.2_Silent_p.L497L|ITGB6_uc010zcq.1_Silent_p.L455L|ITGB6_uc010fov.1_Silent_p.L497L	p.L497L	NM_000888	NP_000879	P18564	ITB6_HUMAN			10	1507	-			497			Extracellular (Potential).|Cysteine-rich tandem repeats.|I.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.1491G>C	CCDS2212.1																																																																																				0.602	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		4	55	0	0	0	0	4	55				
SLC4A10	57282	broad.mit.edu	37	2	162711549	162711549	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:162711549T>C	ENST00000446997.1	+	5	579	c.486T>C	c.(484-486)ctT>ctC	p.L162L	SLC4A10_ENST00000272716.5_Silent_p.L162L|SLC4A10_ENST00000535165.1_Silent_p.L162L|SLC4A10_ENST00000421911.1_Silent_p.L162L|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Silent_p.L173L|SLC4A10_ENST00000415876.2_Silent_p.L162L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	162					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGGCTACTCTTTCATTGCACA	0.388																																						uc002ubx.3		NA																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(484-486)CTT>CTC		solute carrier family 4, sodium bicarbonate							112.0	124.0	120.0					2																	162711549		2198	4300	6498	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162711549T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.486T>C	2.37:g.162711549T>C						SLC4A10_uc010fpa.1_Silent_p.L174L|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.L162L|SLC4A10_uc010zcs.1_Silent_p.L173L	p.L162L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			5	670	+			162			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.486T>C	CCDS54411.1																																																																																				0.388	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		7	50	0	0	0	0	7	50				
DPP4	1803	broad.mit.edu	37	2	162891810	162891810	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:162891810G>C	ENST00000360534.3	-	9	1198	c.638C>G	c.(637-639)gCt>gGt	p.A213G		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	213					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CCACCACAGAGCAGAGTAGGC	0.398																																						uc002ubz.2		NA																	0				ovary(3)	3						c.(637-639)GCT>GGT		dipeptidylpeptidase IV	Sitagliptin(DB01261)						104.0	99.0	101.0					2																	162891810		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162891810G>C	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.638C>G	2.37:g.162891810G>C	ENSP00000353731:p.Ala213Gly					DPP4_uc010fpb.2_5'UTR	p.A213G	NM_001935	NP_001926	P27487	DPP4_HUMAN			9	1199	-			213			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.638C>G	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910888	0.52439	.	.	ENSG00000197635	ENST00000360534	D	0.95482	-3.72	5.78	5.78	0.91487	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.049037	0.85682	D	0.000000	D	0.96873	0.8979	M	0.91038	3.17	0.80722	D	1	B	0.21071	0.051	B	0.30782	0.12	D	0.94567	0.7767	10	0.62326	D	0.03	-22.8623	20.3668	0.98882	0.0:0.0:1.0:0.0	.	213	P27487	DPP4_HUMAN	G	213	ENSP00000353731:A213G	ENSP00000353731:A213G	A	-	2	0	DPP4	162600056	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.645000	0.91049	2.894000	0.99253	0.655000	0.94253	GCT		0.398	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			9	42	0	0	0	0	9	42				
SCN9A	6335	broad.mit.edu	37	2	167159754	167159754	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:167159754C>A	ENST00000409435.1	-	6	746	c.747G>T	c.(745-747)atG>atT	p.M249I	SCN9A_ENST00000303354.6_Missense_Mutation_p.M250I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.M249I|SCN9A_ENST00000375387.4_Missense_Mutation_p.M250I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	249					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGTCAGGATCATGACATCAG	0.393																																						uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(745-747)ATG>ATT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						102.0	99.0	100.0					2																	167159754		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167159754C>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.747G>T	2.37:g.167159754C>A	ENSP00000386330:p.Met249Ile					SCN9A_uc002udr.1_Missense_Mutation_p.M120I|SCN9A_uc002uds.1_Missense_Mutation_p.M120I|SCN9A_uc002udt.1_Missense_Mutation_p.M120I	p.M249I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			7	1088	-			249			Helical; Name=S5 of repeat I; (Potential).|I.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.747G>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760550	0.69763	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98;-4.98	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	L	0.49126	1.545	0.80722	D	1	B;B;B	0.19331	0.004;0.009;0.035	B;B;B	0.35688	0.054;0.208;0.194	D	0.94693	0.7876	10	0.31617	T	0.26	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	249;249;250	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	I	249;250;250;249;114;114	ENSP00000386306:M249I;ENSP00000364536:M250I;ENSP00000304748:M250I;ENSP00000386330:M249I;ENSP00000413212:M114I;ENSP00000393141:M114I	ENSP00000304748:M250I	M	-	3	0	SCN9A	166868000	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.890000	0.99128	0.585000	0.79938	ATG		0.393	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		6	30	1	0	0.00198382	0.00332627	6	30				
ABCB11	8647	broad.mit.edu	37	2	169791840	169791840	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:169791840G>T	ENST00000263817.6	-	23	3034	c.2910C>A	c.(2908-2910)ccC>ccA	p.P970P		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	970	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTGTCTTGAAGGGCTTCTCCA	0.453																																						uc002ueo.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2908-2910)CCC>CCA		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						141.0	137.0	138.0					2																	169791840		1923	4133	6056	SO:0001819	synonymous_variant	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169791840G>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2910C>A	2.37:g.169791840G>T						ABCB11_uc010zda.1_Silent_p.P412P|ABCB11_uc010zdb.1_Silent_p.P446P	p.P970P	NM_003742	NP_003733	O95342	ABCBB_HUMAN			23	3036	-			970			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Silent	SNP	ENST00000263817.6	37	c.2910C>A	CCDS46444.1																																																																																				0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		31	124	1	0	1.75e-13	3.63e-13	31	124				
LRP2	4036	broad.mit.edu	37	2	169989114	169989114	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:169989114G>A	ENST00000263816.3	-	77	13983	c.13698C>T	c.(13696-13698)aaC>aaT	p.N4566N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4566					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTGAAGTTGGGTTTGTCTCTG	0.408																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(13696-13698)AAC>AAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						140.0	134.0	136.0					2																	169989114		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169989114G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13698C>T	2.37:g.169989114G>A							p.N4566N	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	77	13911	-			4566			Cytoplasmic (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.13698C>T	CCDS2232.1																																																																																				0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		23	66	0	0	0	0	23	66				
WIPF1	7456	broad.mit.edu	37	2	175436931	175436931	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:175436931C>A	ENST00000392547.2	-	5	701	c.602G>T	c.(601-603)cGg>cTg	p.R201L	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.R201L|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.R201L|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409891.1_Missense_Mutation_p.R201L|WIPF1_ENST00000359761.3_Missense_Mutation_p.R201L|WIPF1_ENST00000409415.3_Missense_Mutation_p.R201L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	201					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGGGACCCCCGGTTGTGCGG	0.652																																						uc002uiy.2		NA																	0				ovary(1)|skin(1)	2						c.(601-603)CGG>CTG		WAS/WASL interacting protein family, member 1							46.0	54.0	51.0					2																	175436931		2200	4294	6494	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436931C>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.602G>T	2.37:g.175436931C>A	ENSP00000376330:p.Arg201Leu					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R201L|WIPF1_uc010fqt.1_Missense_Mutation_p.R201L|WIPF1_uc002ujc.1_Missense_Mutation_p.R201L|WIPF1_uc002uiz.2_Missense_Mutation_p.R201L|WIPF1_uc002ujb.1_Missense_Mutation_p.R201L|WIPF1_uc010zep.1_Missense_Mutation_p.R201L	p.R201L	NM_003387	NP_003378	O43516	WIPF1_HUMAN			6	934	-			201					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.602G>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326541	0.81690	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.52295	1.42;1.41;1.42;1.42;0.81;0.67	5.02	5.02	0.67125	.	0.072732	0.53938	D	0.000048	T	0.65333	0.2681	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.68943	0.961;0.914;0.961;0.914	T	0.63337	-0.6660	10	0.34782	T	0.22	.	17.9201	0.88963	0.0:1.0:0.0:0.0	.	201;201;201;201	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	L	201	ENSP00000376330:R201L;ENSP00000272746:R201L;ENSP00000352802:R201L;ENSP00000376329:R201L;ENSP00000386431:R201L;ENSP00000387150:R201L	ENSP00000272746:R201L	R	-	2	0	WIPF1	175145177	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	3.813000	0.55636	2.331000	0.79229	0.511000	0.50034	CGG		0.652	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		18	70	1	0	1.28e-07	2.44e-07	18	70				
TTN	7273	broad.mit.edu	37	2	179614079	179614079	+	Intron	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:179614079T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.I4350V|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCCCTGATGGGCTTGCTG	0.423																																						uc002unb.2		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.(13048-13050)ATC>GTC		titin isoform novex-3							92.0	98.0	96.0					2																	179614079		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614079T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3771A>G	2.37:g.179614079T>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.I4350V	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13272	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13048A>G		.	.	.	.	.	.	.	.	.	.	T	0.463	-0.888284	0.02511	.	.	ENSG00000155657	ENST00000360870	T	0.56103	0.48	6.08	-6.3	0.02007	.	.	.	.	.	T	0.20210	0.0486	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23190	-1.0195	9	0.12430	T	0.62	.	6.0658	0.19862	0.0669:0.3194:0.1324:0.4812	.	4350	Q8WZ42-6	.	V	4350	ENSP00000354117:I4350V	ENSP00000354117:I4350V	I	-	1	0	TTN	179322324	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.573000	0.05874	-1.868000	0.01142	-1.989000	0.00450	ATC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	99	0	0	0	0	18	99				
MSTN	2660	broad.mit.edu	37	2	190926956	190926956	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:190926956T>C	ENST00000260950.4	-	1	499	c.367A>G	c.(367-369)Aca>Gca	p.T123A	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	123					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTACACTCTGTAGGCATGGTA	0.398																																						uc002urp.2		NA																	0				lung(1)	1						c.(367-369)ACA>GCA		myostatin precursor							125.0	116.0	119.0					2																	190926956		2203	4299	6502	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190926956T>C	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.367A>G	2.37:g.190926956T>C	ENSP00000260950:p.Thr123Ala						p.T123A	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	500	-			123					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.367A>G	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094646	0.56075	.	.	ENSG00000138379	ENST00000260950	T	0.64618	-0.11	5.55	4.39	0.52855	Transforming growth factor-beta, N-terminal (1);	0.091143	0.85682	N	0.000000	T	0.49406	0.1555	L	0.31752	0.955	0.53688	D	0.999979	B	0.10296	0.003	B	0.15052	0.012	T	0.42515	-0.9447	10	0.44086	T	0.13	-6.2737	11.6007	0.51001	0.0:0.0693:0.0:0.9307	.	123	O14793	GDF8_HUMAN	A	123	ENSP00000260950:T123A	ENSP00000260950:T123A	T	-	1	0	MSTN	190635201	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	2.588000	0.46137	1.116000	0.41820	0.533000	0.62120	ACA		0.398	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		25	54	0	0	0	0	25	54				
MYO1B	4430	broad.mit.edu	37	2	192273886	192273886	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:192273886G>C	ENST00000392318.3	+	26	2995	c.2748G>C	c.(2746-2748)agG>agC	p.R916S	MYO1B_ENST00000339514.4_Missense_Mutation_p.R858S|MYO1B_ENST00000392316.1_Missense_Mutation_p.R887S|MYO1B_ENST00000304164.4_Missense_Mutation_p.R916S|MYO1B_ENST00000439065.2_Missense_Mutation_p.R161S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	916					actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGCTAAAAAGGATTTTCCACT	0.323																																						uc010fsg.2		NA																	0				central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(2746-2748)AGG>AGC		myosin IB isoform 1							83.0	88.0	86.0					2																	192273886		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192273886G>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2748G>C	2.37:g.192273886G>C	ENSP00000376132:p.Arg916Ser					MYO1B_uc002usq.2_Missense_Mutation_p.R858S|MYO1B_uc002usr.2_Missense_Mutation_p.R916S|MYO1B_uc002usu.2_Missense_Mutation_p.R161S|MYO1B_uc002usv.2_Missense_Mutation_p.R32S	p.R916S	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		26	3003	+			916					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2748G>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660000	0.29515	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;D;D;T	0.87179	-2.21;-2.22;-2.22;-2.22;0.28	5.79	1.98	0.26296	.	0.236043	0.50627	D	0.000106	T	0.76528	0.4000	L	0.42245	1.32	0.50171	D	0.999857	P;B;B	0.38922	0.651;0.015;0.011	B;B;B	0.27887	0.084;0.011;0.012	T	0.71813	-0.4479	10	0.33940	T	0.23	.	9.2006	0.37256	0.2813:0.0:0.7187:0.0	.	161;916;858	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	S	858;916;916;887;161	ENSP00000341903:R858S;ENSP00000376132:R916S;ENSP00000306382:R916S;ENSP00000376130:R887S;ENSP00000391442:R161S	ENSP00000306382:R916S	R	+	3	2	MYO1B	191982131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.687000	0.37680	0.798000	0.33994	0.561000	0.74099	AGG		0.323	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		16	74	0	0	0	0	16	74				
DNAH7	56171	broad.mit.edu	37	2	196729351	196729351	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:196729351C>T	ENST00000312428.6	-	41	7128	c.7028G>A	c.(7027-7029)gGa>gAa	p.G2343E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2343	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCACTCCCTCCAACCCCTAC	0.483																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(7027-7029)GGA>GAA		dynein, axonemal, heavy chain 7							87.0	85.0	86.0					2																	196729351		1943	4160	6103	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729351C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7028G>A	2.37:g.196729351C>T	ENSP00000311273:p.Gly2343Glu						p.G2343E	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			41	7129	-			2343			ATP (Potential).|AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7028G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011557	0.54468	.	.	ENSG00000118997	ENST00000312428	T	0.39787	1.06	4.77	4.77	0.60923	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87072	0.2160	10	0.87932	D	0	.	17.5768	0.87952	0.0:1.0:0.0:0.0	.	2343	Q8WXX0	DYH7_HUMAN	E	2343	ENSP00000311273:G2343E	ENSP00000311273:G2343E	G	-	2	0	DNAH7	196437596	1.000000	0.71417	0.804000	0.32291	0.026000	0.11368	7.651000	0.83577	2.489000	0.83994	0.460000	0.39030	GGA		0.483	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	52	0	0	0	0	4	52				
SATB2	23314	broad.mit.edu	37	2	200137230	200137230	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:200137230C>A	ENST00000417098.1	-	11	2722	c.1906G>T	c.(1906-1908)Gta>Tta	p.V636L	SATB2_ENST00000443023.1_Missense_Mutation_p.V577L|SATB2_ENST00000457245.1_Missense_Mutation_p.V636L|SATB2_ENST00000428695.1_Missense_Mutation_p.V518L|SATB2_ENST00000260926.5_Missense_Mutation_p.V636L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	636					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACAGGCCTACATCATGAATA	0.532																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(1906-1908)GTA>TTA		SATB homeobox 2							94.0	88.0	90.0					2																	200137230		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137230C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1906G>T	2.37:g.200137230C>A	ENSP00000401112:p.Val636Leu					SATB2_uc010fsq.1_Missense_Mutation_p.V518L|SATB2_uc002uuz.1_Missense_Mutation_p.V636L|SATB2_uc002uva.1_Missense_Mutation_p.V636L	p.V636L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2723	-			636			Homeobox.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1906G>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693637	0.88735	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.5	5.5	0.81552	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	L	0.32530	0.975	0.80722	D	1	P;D	0.63046	0.92;0.992	D;D	0.74348	0.935;0.983	T	0.82474	-0.0439	10	0.66056	D	0.02	-13.077	19.762	0.96323	0.0:1.0:0.0:0.0	.	518;636	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	L	636;577;636;518;636	ENSP00000401112:V636L;ENSP00000388764:V577L;ENSP00000260926:V636L;ENSP00000388581:V518L;ENSP00000405420:V636L	ENSP00000260926:V636L	V	-	1	0	SATB2	199845475	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	7.776000	0.85560	2.741000	0.93983	0.650000	0.86243	GTA		0.532	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		13	67	1	0	0.00010058	0.000176062	13	67				
ALS2CR11	151254	broad.mit.edu	37	2	202400908	202400908	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:202400908T>G	ENST00000286195.3	-	13	1386	c.1342A>C	c.(1342-1344)Att>Ctt	p.I448L	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.I448L|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.I448L	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	448										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGGTTAGAAATAGTGCACAAT	0.383																																						uc002uye.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1342-1344)ATT>CTT		amyotrophic lateral sclerosis 2 (juvenile)							164.0	153.0	156.0					2																	202400908		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202400908T>G	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1342A>C	2.37:g.202400908T>G	ENSP00000286195:p.Ile448Leu					ALS2CR11_uc002uyf.2_Missense_Mutation_p.I448L|ALS2CR11_uc010fti.2_Intron	p.I448L	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			13	1390	-			448					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.1342A>C	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652740	0.29336	.	.	ENSG00000155754	ENST00000286195;ENST00000439140;ENST00000450242	T;T;T	0.51817	0.71;0.69;1.08	4.84	-3.37	0.04898	.	0.745129	0.11518	N	0.556072	T	0.33235	0.0856	L	0.50333	1.59	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.16289	0.015;0.015	T	0.24693	-1.0153	10	0.27082	T	0.32	.	5.2593	0.15563	0.0:0.3598:0.3127:0.3275	.	448;448	E9PGG4;Q53TS8	.;AL2SA_HUMAN	L	448	ENSP00000286195:I448L;ENSP00000409937:I448L;ENSP00000399016:I448L	ENSP00000286195:I448L	I	-	1	0	ALS2CR11	202109153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.909000	0.04058	-0.427000	0.07350	-0.438000	0.05819	ATT		0.383	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		21	113	0	0	0	0	21	113				
WDR12	55759	broad.mit.edu	37	2	203748374	203748374	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:203748374G>A	ENST00000261015.4	-	11	1828	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TAAAGATCCTGAAATCAGCTG	0.378																																						uc002uzl.2		NA																	0					0						c.(1078-1080)TCA>TTA		WD repeat domain 12 protein							84.0	75.0	78.0					2																	203748374		2203	4300	6503	SO:0001583	missense	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203748374G>A	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.1079C>T	2.37:g.203748374G>A	ENSP00000261015:p.Ser360Leu					WDR12_uc010ftt.2_Missense_Mutation_p.S360L	p.S360L	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			11	1829	-			360			WD 6.|Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000261015.4	37	c.1079C>T	CCDS2356.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653519	0.96724	.	.	ENSG00000138442	ENST00000261015	T	0.72615	-0.67	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89255	0.6663	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91786	0.5439	10	0.87932	D	0	-8.7958	19.6054	0.95580	0.0:0.0:1.0:0.0	.	360;360	Q53T99;Q9GZL7	.;WDR12_HUMAN	L	360	ENSP00000261015:S360L	ENSP00000261015:S360L	S	-	2	0	WDR12	203456619	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.752000	0.98900	2.619000	0.88677	0.549000	0.68633	TCA		0.378	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		6	38	0	0	0	0	6	38				
PTH2R	5746	broad.mit.edu	37	2	209308194	209308194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:209308194G>T	ENST00000272847.2	+	6	844	c.631G>T	c.(631-633)Gag>Tag	p.E211*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	211					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	AAAGGAGCTGGAGTCCCTAAT	0.398																																						uc002vdb.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(631-633)GAG>TAG		parathyroid hormone 2 receptor precursor							146.0	136.0	139.0					2																	209308194		2203	4300	6503	SO:0001587	stop_gained	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308194G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.631G>T	2.37:g.209308194G>T	ENSP00000272847:p.Glu211*					PTH2R_uc010zjb.1_Nonsense_Mutation_p.E222*	p.E211*	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	844	+			211			Extracellular (Potential).		Q8N429	Nonsense_Mutation	SNP	ENST00000272847.2	37	c.631G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008930	0.93346	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.29	1.18	0.20946	.	0.498161	0.15764	N	0.245798	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.5223	0.11964	0.1255:0.2999:0.4789:0.0957	.	.	.	.	X	211	.	ENSP00000272847:E211X	E	+	1	0	PTH2R	209016439	1.000000	0.71417	0.345000	0.25642	0.036000	0.12997	3.114000	0.50383	0.209000	0.20645	-0.353000	0.07706	GAG		0.398	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		12	51	1	0	4.37e-10	8.67e-10	12	51				
VWC2L	402117	broad.mit.edu	37	2	215301378	215301378	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:215301378G>C	ENST00000312504.5	+	3	1218	c.416G>C	c.(415-417)tGt>tCt	p.C139S	VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	139	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGGTGTCGCTGTGAGCCCAGC	0.448																																						uc002vet.2		NA																	0					0						c.(415-417)TGT>TCT		von Willebrand factor C domain-containing							112.0	110.0	111.0					2																	215301378		2020	4166	6186	SO:0001583	missense	402117					extracellular region		g.chr2:215301378G>C	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.416G>C	2.37:g.215301378G>C	ENSP00000308976:p.Cys139Ser					VWC2L_uc010zjl.1_Intron	p.C139S	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			3	546	+			139			VWFC 2.		A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.416G>C	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946484	0.92593	.	.	ENSG00000174453	ENST00000312504	D	0.99474	-5.97	5.98	5.98	0.97165	von Willebrand factor, type C (3);	.	.	.	.	D	0.99711	0.9889	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97784	1.0234	9	0.87932	D	0	-1.9073	20.4581	0.99154	0.0:0.0:1.0:0.0	.	139	B2RUY7	VWC2L_HUMAN	S	139	ENSP00000308976:C139S	ENSP00000308976:C139S	C	+	2	0	VWC2L	215009623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	TGT		0.448	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		13	41	0	0	0	0	13	41				
ABCA12	26154	broad.mit.edu	37	2	215854053	215854053	+	Splice_Site	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:215854053C>T	ENST00000272895.7	-	26	4048	c.3829G>A	c.(3829-3831)Ggg>Agg	p.G1277R	ABCA12_ENST00000389661.4_Splice_Site_p.G959R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1277					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACATTCATACCTGGGAAGACA	0.338																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3829-3831)GGG>AGG		ATP-binding cassette, sub-family A, member 12							54.0	52.0	53.0					2																	215854053		2203	4300	6503	SO:0001630	splice_region_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215854053C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3829+1G>A	2.37:g.215854053C>T						ABCA12_uc002vev.2_Missense_Mutation_p.G959R|ABCA12_uc010zjn.1_Missense_Mutation_p.G204R	p.G1277R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	26	4049	-		Renal(323;0.127)	1277					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3829G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649924	0.87958	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.77358	-1.09;-1.09	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000002	D	0.90157	0.6924	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.91296	0.5063	9	.	.	.	.	18.8943	0.92417	0.0:1.0:0.0:0.0	.	1277;959	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	1277;959	ENSP00000272895:G1277R;ENSP00000374312:G959R	.	G	-	1	0	ABCA12	215562298	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.776000	0.85560	2.550000	0.86006	0.591000	0.81541	GGG		0.338	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Missense_Mutation	5	26	0	0	0	0	5	26				
PECR	55825	broad.mit.edu	37	2	216904001	216904001	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:216904001G>C	ENST00000265322.7	-	8	983	c.909C>G	c.(907-909)ctC>ctG	p.L303L		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	303					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CCTCAGCTCAGAGCTTAGCTT	0.433																																						uc002vft.2		NA																	0					0						c.(907-909)CTC>CTG		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						145.0	141.0	142.0					2																	216904001		2203	4300	6503	SO:0001819	synonymous_variant	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216904001G>C	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.909C>G	2.37:g.216904001G>C						PECR_uc010zjq.1_RNA|PECR_uc002vfr.2_Silent_p.L165L|PECR_uc002vfs.2_Silent_p.L157L	p.L303L	NM_018441	NP_060911	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	977	-		Renal(323;0.0327)	303	Missing: Abolishes localization to peroxisomes.		Microbody targeting signal.		B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Silent	SNP	ENST00000265322.7	37	c.909C>G	CCDS33375.1																																																																																				0.433	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		19	83	0	0	0	0	19	83				
CCDC108	255101	broad.mit.edu	37	2	219873820	219873820	+	Silent	SNP	G	G	A	rs149741043	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:219873820G>A	ENST00000341552.5	-	29	4706	c.4623C>T	c.(4621-4623)gaC>gaT	p.D1541D	CCDC108_ENST00000453220.1_Silent_p.D1541D|CCDC108_ENST00000441968.1_Silent_p.D1541D|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1541						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCTTCTCGTCCTTCCACT	0.547																																						uc002vjl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(4621-4623)GAC>GAT		coiled-coil domain containing 108 isoform 1		G		0,4402		0,0,2201	103.0	75.0	84.0		4623	-10.6	0.0	2	dbSNP_134	84	3,8581	3.0+/-9.4	0,3,4289	no	coding-synonymous	CCDC108	NM_194302.2		0,3,6490	AA,AG,GG		0.0349,0.0,0.0231		1541/1926	219873820	3,12983	2201	4292	6493	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219873820G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4623C>T	2.37:g.219873820G>A							p.D1541D	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	29	4707	-		Renal(207;0.0915)	1541			Potential.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.4623C>T	CCDS2430.2																																																																																				0.547	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		17	57	0	0	0	0	17	57				
KCNJ13	3769	broad.mit.edu	37	2	233635666	233635666	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:233635666G>A	ENST00000233826.3	-	2	546	c.407C>T	c.(406-408)gCc>gTc	p.A136V	GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373563.4_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.A136V|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000452341.2_Intron|KCNJ13_ENST00000409779.1_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	136					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GGCAAGTAAGGCGATTGCACT	0.413																																						uc002vto.2		NA																	0					0						c.(406-408)GCC>GTC		potassium inwardly-rectifying channel J13							99.0	90.0	93.0					2																	233635666		2203	4300	6503	SO:0001583	missense	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635666G>A	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.407C>T	2.37:g.233635666G>A	ENSP00000233826:p.Ala136Val					GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_Intron|KCNJ13_uc002vtp.2_Missense_Mutation_p.A136V	p.A136V	NM_002242	NP_002233	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	1	450	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	136			Helical; Name=M2; (By similarity).		A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	c.407C>T	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.067984	0.20067	.	.	ENSG00000115474	ENST00000233826;ENST00000410029;ENST00000438786	T;T;D	0.92965	1.96;1.96;-3.14	5.6	4.54	0.55810	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.091945	0.85682	D	0.000000	D	0.87896	0.6293	N	0.25825	0.765	0.58432	D	0.999997	B	0.29212	0.237	B	0.35510	0.204	D	0.85687	0.1304	10	0.38643	T	0.18	.	15.3804	0.74651	0.0779:0.0:0.9221:0.0	.	136	O60928	IRK13_HUMAN	V	136;136;56	ENSP00000233826:A136V;ENSP00000386251:A136V;ENSP00000407284:A56V	ENSP00000233826:A136V	A	-	2	0	KCNJ13	233343910	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.731000	0.68554	2.628000	0.89032	0.655000	0.94253	GCC		0.413	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		12	50	0	0	0	0	12	50				
SPP2	6694	broad.mit.edu	37	2	234969088	234969088	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:234969088T>A	ENST00000168148.3	+	4	497	c.409T>A	c.(409-411)Tcc>Acc	p.S137T	SPP2_ENST00000373368.1_Missense_Mutation_p.S137T	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	137					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		CTGCAGCTGGTCCTCCTCCAC	0.562																																						uc002vvk.1		NA																	0					0						c.(409-411)TCC>ACC		secreted phosphoprotein 2, 24kDa precursor							82.0	70.0	74.0					2																	234969088		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234969088T>A		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.409T>A	2.37:g.234969088T>A	ENSP00000168148:p.Ser137Thr					SPP2_uc010fyl.1_Missense_Mutation_p.S57T	p.S137T	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	4	494	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	137					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.409T>A	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112177	0.37242	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.49720	0.77;0.77	5.28	-2.53	0.06326	.	1.240990	0.06795	U	0.787710	T	0.48003	0.1476	M	0.61703	1.905	0.09310	N	0.999993	P	0.37914	0.611	B	0.41036	0.346	T	0.51980	-0.8636	10	0.40728	T	0.16	-8.356	11.5892	0.50935	0.0:0.0885:0.7149:0.1966	.	137	Q13103	SPP24_HUMAN	T	137;137;57	ENSP00000362466:S137T;ENSP00000168148:S137T	ENSP00000168148:S137T	S	+	1	0	SPP2	234633827	0.010000	0.17322	0.373000	0.26003	0.170000	0.22686	-1.044000	0.03532	-0.332000	0.08489	-0.331000	0.08364	TCC		0.562	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		14	54	0	0	0	0	14	54				
KIF1A	547	broad.mit.edu	37	2	241727548	241727548	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:241727548C>T	ENST00000320389.7	-	4	441	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	KIF1A_ENST00000498729.2_Missense_Mutation_p.A95T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	95	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGCCCATAGGCGAAGATGCAC	0.617																																						uc002vzy.2		NA																	0				lung(1)	1						c.(283-285)GCC>ACC		axonal transport of synaptic vesicles							75.0	75.0	75.0					2																	241727548		2202	4300	6502	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241727548C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.283G>A	2.37:g.241727548C>T	ENSP00000322791:p.Ala95Thr					KIF1A_uc010fzk.2_Missense_Mutation_p.A95T|KIF1A_uc002vzz.1_Missense_Mutation_p.A95T	p.A95T	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	4	429	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	95			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.283G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	35	5.460462	0.96240	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.91351	-2.83;-2.83;-2.83	4.79	4.79	0.61399	Kinesin, motor domain (5);	0.000000	0.85682	U	0.000000	D	0.96626	0.8899	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.996;1.0	D	0.97882	1.0292	10	0.87932	D	0	.	17.8287	0.88674	0.0:1.0:0.0:0.0	.	95;95;95	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	T	95	ENSP00000322791:A95T;ENSP00000438388:A95T;ENSP00000384231:A95T	ENSP00000322791:A95T	A	-	1	0	KIF1A	241376221	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.578000	0.82498	2.210000	0.71456	0.655000	0.94253	GCC		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		5	13	0	0	0	0	5	13				
PASK	23178	broad.mit.edu	37	2	242054809	242054809	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:242054809T>C	ENST00000405260.1	-	13	3790	c.3092A>G	c.(3091-3093)aAg>aGg	p.K1031R	PASK_ENST00000544142.1_Missense_Mutation_p.K845R|PASK_ENST00000539818.1_Missense_Mutation_p.K815R|PASK_ENST00000234040.4_Missense_Mutation_p.K1031R|PASK_ENST00000475666.1_5'Flank|PASK_ENST00000403638.3_Missense_Mutation_p.K1031R|PASK_ENST00000358649.4_Missense_Mutation_p.K1031R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1031	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTTCTCCTTCTTAATAAACTT	0.493																																						uc002wao.1		NA																	0				ovary(4)|lung(1)|skin(1)	6						c.(3091-3093)AAG>AGG		PAS domain containing serine/threonine kinase							137.0	128.0	131.0					2																	242054809		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242054809T>C	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3092A>G	2.37:g.242054809T>C	ENSP00000384016:p.Lys1031Arg					PASK_uc010zol.1_Missense_Mutation_p.K845R|PASK_uc010zom.1_Missense_Mutation_p.K996R|PASK_uc010fzl.1_Missense_Mutation_p.K1031R|PASK_uc010zon.1_Missense_Mutation_p.K812R|PASK_uc002wap.2_Missense_Mutation_p.K574R|PASK_uc002waq.2_Missense_Mutation_p.K1031R	p.K1031R	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	13	3184	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1031			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3092A>G	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	T	8.396	0.840782	0.16891	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.24	1.67	0.24075	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.248699	0.28583	N	0.014828	T	0.57213	0.2038	N	0.11724	0.165	0.26704	N	0.971102	B;B;B;D;B	0.71674	0.113;0.092;0.092;0.998;0.113	B;B;B;D;B	0.77004	0.086;0.081;0.081;0.989;0.132	T	0.51608	-0.8684	10	0.10111	T	0.7	.	6.1178	0.20136	0.0:0.4555:0.0:0.5445	.	996;845;1031;1031;1031	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	R	1031;845;1031;1031;815;1031	ENSP00000234040:K1031R;ENSP00000441374:K845R;ENSP00000384016:K1031R;ENSP00000351475:K1031R;ENSP00000443083:K815R;ENSP00000384438:K1031R	ENSP00000234040:K1031R	K	-	2	0	PASK	241703482	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.078000	0.30754	0.839000	0.34971	0.460000	0.39030	AAG		0.493	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		15	48	0	0	0	0	15	48				
SIRPG	55423	broad.mit.edu	37	20	1616920	1616920	+	Missense_Mutation	SNP	C	C	T	rs148726891		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:1616920C>T	ENST00000303415.3	-	3	726	c.662G>A	c.(661-663)cGc>cAc	p.R221H	SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.R221H|SIRPG_ENST00000381580.1_Missense_Mutation_p.R188H|RP11-77C3.3_ENST00000456177.1_RNA|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.R221H	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	221	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GACCTGAGAGCGAACGTCCCA	0.617																																						uc002wfm.1		NA																	0				ovary(1)	1						c.(661-663)CGC>CAC		signal-regulatory protein gamma isoform 1							134.0	119.0	124.0					20																	1616920		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1616920C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.662G>A	20.37:g.1616920C>T	ENSP00000305529:p.Arg221His					SIRPG_uc002wfn.1_Missense_Mutation_p.R221H|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	p.R221H	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			3	727	-			221			Extracellular (Potential).|Ig-like C1-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.662G>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	0.072	-1.199448	0.01581	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.00609	6.24;6.24;6.24;6.24	1.95	-2.91	0.05631	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.067480	0.07196	N	0.856557	T	0.00384	0.0012	N	0.17901	0.54	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.11329	0.005;0.006	T	0.43360	-0.9396	10	0.02654	T	1	.	5.7788	0.18294	0.0:0.3138:0.0:0.6862	.	221;221	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	H	188;221;221;221	ENSP00000370992:R188H;ENSP00000305529:R221H;ENSP00000370995:R221H;ENSP00000216927:R221H	ENSP00000216927:R221H	R	-	2	0	SIRPG	1564920	0.023000	0.18921	0.001000	0.08648	0.040000	0.13550	-0.720000	0.04969	-0.818000	0.04329	0.195000	0.17529	CGC		0.617	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		21	75	0	0	0	0	21	75				
VPS16	64601	broad.mit.edu	37	20	2842527	2842527	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:2842527T>G	ENST00000380445.3	+	10	1048	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	326					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CACCCACGAGTTCCTGCATGA	0.612																																						uc002whe.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(976-978)TTC>GTC		vacuolar protein sorting 16 isoform 1							63.0	58.0	60.0					20																	2842527		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2842527T>G	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.976T>G	20.37:g.2842527T>G	ENSP00000369810:p.Phe326Val					VPS16_uc002whh.2_5'Flank|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Intron|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank|VPS16_uc002whi.2_5'Flank	p.F326V	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			10	1024	+			326					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.976T>G	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.411459	0.62399	.	.	ENSG00000215305	ENST00000380445;ENST00000417508	T	0.55052	0.54	4.82	4.82	0.62117	Vps16, N-terminal (1);	0.055638	0.64402	D	0.000001	T	0.60983	0.2311	M	0.86343	2.81	0.80722	D	1	P	0.43578	0.811	B	0.43838	0.433	T	0.69161	-0.5218	10	0.72032	D	0.01	-18.0185	10.6991	0.45915	0.0:0.0:0.0:1.0	.	326	Q9H269	VPS16_HUMAN	V	326;208	ENSP00000369810:F326V	ENSP00000369810:F326V	F	+	1	0	VPS16	2790527	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.962000	0.40442	2.043000	0.60533	0.528000	0.53228	TTC		0.612	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		10	19	0	0	0	0	10	19				
PLCB4	5332	broad.mit.edu	37	20	9416221	9416221	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:9416221T>G	ENST00000378493.1	+	25	2518	c.2503T>G	c.(2503-2505)Tta>Gta	p.L835V	PLCB4_ENST00000278655.4_Missense_Mutation_p.L835V|PLCB4_ENST00000334005.3_Missense_Mutation_p.L835V|PLCB4_ENST00000378501.2_Missense_Mutation_p.L835V|PLCB4_ENST00000414679.2_Missense_Mutation_p.L847V|PLCB4_ENST00000378473.3_Missense_Mutation_p.L847V|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	835					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGTGGATGCTTTATCAGATCC	0.338																																						uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(2503-2505)TTA>GTA		phospholipase C beta 4 isoform b							89.0	96.0	94.0					20																	9416221		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9416221T>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2503T>G	20.37:g.9416221T>G	ENSP00000367754:p.Leu835Val					PLCB4_uc010gbw.1_Missense_Mutation_p.L835V|PLCB4_uc010gbx.2_Missense_Mutation_p.L847V|PLCB4_uc002wne.2_Missense_Mutation_p.L835V|PLCB4_uc002wnh.2_Missense_Mutation_p.L682V	p.L835V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			27	2639	+			835					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2503T>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577968	0.65878	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.29655	1.71;1.72;1.72;1.72;1.71;1.56	5.98	1.11	0.20524	.	0.000000	0.64402	D	0.000001	T	0.54464	0.1860	M	0.85710	2.77	0.58432	D	0.999998	D;D;P;D	0.89917	1.0;1.0;0.92;1.0	D;D;D;D	0.97110	0.999;0.999;0.909;1.0	T	0.56038	-0.8045	10	0.87932	D	0	.	9.6295	0.39772	0.0:0.2744:0.0:0.7256	.	847;682;835;835	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	835;847;835;835;835;683	ENSP00000334105:L835V;ENSP00000367734:L847V;ENSP00000278655:L835V;ENSP00000367754:L835V;ENSP00000367762:L835V;ENSP00000390616:L683V	ENSP00000278655:L835V	L	+	1	2	PLCB4	9364221	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.117000	0.31234	0.124000	0.18369	-0.280000	0.10049	TTA		0.338	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			11	65	0	0	0	0	11	65				
ITCH	83737	broad.mit.edu	37	20	33068494	33068494	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:33068494G>C	ENST00000262650.6	+	20	2168	c.2032G>C	c.(2032-2034)Gaa>Caa	p.E678Q	ITCH_ENST00000374864.4_Missense_Mutation_p.E637Q|ITCH_ENST00000535650.1_Missense_Mutation_p.E527Q|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	678	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CAAGGATTTAGAATCTATTGA	0.323																																						uc010geu.1		NA																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(2032-2034)GAA>CAA		itchy homolog E3 ubiquitin protein ligase							86.0	89.0	88.0					20																	33068494		2202	4299	6501	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33068494G>C	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2032G>C	20.37:g.33068494G>C	ENSP00000262650:p.Glu678Gln					ITCH_uc002xak.2_Missense_Mutation_p.E637Q|ITCH_uc010zuj.1_Missense_Mutation_p.E527Q	p.E678Q	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			20	2224	+			678			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.2032G>C	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260046	0.95368	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.59224	0.28;0.28;0.28	5.82	5.82	0.92795	HECT (4);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.71871	2.18	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.998	D;D;D	0.80764	0.988;0.994;0.992	T	0.77879	-0.2423	10	0.87932	D	0	.	19.7093	0.96085	0.0:0.0:1.0:0.0	.	589;678;637	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	Q	637;527;678	ENSP00000363998:E637Q;ENSP00000445608:E527Q;ENSP00000262650:E678Q	ENSP00000262650:E678Q	E	+	1	0	ITCH	32532155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.862000	0.99564	2.765000	0.95021	0.650000	0.86243	GAA		0.323	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			18	43	0	0	0	0	18	43				
GGT7	2686	broad.mit.edu	37	20	33440233	33440233	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:33440233C>A	ENST00000336431.5	-	11	1472	c.1428G>T	c.(1426-1428)gtG>gtT	p.V476V	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	476					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCATGATCAGCACCTGGGCAG	0.592																																						uc002xay.2		NA																	0				ovary(1)	1						c.(1426-1428)GTG>GTT		gamma-glutamyltransferase 7							68.0	72.0	71.0					20																	33440233		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33440233C>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1428G>T	20.37:g.33440233C>A						GGT7_uc010gex.2_5'Flank|GGT7_uc002xaz.1_Silent_p.V493V	p.V476V	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			11	1471	-			476			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.1428G>T	CCDS13242.2																																																																																				0.592	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		21	68	1	0	5.35e-11	1.08e-10	21	68				
GDF5	8200	broad.mit.edu	37	20	34022553	34022553	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:34022553C>G	ENST00000374372.1	-	4	1163	c.660G>C	c.(658-660)caG>caC	p.Q220H	GDF5_ENST00000374369.3_Missense_Mutation_p.Q220H|GDF5OS_ENST00000374375.1_Silent_p.L199L			P43026	GDF5_HUMAN	growth differentiation factor 5	220					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)			ACACGTACCTCTGCTTCCTGA	0.612																																						uc002xck.1		NA																	0					0						c.(658-660)CAG>CAC		growth differentiation factor 5 preproprotein							109.0	114.0	112.0					20																	34022553		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.chr20:34022553C>G	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.660G>C	20.37:g.34022553C>G	ENSP00000363492:p.Gln220His					GDF5_uc010gfc.1_Missense_Mutation_p.Q220H|uc002xcj.2_Missense_Mutation_p.L322V|GDF5_uc010zvc.1_Missense_Mutation_p.Q220H	p.Q220H	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		2	979	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		220					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.660G>C	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200585	0.38905	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.65178	-0.14;-0.14	4.86	3.9	0.45041	Transforming growth factor-beta, N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.75332	0.3835	M	0.82323	2.585	0.50039	D	0.999843	B;P	0.52692	0.047;0.955	B;P	0.62560	0.171;0.904	T	0.77451	-0.2583	10	0.66056	D	0.02	.	8.5314	0.33337	0.0:0.771:0.0:0.229	.	220;220	F1T0J1;P43026	.;GDF5_HUMAN	H	220	ENSP00000363489:Q220H;ENSP00000363492:Q220H	ENSP00000363489:Q220H	Q	-	3	2	GDF5	33485967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.041000	0.30291	2.512000	0.84698	0.561000	0.74099	CAG		0.612	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			13	130	0	0	0	0	13	130				
SOGA1	140710	broad.mit.edu	37	20	35441119	35441119	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:35441119G>A	ENST00000357779.3	-	6	2057	c.1731C>T	c.(1729-1731)tcC>tcT	p.S577S	SOGA1_ENST00000237536.4_Silent_p.S815S|SOGA1_ENST00000456801.2_Silent_p.S418S|SOGA1_ENST00000279034.6_Silent_p.S577S			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	577					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGAGGCATAGGAATCATTGT	0.562																																						uc002xgd.1		NA																	0					0						c.(1729-1731)TCC>TCT		hypothetical protein LOC140710 isoform 2							59.0	61.0	61.0					20																	35441119		1960	4157	6117	SO:0001819	synonymous_variant	140710							g.chr20:35441119G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1731C>T	20.37:g.35441119G>A						C20orf117_uc002xge.1_RNA	p.S577S	NM_199181	NP_954650	O94964	K0889_HUMAN			6	2058	-		Myeloproliferative disorder(115;0.00874)	577					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1731C>T																																																																																					0.562	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		6	40	0	0	0	0	6	40				
BPI	671	broad.mit.edu	37	20	36948668	36948668	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:36948668C>A	ENST00000262865.4	+	7	849	c.760C>A	c.(760-762)Cag>Aag	p.Q254K	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	254					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCTGGATGTACAGATGAAGGT	0.483																																						uc002xib.2		NA																	0				ovary(4)	4						c.(760-762)CAG>AAG		bactericidal/permeability-increasing protein							83.0	66.0	72.0					20																	36948668		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36948668C>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.760C>A	20.37:g.36948668C>A	ENSP00000262865:p.Gln254Lys						p.Q254K	NM_001725	NP_001716	P17213	BPI_HUMAN			7	822	+		Myeloproliferative disorder(115;0.00878)	254					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.760C>A	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.885|4.885	0.164443|0.164443	0.09287|0.09287	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.08458|.	3.09|.	4.08|4.08	2.04|2.04	0.26737|0.26737	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	1.192850|.	0.06221|.	N|.	0.686762|.	T|.	0.36193|.	0.0958|.	L|L	0.49350|0.49350	1.555|1.555	0.09310|0.09310	N|N	1|1	B|.	0.22604|.	0.072|.	B|.	0.19391|.	0.025|.	T|.	0.29027|.	-1.0025|.	10|.	0.06365|.	T|.	0.9|.	-0.3556|-0.3556	2.7542|2.7542	0.05288|0.05288	0.1933:0.5173:0.187:0.1023|0.1933:0.5173:0.187:0.1023	.|.	254|.	P17213|.	BPI_HUMAN|.	K|X	254|79	ENSP00000262865:Q254K|.	ENSP00000262865:Q254K|.	Q|Y	+|+	1|3	0|2	BPI|BPI	36382082|36382082	0.000000|0.000000	0.05858|0.05858	0.020000|0.020000	0.16555|0.16555	0.115000|0.115000	0.19883|0.19883	0.171000|0.171000	0.16685|0.16685	0.441000|0.441000	0.26529|0.26529	-0.499000|-0.499000	0.04595|0.04595	CAG|TAC		0.483	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		6	25	1	0	0.00116845	0.0019806	6	25				
SLC32A1	140679	broad.mit.edu	37	20	37356754	37356754	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:37356754C>A	ENST00000217420.1	+	2	1313	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	350					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCGTGCTCAAGGGCCTCT	0.617																																						uc002xjc.2		NA																	0					0						c.(1048-1050)CTC>CTA		solute carrier family 32, member 1	Glycine(DB00145)						71.0	63.0	66.0					20																	37356754		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356754C>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1050C>A	20.37:g.37356754C>A							p.L350L	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1313	+		Myeloproliferative disorder(115;0.00878)	350			Helical; (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.1050C>A	CCDS13307.1																																																																																				0.617	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		8	42	1	0	1.13e-05	2.04e-05	8	42				
ZHX3	23051	broad.mit.edu	37	20	39832463	39832463	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:39832463G>C	ENST00000309060.3	-	4	1509	c.1094C>G	c.(1093-1095)cCt>cGt	p.P365R	ZHX3_ENST00000544979.2_Missense_Mutation_p.P365R|ZHX3_ENST00000540170.1_Missense_Mutation_p.P365R|ZHX3_ENST00000432768.2_Missense_Mutation_p.P365R|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.P365R|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.P365R			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	365	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AATCTCCTCAGGGGACCAGCT	0.517																																						uc002xjs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1093-1095)CCT>CGT		zinc fingers and homeoboxes 3							81.0	77.0	78.0					20																	39832463		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832463G>C	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1094C>G	20.37:g.39832463G>C	ENSP00000312222:p.Pro365Arg					ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.P365R|ZHX3_uc002xjt.1_Missense_Mutation_p.P365R|ZHX3_uc002xju.1_Missense_Mutation_p.P365R|ZHX3_uc002xjv.1_Missense_Mutation_p.P365R|ZHX3_uc002xjw.1_Missense_Mutation_p.P365R|ZHX3_uc010ggg.1_Missense_Mutation_p.P365R	p.P365R	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	1472	-		Myeloproliferative disorder(115;0.00425)	365			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1094C>G	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018665	0.75275	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.49432	0.78;2.17;2.17;1.93;0.78	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.72763	-0.4195	10	0.87932	D	0	-14.9144	20.2422	0.98381	0.0:0.0:1.0:0.0	.	365;365;365	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	R	365;365;365;365;143;365	ENSP00000312222:P365R;ENSP00000362360:P365R;ENSP00000442290:P365R;ENSP00000443783:P365R;ENSP00000415498:P365R	ENSP00000312222:P365R	P	-	2	0	ZHX3	39265877	1.000000	0.71417	0.983000	0.44433	0.999000	0.98932	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	CCT		0.517	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		16	54	0	0	0	0	16	54				
TOX2	84969	broad.mit.edu	37	20	42635314	42635314	+	Missense_Mutation	SNP	G	G	T	rs370265318		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:42635314G>T	ENST00000358131.5	+	3	528	c.320G>T	c.(319-321)gGc>gTc	p.G107V	TOX2_ENST00000341197.4_Missense_Mutation_p.G98V|TOX2_ENST00000372999.1_Missense_Mutation_p.G56V|RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000423191.2_Missense_Mutation_p.G56V	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	107	Required for transcriptional activation. {ECO:0000250}.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTGCCACGGCCTCACCCCC	0.622																																						uc002xlf.3		NA																	0				ovary(1)	1						c.(319-321)GGC>GTC		TOX high mobility group box family member 2							137.0	102.0	114.0					20																	42635314		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635314G>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.320G>T	20.37:g.42635314G>T	ENSP00000350849:p.Gly107Val					TOX2_uc010ggo.2_Missense_Mutation_p.G98V|TOX2_uc002xle.3_Missense_Mutation_p.G56V|TOX2_uc010ggp.2_Missense_Mutation_p.G56V|TOX2_uc002xlg.2_Missense_Mutation_p.G56V	p.G107V	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	337	+		Myeloproliferative disorder(115;0.00452)	107			Required for transcriptional activation (By similarity).		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.320G>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890637	0.52014	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.24	5.24	0.73138	.	0.309579	0.35585	N	0.003103	T	0.42765	0.1217	N	0.22421	0.69	0.80722	D	1	P;B;P;B	0.50066	0.928;0.181;0.931;0.321	P;B;B;B	0.50659	0.647;0.102;0.444;0.136	T	0.43376	-0.9395	10	0.66056	D	0.02	.	17.3939	0.87439	0.0:0.0:1.0:0.0	.	98;56;107;56	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	V	98;56;56;56;107	ENSP00000344724:G98V;ENSP00000396584:G56V;ENSP00000390278:G56V;ENSP00000362090:G56V;ENSP00000350849:G107V	ENSP00000344724:G98V	G	+	2	0	TOX2	42068728	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.611000	0.74183	2.444000	0.82710	0.655000	0.94253	GGC		0.622	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			12	66	1	0	4.37e-10	8.67e-10	12	66				
JPH2	57158	broad.mit.edu	37	20	42743470	42743470	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:42743470C>T	ENST00000372980.3	-	5	2929	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	686					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|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)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATGGCCAGGCCGATGTTCAG	0.637																																						uc002xli.1		NA																	0					0						c.(2056-2058)GGC>GAC		junctophilin 2 isoform 1							126.0	81.0	96.0					20																	42743470		2202	4299	6501	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42743470C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.2057G>A	20.37:g.42743470C>T	ENSP00000362071:p.Gly686Asp						p.G686D	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	2930	-		Myeloproliferative disorder(115;0.0122)	686			Helical; Anchor for type IV membrane protein; (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.2057G>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599447	0.87055	.	.	ENSG00000149596	ENST00000372980	T	0.37752	1.18	4.71	4.71	0.59529	.	0.000000	0.64402	U	0.000001	T	0.58075	0.2097	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62714	-0.6796	10	0.87932	D	0	.	14.5698	0.68203	0.0:1.0:0.0:0.0	.	686	Q9BR39	JPH2_HUMAN	D	686	ENSP00000362071:G686D	ENSP00000362071:G686D	G	-	2	0	JPH2	42176884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.755000	0.68750	2.154000	0.67381	0.655000	0.94253	GGC		0.637	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			4	19	0	0	0	0	4	19				
ZMYND8	23613	broad.mit.edu	37	20	45865143	45865143	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:45865143G>A	ENST00000311275.7	-	16	2976	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L	ZMYND8_ENST00000536340.1_Missense_Mutation_p.S935L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S857L|ZMYND8_ENST00000468376.2_5'Flank|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S862L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S799L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S882L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S908L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S928L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S857L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S908L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S882L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S856L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S776L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	908					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGCGTTGACTGAGGACACAAG	0.587																																						uc002xta.1		NA																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(2722-2724)TCA>TTA		zinc finger, MYND-type containing 8 isoform b							211.0	159.0	177.0					20																	45865143		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45865143G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2723C>T	20.37:g.45865143G>A	ENSP00000312237:p.Ser908Leu					ZMYND8_uc010ghq.1_Missense_Mutation_p.S539L|ZMYND8_uc010ghr.1_Missense_Mutation_p.S837L|ZMYND8_uc002xst.1_Missense_Mutation_p.S790L|ZMYND8_uc002xsu.1_Missense_Mutation_p.S781L|ZMYND8_uc002xsv.1_Missense_Mutation_p.S836L|ZMYND8_uc002xsw.1_Missense_Mutation_p.S614L|ZMYND8_uc002xsx.1_Missense_Mutation_p.S614L|ZMYND8_uc002xsy.1_Missense_Mutation_p.S837L|ZMYND8_uc002xsz.1_Missense_Mutation_p.S799L|ZMYND8_uc010zxy.1_Missense_Mutation_p.S935L|ZMYND8_uc002xtb.1_Missense_Mutation_p.S882L|ZMYND8_uc002xss.2_Missense_Mutation_p.S908L|ZMYND8_uc010zxz.1_Missense_Mutation_p.S776L|ZMYND8_uc002xtc.1_Missense_Mutation_p.S882L|ZMYND8_uc002xtd.1_Missense_Mutation_p.S857L|ZMYND8_uc002xte.1_Missense_Mutation_p.S862L|ZMYND8_uc010zya.1_Missense_Mutation_p.S908L|ZMYND8_uc002xtf.1_Missense_Mutation_p.S928L|ZMYND8_uc002xsr.1_Missense_Mutation_p.S7L	p.S908L	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		16	2977	-			908					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2723C>T		.	.	.	.	.	.	.	.	.	.	G	8.320	0.824059	0.16678	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	D;D;D;D;D;D;D;D;D;D;D	0.89681	-1.71;-1.6;-1.72;-1.6;-1.71;-1.61;-1.61;-2.55;-1.59;-1.7;-1.72	5.74	4.78	0.61160	.	0.446249	0.23321	N	0.049454	D	0.85890	0.5802	L	0.46157	1.445	0.26802	N	0.969186	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24483	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.104;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.27262	0.001;0.001;0.0;0.0;0.001;0.001;0.002;0.002;0.002;0.001;0.002;0.001;0.0;0.078;0.0;0.001	T	0.78404	-0.2217	10	0.49607	T	0.09	-3.7576	13.451	0.61172	0.0733:0.0:0.9267:0.0	.	776;935;857;837;928;862;857;882;882;908;799;857;856;801;810;908	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	L	857;908;776;863;929;882;908;935;908;799;882;857;856	ENSP00000354166:S857L;ENSP00000312237:S908L;ENSP00000392964:S776L;ENSP00000335537:S882L;ENSP00000379577:S908L;ENSP00000439800:S935L;ENSP00000348246:S908L;ENSP00000396725:S799L;ENSP00000418210:S882L;ENSP00000361093:S857L;ENSP00000443086:S856L	ENSP00000262975:S863L	S	-	2	0	ZMYND8	45298550	0.994000	0.37717	0.012000	0.15200	0.007000	0.05969	4.276000	0.58933	1.388000	0.46506	0.655000	0.94253	TCA		0.587	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		11	97	0	0	0	0	11	97				
FAM217B	63939	broad.mit.edu	37	20	58519303	58519303	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:58519303G>A	ENST00000358293.3	+	5	720	c.305G>A	c.(304-306)aGa>aAa	p.R102K	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.R102K	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	102								p.R102I(1)									GATTCGGAAAGAATTCCCATT	0.433																																						uc002yba.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|breast(1)	3						c.(304-306)AGA>AAA		hypothetical protein LOC63939							80.0	78.0	79.0					20																	58519303		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519303G>A	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.305G>A	20.37:g.58519303G>A	ENSP00000351040:p.Arg102Lys					C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Missense_Mutation_p.R102K	p.R102K	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.22e-08)		5	720	+	all_lung(29;0.00693)		102					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.305G>A	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392944	0.96009	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.25085	1.82;1.82	5.66	5.66	0.87406	.	0.063980	0.64402	D	0.000020	T	0.41949	0.1181	L	0.35593	1.075	0.46654	D	0.999148	D	0.89917	1.0	D	0.85130	0.997	T	0.05354	-1.0890	10	0.25751	T	0.34	-14.3181	19.7503	0.96265	0.0:0.0:1.0:0.0	.	102	Q9NTX9	CT177_HUMAN	K	102	ENSP00000351040:R102K;ENSP00000354056:R102K	ENSP00000351040:R102K	R	+	2	0	C20orf177	57952698	1.000000	0.71417	0.011000	0.14972	0.863000	0.49368	9.106000	0.94253	2.648000	0.89879	0.655000	0.94253	AGA		0.433	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		7	41	0	0	0	0	7	41				
SS18L1	26039	broad.mit.edu	37	20	60733801	60733801	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:60733801C>T	ENST00000331758.3	+	2	169	c.143C>T	c.(142-144)aCg>aTg	p.T48M	SS18L1_ENST00000421564.1_Missense_Mutation_p.T48M|SS18L1_ENST00000370848.4_5'Flank	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	48	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCCGAGTGCACGCAGTGAGTG	0.607			T	SSX1	synovial sarcoma																																	uc002ycb.2		NA		Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma		0				ovary(2)	2						c.(142-144)ACG>ATG		SS18-like protein 1							102.0	79.0	87.0					20																	60733801		2203	4300	6503	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60733801C>T	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.143C>T	20.37:g.60733801C>T	ENSP00000333012:p.Thr48Met					SS18L1_uc011aaa.1_Missense_Mutation_p.T48M|SS18L1_uc002ybz.1_RNA|SS18L1_uc002yca.1_RNA|SS18L1_uc002ycc.1_5'Flank	p.T48M	NM_198935	NP_945173	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		2	198	+	Breast(26;3.97e-09)		48			N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.143C>T	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601365	0.87055	.	.	ENSG00000184402	ENST00000421564;ENST00000331758	T;T	0.31769	1.48;1.48	5.38	4.44	0.53790	.	.	.	.	.	T	0.21631	0.0521	N	0.17379	0.485	0.80722	D	1	P;D	0.56287	0.846;0.975	B;B	0.41894	0.286;0.369	T	0.05321	-1.0892	9	0.87932	D	0	.	14.0396	0.64667	0.0:0.9269:0.0:0.0731	.	48;48	B4DSR7;O75177	.;CREST_HUMAN	M	48	ENSP00000393999:T48M;ENSP00000333012:T48M	ENSP00000333012:T48M	T	+	2	0	SS18L1	60167196	0.996000	0.38824	0.794000	0.32065	0.973000	0.67179	7.502000	0.81614	1.286000	0.44565	0.591000	0.81541	ACG		0.607	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			9	86	0	0	0	0	9	86				
TCFL5	10732	broad.mit.edu	37	20	61488904	61488904	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:61488904C>T	ENST00000335351.3	-	4	1173	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	TCFL5_ENST00000217162.5_Missense_Mutation_p.E313K	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	361					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TTCTGAATCTCTCCAAGGGCT	0.562																																						uc002ydp.2		NA																	0				large_intestine(1)	1						c.(1081-1083)GAG>AAG		transcription factor-like 5 protein							111.0	102.0	105.0					20																	61488904		2203	4300	6503	SO:0001583	missense	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488904C>T	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1081G>A	20.37:g.61488904C>T	ENSP00000334294:p.Glu361Lys					TCFL5_uc002ydo.2_Missense_Mutation_p.E134K|TCFL5_uc002ydq.2_Missense_Mutation_p.E360K	p.E361K	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN			4	1174	-	Breast(26;5.68e-08)		361					O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	c.1081G>A	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097904	0.94197	.	.	ENSG00000101190	ENST00000335351;ENST00000217162	T;T	0.38722	1.15;1.12	5.61	5.61	0.85477	.	0.104769	0.41500	D	0.000863	T	0.49558	0.1564	L	0.34521	1.04	0.41794	D	0.989881	D;P	0.55605	0.972;0.953	P;P	0.53912	0.737;0.551	T	0.50457	-0.8826	10	0.66056	D	0.02	-9.1652	19.6927	0.96009	0.0:1.0:0.0:0.0	.	313;361	F8W9A4;Q9UL49	.;TCFL5_HUMAN	K	361;313	ENSP00000334294:E361K;ENSP00000217162:E313K	ENSP00000217162:E313K	E	-	1	0	TCFL5	60959349	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.914000	0.69964	2.651000	0.90000	0.585000	0.79938	GAG		0.562	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		9	97	0	0	0	0	9	97				
DIDO1	11083	broad.mit.edu	37	20	61511825	61511825	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:61511825G>A	ENST00000266070.4	-	16	5808	c.5483C>T	c.(5482-5484)cCc>cTc	p.P1828L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1828L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1828	Pro-rich.				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)					AAGGTAAGAGGGTGAGGGGCC	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(5482-5484)CCC>CTC		death inducer-obliterator 1 isoform c							67.0	76.0	73.0					20																	61511825		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511825G>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.5483C>T	20.37:g.61511825G>A	ENSP00000266070:p.Pro1828Leu					DIDO1_uc002yds.1_Missense_Mutation_p.P1828L	p.P1828L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5747	-	Breast(26;5.68e-08)		1828			Pro-rich.		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.5483C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559176	0.65538	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12879	2.64;2.64	4.97	4.02	0.46733	.	0.000000	0.36374	N	0.002631	T	0.16769	0.0403	M	0.64997	1.995	0.80722	D	1	B	0.26195	0.144	B	0.20577	0.03	T	0.02632	-1.1131	10	0.72032	D	0.01	-10.1552	13.4144	0.60959	0.0769:0.0:0.9231:0.0	.	1828	Q9BTC0	DIDO1_HUMAN	L	1828	ENSP00000266070:P1828L;ENSP00000378752:P1828L	ENSP00000266070:P1828L	P	-	2	0	DIDO1	60982270	1.000000	0.71417	0.008000	0.14137	0.779000	0.44077	4.666000	0.61554	1.061000	0.40601	0.561000	0.74099	CCC		0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		19	75	0	0	0	0	19	75				
KRTAP13-4	284827	broad.mit.edu	37	21	31802642	31802642	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:31802642G>T	ENST00000334068.2	+	1	71	c.49G>T	c.(49-51)Ggc>Tgc	p.G17C		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	17						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTCCTTTGGGGGCTACCTGTA	0.552																																					NSCLC(196;2401 3038 18004 35753)	uc011acw.1		NA																	0					0						c.(49-51)GGC>TGC		keratin associated protein 13-4							101.0	103.0	102.0					21																	31802642		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802642G>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.49G>T	21.37:g.31802642G>T	ENSP00000334834:p.Gly17Cys						p.G17C	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	49	+			17					A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.49G>T	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	9.910	1.209234	0.22205	.	.	ENSG00000186971	ENST00000334068	T	0.03524	3.9	4.95	-4.93	0.03066	.	0.748686	0.11320	N	0.576152	T	0.11707	0.0285	M	0.77486	2.375	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.01053	-1.1467	10	0.48119	T	0.1	.	7.2474	0.26129	0.6323:0.0:0.2358:0.1318	.	17	Q3LI77	KR134_HUMAN	C	17	ENSP00000334834:G17C	ENSP00000334834:G17C	G	+	1	0	KRTAP13-4	30724513	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.704000	0.01898	-0.794000	0.04468	-0.897000	0.02905	GGC		0.552	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			26	72	1	0	4.6e-10	9.12e-10	26	72				
DSCAM	1826	broad.mit.edu	37	21	41719757	41719757	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:41719757A>G	ENST00000400454.1	-	6	1527	c.1050T>C	c.(1048-1050)aaT>aaC	p.N350N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	350	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGATTTCACCATTGCGGTACC	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1048-1050)AAT>AAC		Down syndrome cell adhesion molecule isoform							227.0	208.0	214.0					21																	41719757		1957	4154	6111	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719757A>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1050T>C	21.37:g.41719757A>G						DSCAM_uc002yyr.1_RNA	p.N350N	NM_001389	NP_001380	O60469	DSCAM_HUMAN			6	1502	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	350			Extracellular (Potential).|Ig-like C2-type 4.		O60468	Silent	SNP	ENST00000400454.1	37	c.1050T>C	CCDS42929.1																																																																																				0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		33	105	0	0	0	0	33	105				
ZBTB21	49854	broad.mit.edu	37	21	43413920	43413920	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:43413920C>G	ENST00000310826.5	-	3	468	c.285G>C	c.(283-285)gaG>gaC	p.E95D	ZBTB21_ENST00000398505.3_Missense_Mutation_p.E95D|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E95D|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E95D|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	95	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Mediates homodimerization.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GGCTGCTCTTCTCAACAAATA	0.398																																						uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(283-285)GAG>GAC		zinc finger protein 295 isoform L							48.0	47.0	47.0					21																	43413920		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43413920C>G	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.285G>C	21.37:g.43413920C>G	ENSP00000308759:p.Glu95Asp					ZNF295_uc002yzz.3_Missense_Mutation_p.E95D|ZNF295_uc002yzy.3_Missense_Mutation_p.E95D|ZNF295_uc002zaa.3_Missense_Mutation_p.E95D|ZNF295_uc010gov.1_Missense_Mutation_p.E95D|ZNF295_uc002zac.2_Missense_Mutation_p.E95D	p.E95D	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	499	-			95			Mediates homodimerization.|BTB.		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.285G>C	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.407882	0.42715	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511;ENST00000425521	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.5	4.62	0.57501	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.057356	0.64402	D	0.000002	T	0.45357	0.1338	N	0.02960	-0.455	0.47037	D	0.999297	P;B	0.35894	0.526;0.438	B;B	0.37692	0.23;0.256	T	0.53725	-0.8398	10	0.46703	T	0.11	-31.889	14.267	0.66126	0.0:0.9284:0.0:0.0716	.	95;95	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	D	95	ENSP00000381517:E95D;ENSP00000308759:E95D;ENSP00000381512:E95D;ENSP00000381523:E95D;ENSP00000387788:E95D	ENSP00000308759:E95D	E	-	3	2	ZNF295	42286989	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	3.047000	0.49854	1.317000	0.45149	0.655000	0.94253	GAG		0.398	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		6	31	0	0	0	0	6	31				
ZBTB21	49854	broad.mit.edu	37	21	43414197	43414197	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:43414197C>G	ENST00000310826.5	-	3	191	c.8G>C	c.(7-9)gGa>gCa	p.G3A	ZBTB21_ENST00000398505.3_Missense_Mutation_p.G3A|ZBTB21_ENST00000398511.3_Missense_Mutation_p.G3A|ZBTB21_ENST00000398499.1_Missense_Mutation_p.G3A|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	3					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										ATGCAGTAATCCCTCCATGGC	0.448																																						uc002zab.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(7-9)GGA>GCA		zinc finger protein 295 isoform L							124.0	118.0	120.0					21																	43414197		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43414197C>G	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.8G>C	21.37:g.43414197C>G	ENSP00000308759:p.Gly3Ala					ZNF295_uc002yzz.3_Missense_Mutation_p.G3A|ZNF295_uc002yzy.3_Missense_Mutation_p.G3A|ZNF295_uc002zaa.3_Missense_Mutation_p.G3A|ZNF295_uc010gov.1_Missense_Mutation_p.G3A|ZNF295_uc002zac.2_Missense_Mutation_p.G3A	p.G3A	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	222	-			3					Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.8G>C	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685741	0.88639	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511;ENST00000425521;ENST00000449949;ENST00000398497	T;T;T;T;D	0.82081	3.09;2.94;2.94;2.94;-1.57	5.71	5.71	0.89125	BTB/POZ fold (1);	0.055530	0.64402	D	0.000001	D	0.88514	0.6457	L	0.46947	1.48	0.53688	D	0.999978	D;D	0.71674	0.998;0.994	D;P	0.64687	0.928;0.849	D	0.88725	0.3232	10	0.66056	D	0.02	-24.8182	19.8449	0.96704	0.0:1.0:0.0:0.0	.	3;3	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	A	3	ENSP00000381517:G3A;ENSP00000308759:G3A;ENSP00000381512:G3A;ENSP00000381523:G3A;ENSP00000387788:G3A	ENSP00000308759:G3A	G	-	2	0	ZNF295	42287266	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	4.379000	0.59575	2.680000	0.91292	0.655000	0.94253	GGA		0.448	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		10	84	0	0	0	0	10	84				
SLC19A1	6573	broad.mit.edu	37	21	46945761	46945761	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr21:46945761C>A	ENST00000311124.4	-	5	1415	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	SLC19A1_ENST00000380010.4_Silent_p.V421V|SLC19A1_ENST00000485649.2_Silent_p.V381V|SLC19A1_ENST00000567670.1_Silent_p.V421V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	421					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCAGGCCCCGCACGTCCGAGA	0.582																																						uc002zhl.1		NA																	0					0						c.(1261-1263)GTG>GTT		solute carrier family 19 member 1							97.0	89.0	92.0					21																	46945761		2203	4300	6503	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46945761C>A	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1263G>T	21.37:g.46945761C>A						SLC19A1_uc010gpy.1_Silent_p.V421V|SLC19A1_uc011aft.1_Silent_p.V381V|SLC19A1_uc002zhm.1_Silent_p.V421V|SLC19A1_uc010gpz.1_Silent_p.V300V	p.V421V	NM_194255	NP_919231	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	5	1382	-			421			Extracellular (Probable).		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.1263G>T	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	0.638	-0.814436	0.02798	.	.	ENSG00000173638	ENST00000417954	.	.	.	4.51	2.63	0.31362	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55003	-0.8208	4	.	.	.	-9.6567	9.6098	0.39657	0.0:0.7689:0.1455:0.0855	.	.	.	.	F	156	.	.	C	-	2	0	SLC19A1	45770189	0.990000	0.36364	0.366000	0.25914	0.006000	0.05464	0.646000	0.24797	1.019000	0.39547	-0.150000	0.13652	TGC		0.582	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			20	59	1	0	4.35e-09	8.5e-09	20	59				
CCT8L2	150160	broad.mit.edu	37	22	17072993	17072993	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:17072993G>T	ENST00000359963.3	-	1	707	c.448C>A	c.(448-450)Ctg>Atg	p.L150M		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	150					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGATGGCCAGGGAGGGCAGT	0.637																																						uc002zlp.1		NA																	0				ovary(1)	1						c.(448-450)CTG>ATG		T-complex protein 1							50.0	48.0	49.0					22																	17072993		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072993G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.448C>A	22.37:g.17072993G>T	ENSP00000353048:p.Leu150Met						p.L150M	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	708	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	150					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.448C>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.937827	0.34189	.	.	ENSG00000198445	ENST00000359963	T	0.78364	-1.17	2.0	0.12	0.14691	.	0.000000	0.28853	U	0.013932	T	0.81206	0.4774	M	0.82323	2.585	0.09310	N	1	P	0.45902	0.868	P	0.54460	0.753	T	0.71272	-0.4642	10	0.62326	D	0.03	-12.3969	3.6843	0.08323	0.4148:0.0:0.5852:0.0	.	150	Q96SF2	TCPQM_HUMAN	M	150	ENSP00000353048:L150M	ENSP00000353048:L150M	L	-	1	2	CCT8L2	15452993	0.996000	0.38824	0.009000	0.14445	0.168000	0.22595	1.190000	0.32126	0.188000	0.20168	0.393000	0.25936	CTG		0.637	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			26	48	1	0	2.13e-12	4.37e-12	26	48				
RGL4	266747	broad.mit.edu	37	22	24039430	24039430	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:24039430G>C	ENST00000290691.5	+	8	2404	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	RGL4_ENST00000401461.1_Missense_Mutation_p.D276H|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	412	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						GGACGACCTGGATGTGAGTGA	0.607																																						uc002zxn.2		NA																	0				ovary(1)	1						c.(1234-1236)GAT>CAT		ral guanine nucleotide dissociation							70.0	72.0	71.0					22																	24039430		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24039430G>C		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1234G>C	22.37:g.24039430G>C	ENSP00000290691:p.Asp412His					LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.D412H|RGL4_uc002zxp.1_Missense_Mutation_p.D276H|RGL4_uc002zxq.2_Missense_Mutation_p.D276H	p.D412H	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			8	2404	+			412			Ras-GEF.		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.1234G>C	CCDS13811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.19|11.19	1.566860|1.566860	0.28003|0.28003	.|.	.|.	ENSG00000159496|ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392|ENST00000452208	T;T;T|.	0.35789|.	1.29;1.29;1.29|.	1.64|1.64	-0.682|-0.682	0.11339|0.11339	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);|.	1.061950|.	0.07408|.	N|.	0.891990|.	T|T	0.29524|0.29524	0.0736|0.0736	L|L	0.35487|0.35487	1.065|1.065	0.23669|0.23669	N|N	0.997151|0.997151	P;P;P;P|.	0.46706|.	0.883;0.472;0.594;0.594|.	P;B;P;P|.	0.49226|.	0.497;0.247;0.603;0.473|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.46703|.	T|.	0.11|.	.|.	4.9685|4.9685	0.14103|0.14103	0.5572:0.0:0.4428:0.0|0.5572:0.0:0.4428:0.0	.|.	276;276;412;412|.	E7EW79;Q495L8;E9PH87;Q8IZJ4|.	.;.;.;RGDSR_HUMAN|.	H|A	276;412;412;412|93	ENSP00000383951:D276H;ENSP00000290691:D412H;ENSP00000402142:D412H|.	ENSP00000290691:D412H|.	D|G	+|+	1|2	0|0	RGL4|RGL4	22369430|22369430	1.000000|1.000000	0.71417|0.71417	0.014000|0.014000	0.15608|0.15608	0.039000|0.039000	0.13416|0.13416	3.715000|3.715000	0.54897|0.54897	-0.127000|-0.127000	0.11661|0.11661	-1.054000|-1.054000	0.02325|0.02325	GAT|GGA		0.607	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		6	81	0	0	0	0	6	81				
SMTN	6525	broad.mit.edu	37	22	31492986	31492986	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:31492986G>A	ENST00000347557.2	+	15	2247	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	SMTN_ENST00000404574.1_Intron|SMTN_ENST00000358743.1_Missense_Mutation_p.D677N|SMTN_ENST00000333137.7_Missense_Mutation_p.D677N	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	677					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCCTGCAGATGATGGCACACG	0.657																																						uc003ajl.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(2029-2031)GAT>AAT		smoothelin isoform c							60.0	62.0	61.0					22																	31492986		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31492986G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2029G>A	22.37:g.31492986G>A	ENSP00000328635:p.Asp677Asn					SMTN_uc003ajk.1_Missense_Mutation_p.D677N|SMTN_uc003ajm.1_Missense_Mutation_p.D677N|SMTN_uc011ale.1_Missense_Mutation_p.D762N|SMTN_uc011alf.1_Missense_Mutation_p.D733N|SMTN_uc003ajn.1_Missense_Mutation_p.D700N|SMTN_uc011alg.1_Missense_Mutation_p.D133N|SMTN_uc003ajo.1_Intron|SMTN_uc010gwe.1_Intron	p.D677N	NM_006932	NP_008863	P53814	SMTN_HUMAN			15	2247	+			677					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.2029G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209319	0.95069	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.75938	-0.6;-0.98;-0.98	4.62	4.62	0.57501	.	0.000000	0.37095	N	0.002253	D	0.83977	0.5371	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.74023	0.972;0.982;0.954;0.972;0.954;0.98	D	0.86007	0.1498	10	0.72032	D	0.01	-20.586	17.9079	0.88925	0.0:0.0:1.0:0.0	.	733;762;700;677;677;677	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	N	677;677;677;675;700	ENSP00000351593:D677N;ENSP00000328635:D677N;ENSP00000329532:D677N	ENSP00000329393:D675N	D	+	1	0	SMTN	29822986	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	3.168000	0.50801	2.294000	0.77228	0.456000	0.33151	GAT		0.657	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		5	42	0	0	0	0	5	42				
APOL2	23780	broad.mit.edu	37	22	36629289	36629289	+	Splice_Site	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:36629289T>C	ENST00000249066.6	-	4	398		c.e4-2		APOL2_ENST00000451256.2_Splice_Site|APOL2_ENST00000358502.5_Splice_Site	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2						acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCCTTAACCCTTGAGAACGAG	0.567																																						uc003aoz.2		NA																	0					0						c.e3-1		apolipoprotein L2							44.0	44.0	44.0					22																	36629289		692	1591	2283	SO:0001630	splice_region_variant	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36629289T>C	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.79-2A>G	22.37:g.36629289T>C						APOL2_uc011amm.1_Splice_Site_p.R86_splice|APOL2_uc003apa.2_Splice_Site		NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN			3	258	-								B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Splice_Site	SNP	ENST00000249066.6	37	c.-78_splice	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	.	3.370	-0.128693	0.06753	.	.	ENSG00000128335	ENST00000451256	.	.	.	1.62	0.47	0.16747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6361	0.08150	0.0:0.223:0.0:0.777	.	.	.	.	.	-1	.	.	.	-	.	.	APOL2	34959235	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.074000	0.11450	0.070000	0.16634	0.338000	0.21704	.		0.567	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637	Intron	30	38	0	0	0	0	30	38				
ENTHD1	150350	broad.mit.edu	37	22	40283410	40283410	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:40283410C>G	ENST00000325157.6	-	2	593	c.343G>C	c.(343-345)Gac>Cac	p.D115H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	115	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTACCTTGGTCTTTTCCAGCT	0.443																																						uc003ayg.2		NA																	0				ovary(2)|skin(1)	3						c.(343-345)GAC>CAC		ENTH domain containing 1							85.0	85.0	85.0					22																	40283410		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40283410C>G	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.343G>C	22.37:g.40283410C>G	ENSP00000317431:p.Asp115His						p.D115H	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			2	594	-	Melanoma(58;0.0749)		115			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.343G>C	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966640	0.74131	.	.	ENSG00000176177	ENST00000325157	T	0.55588	0.51	5.41	5.41	0.78517	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.069943	0.56097	D	0.000023	T	0.81959	0.4933	H	0.97465	4.01	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.87724	0.2575	10	0.87932	D	0	-17.6891	14.7536	0.69546	0.0:0.9286:0.0:0.0714	.	115	Q8IYW4	ENTD1_HUMAN	H	115	ENSP00000317431:D115H	ENSP00000317431:D115H	D	-	1	0	ENTHD1	38613356	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.924000	0.56476	2.687000	0.91594	0.655000	0.94253	GAC		0.443	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		4	72	0	0	0	0	4	72				
MPPED1	758	broad.mit.edu	37	22	43830958	43830958	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:43830958G>C	ENST00000417669.2	+	3	673	c.229G>C	c.(229-231)Gac>Cac	p.D77H	MPPED1_ENST00000542779.1_Missense_Mutation_p.D77H|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.D110H|MPPED1_ENST00000443721.1_Missense_Mutation_p.D77H|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	77							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGCAGGGTGGACCCGGTGCC	0.657																																						uc011apv.1		NA																	0					0						c.(229-231)GAC>CAC		metallophosphoesterase domain containing 1							88.0	102.0	97.0					22																	43830958		2167	4254	6421	SO:0001583	missense	758						hydrolase activity	g.chr22:43830958G>C	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.229G>C	22.37:g.43830958G>C	ENSP00000388137:p.Asp77His					MPPED1_uc011apw.1_5'UTR|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.D77H|MPPED1_uc011apz.1_Missense_Mutation_p.D110H	p.D77H	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			3	452	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	77					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.229G>C	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178420	0.78564	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000542779;ENST00000538182	T;T;T;T;T	0.47528	0.91;0.84;0.91;0.91;0.9	4.81	4.81	0.61882	.	0.053175	0.64402	D	0.000001	T	0.47801	0.1465	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.975	P;P	0.54174	0.744;0.592	T	0.50955	-0.8766	10	0.46703	T	0.11	-48.5485	18.2639	0.90046	0.0:0.0:1.0:0.0	.	110;77	B7Z2S9;O15442	.;MPPD1_HUMAN	H	77;77;77;55;77;110	ENSP00000388137:D77H;ENSP00000335568:D77H;ENSP00000400686:D77H;ENSP00000444532:D77H;ENSP00000438335:D110H	ENSP00000335568:D77H	D	+	1	0	MPPED1	42160902	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	9.206000	0.95056	2.374000	0.81015	0.561000	0.74099	GAC		0.657	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		14	130	0	0	0	0	14	130				
PNPLA3	80339	broad.mit.edu	37	22	44340664	44340664	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr22:44340664C>T	ENST00000216180.3	+	8	1379	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PNPLA3_ENST00000423180.2_Silent_p.L398L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	402					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TGTGTCTGCTCCCCGCCTCCA	0.567																																						uc003bei.1		NA																	0					0						c.(1204-1206)CTC>CTT		patatin-like phospholipase domain containing 3							206.0	164.0	178.0					22																	44340664		2203	4300	6503	SO:0001819	synonymous_variant	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44340664C>T		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1206C>T	22.37:g.44340664C>T						PNPLA3_uc010gzm.1_RNA	p.L402L	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			8	1379	+		Ovarian(80;0.024)|all_neural(38;0.0416)	402			Lumenal (Potential).		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	ENST00000216180.3	37	c.1206C>T	CCDS14054.1																																																																																				0.567	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		6	90	0	0	0	0	6	90				
ITPR1	3708	broad.mit.edu	37	3	4847887	4847887	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:4847887A>G	ENST00000443694.2	+	52	7163	c.7163A>G	c.(7162-7164)cAt>cGt	p.H2388R	ITPR1_ENST00000423119.2_Missense_Mutation_p.H2355R|ITPR1_ENST00000354582.6_Missense_Mutation_p.H2388R|ITPR1_ENST00000357086.4_Missense_Mutation_p.H2355R|ITPR1_ENST00000456211.2_Missense_Mutation_p.H2340R|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Missense_Mutation_p.H366R|ITPR1_ENST00000302640.8_Missense_Mutation_p.H2388R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2403					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTCCTCTATCATTTGTTGTAT	0.443																																						uc003bqa.2		NA																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(7063-7065)CAT>CGT		inositol 1,4,5-triphosphate receptor, type 1							164.0	155.0	158.0					3																	4847887		1953	4158	6111	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4847887A>G	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7163A>G	3.37:g.4847887A>G	ENSP00000401671:p.His2388Arg					ITPR1_uc010hca.1_Missense_Mutation_p.H2340R|ITPR1_uc011asu.1_Missense_Mutation_p.H366R|ITPR1_uc003bqc.2_Missense_Mutation_p.H1325R|ITPR1_uc010hcc.1_Missense_Mutation_p.H123R|ITPR1_uc011asv.1_Missense_Mutation_p.H79R	p.H2355R	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	52	7412	+			2403			Lumenal (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7064A>G	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209825	0.79240	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98381	-2.99;-3.0;-3.0;-3.0;-2.99;-4.9;-2.99	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	M	0.78049	2.395	0.58432	D	0.999999	P;D;D	0.71674	0.933;0.998;0.998	D;D;D	0.78314	0.928;0.971;0.991	D	0.99218	1.0878	10	0.40728	T	0.16	.	15.1287	0.72503	1.0:0.0:0.0:0.0	.	366;2403;2355	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	R	2403;2388;2388;2355;849;2355;2340;366;2388	ENSP00000306253:H2388R;ENSP00000346595:H2388R;ENSP00000405934:H2355R;ENSP00000349597:H2355R;ENSP00000397885:H2340R;ENSP00000440564:H366R;ENSP00000401671:H2388R	ENSP00000306253:H2388R	H	+	2	0	ITPR1	4822887	1.000000	0.71417	0.173000	0.22940	0.936000	0.57629	9.191000	0.94940	2.036000	0.60181	0.482000	0.46254	CAT		0.443	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		22	35	0	0	0	0	22	35				
OGG1	4968	broad.mit.edu	37	3	9796474	9796474	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:9796474G>C	ENST00000344629.7	+	4	995	c.652G>C	c.(652-654)Gaa>Caa	p.E218Q	OGG1_ENST00000302008.8_Missense_Mutation_p.E218Q|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.E218Q|OGG1_ENST00000349503.5_Missense_Mutation_p.E218Q|OGG1_ENST00000339511.5_Missense_Mutation_p.E218Q|OGG1_ENST00000302036.7_Missense_Mutation_p.E218Q|OGG1_ENST00000449570.2_Missense_Mutation_p.E218Q			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	218					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CATCCTGGAAGAACAGGGCGG	0.642								Base excision repair (BER), DNA glycosylases																														uc003bsi.2		NA																	0					0						c.(652-654)GAA>CAA	BER_DNA_glycosylases	8-oxoguanine DNA-glycosylase 1 isoform 1a							43.0	35.0	38.0					3																	9796474		2203	4300	6503	SO:0001583	missense	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9796474G>C	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.652G>C	3.37:g.9796474G>C	ENSP00000342851:p.Glu218Gln					OGG1_uc003bsh.2_Missense_Mutation_p.E218Q|OGG1_uc003bsj.2_Missense_Mutation_p.E218Q|OGG1_uc003bsk.2_Missense_Mutation_p.E218Q|OGG1_uc003bsl.2_Missense_Mutation_p.E218Q|OGG1_uc003bsm.2_Missense_Mutation_p.E218Q|OGG1_uc003bsn.2_Missense_Mutation_p.E218Q|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Intron|OGG1_uc010hcm.1_Missense_Mutation_p.E61Q|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Intron	p.E218Q	NM_002542	NP_002533	O15527	OGG1_HUMAN			4	995	+	Medulloblastoma(99;0.227)		218					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	c.652G>C	CCDS2581.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.97|12.97|12.97	2.096237|2.096237|2.096237	0.36952|0.36952|0.36952	.|.|.	.|.|.	ENSG00000114026|ENSG00000114026|ENSG00000114026	ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000339542|ENST00000441094|ENST00000352937	T;T;T;T;T;T;T|.|.	0.55930|.|.	0.49;0.49;0.49;0.49;0.49;0.49;0.49|.|.	5.78|5.78|5.78	5.78|5.78|5.78	0.91487|0.91487|0.91487	HhH-GPD domain (2);DNA glycosylase (2);|.|.	0.664814|.|.	0.16428|.|.	N|.|.	0.214829|.|.	T|T|T	0.36524|0.36524|0.36524	0.0970|0.0970|0.0970	L|L|L	0.31157|0.31157|0.31157	0.91|0.91|0.91	0.09310|0.09310|0.09310	N|N|N	1|1|1	D;B;B;B;B;B;B;B|.|.	0.60575|.|.	0.988;0.117;0.117;0.015;0.132;0.117;0.017;0.024|.|.	P;B;B;B;B;B;B;B|.|.	0.55615|.|.	0.78;0.023;0.039;0.013;0.012;0.023;0.017;0.004|.|.	T|T|T	0.25398|0.25398|0.25398	-1.0133|-1.0133|-1.0133	10|5|5	0.56958|.|.	D|.|.	0.05|.|.	-6.5041|-6.5041|-6.5041	10.4181|10.4181|10.4181	0.44333|0.44333|0.44333	0.1444:0.0:0.8556:0.0|0.1444:0.0:0.8556:0.0|0.1444:0.0:0.8556:0.0	.|.|.	61;218;218;218;218;218;218;218|.|.	F8WA07;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2|.|.	.;.;.;.;.;.;OGG1_HUMAN;.|.|.	Q|N|T	218;218;218;218;218;218;218;61|115|123	ENSP00000305584:E218Q;ENSP00000342851:E218Q;ENSP00000306561:E218Q;ENSP00000303132:E218Q;ENSP00000345520:E218Q;ENSP00000403598:E218Q;ENSP00000305527:E218Q|.|.	ENSP00000305584:E218Q|.|.	E|K|R	+|+|+	1|3|2	0|2|0	OGG1|OGG1|OGG1	9771474|9771474|9771474	0.072000|0.072000|0.072000	0.21174|0.21174|0.21174	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.846000|0.846000|0.846000	0.48090|0.48090|0.48090	1.082000|1.082000|1.082000	0.30803|0.30803|0.30803	2.731000|2.731000|2.731000	0.93534|0.93534|0.93534	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAA|AAG|AGA		0.642	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		5	16	0	0	0	0	5	16				
MYRIP	25924	broad.mit.edu	37	3	40231679	40231679	+	Silent	SNP	C	C	A	rs201714577		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:40231679C>A	ENST00000302541.6	+	10	1732	c.1390C>A	c.(1390-1392)Cga>Aga	p.R464R	MYRIP_ENST00000396217.3_Silent_p.R375R|MYRIP_ENST00000539167.1_Silent_p.R277R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.R464R|MYRIP_ENST00000425621.1_Silent_p.R464R	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	464	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCTCTTCCCGAGAAGTTGG	0.622																																						uc003cka.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1390-1392)CGA>AGA		myosin VIIA and Rab interacting protein							58.0	62.0	60.0					3																	40231679		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231679C>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1390C>A	3.37:g.40231679C>A						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.R464R|MYRIP_uc010hhw.2_Silent_p.R375R|MYRIP_uc011ayz.1_Silent_p.R277R|uc003ckb.2_Intron	p.R464R	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1525	+			464			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1390C>A	CCDS2689.1																																																																																				0.622	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		15	42	1	0	0.000308642	0.00053257	15	42				
CCDC13	152206	broad.mit.edu	37	3	42793455	42793455	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:42793455C>T	ENST00000310232.6	-	5	659	c.576G>A	c.(574-576)ccG>ccA	p.P192P	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	192										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCTGGGCCCTCGGTGGCTTGG	0.597																																						uc003cly.3		NA																	0				ovary(1)	1						c.(574-576)CCG>CCA		coiled-coil domain containing 13							81.0	75.0	77.0					3																	42793455		2203	4300	6503	SO:0001819	synonymous_variant	152206							g.chr3:42793455C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.576G>A	3.37:g.42793455C>T						CCDC13_uc003clz.2_Silent_p.P192P|CCDC13_uc011azq.1_Silent_p.P192P	p.P192P	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			5	660	-			192			Potential.			Silent	SNP	ENST00000310232.6	37	c.576G>A	CCDS2705.1																																																																																				0.597	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		21	49	0	0	0	0	21	49				
ZNF445	353274	broad.mit.edu	37	3	44489577	44489577	+	Missense_Mutation	SNP	G	G	A	rs201335323		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:44489577G>A	ENST00000396077.2	-	8	1933	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	ZNF445_ENST00000425708.2_Missense_Mutation_p.A529V	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	529					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTCATGCCGCGCACAGTTGGA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		21985	0.001		0.0	False		,,,				2504	0.0					uc003cnf.2		NA																	0				ovary(1)	1						c.(1585-1587)GCG>GTG		zinc finger protein 445							91.0	98.0	96.0					3																	44489577		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44489577G>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1586C>T	3.37:g.44489577G>A	ENSP00000379387:p.Ala529Val					ZNF445_uc011azv.1_Missense_Mutation_p.A517V|ZNF445_uc011azw.1_Missense_Mutation_p.A529V	p.A529V	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	1934	-			529			C2H2-type 2.		Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.1586C>T	CCDS2713.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.004	-2.358736	0.00214	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.16897	2.31;2.31	3.58	-1.95	0.07548	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.503030	0.04235	N	0.336010	T	0.07324	0.0185	N	0.10629	0.01	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.31081	-0.9956	10	0.10377	T	0.69	.	4.8155	0.13365	0.3627:0.0:0.4694:0.1679	.	517;529	B7ZKX2;P59923	.;ZN445_HUMAN	V	529	ENSP00000413073:A529V;ENSP00000379387:A529V	ENSP00000379387:A529V	A	-	2	0	ZNF445	44464581	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.624000	0.05540	-0.342000	0.08363	-0.229000	0.12294	GCG		0.483	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		9	73	0	0	0	0	9	73				
DNAH1	25981	broad.mit.edu	37	3	52404172	52404172	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:52404172C>T	ENST00000420323.2	+	39	6446	c.6185C>T	c.(6184-6186)tCa>tTa	p.S2062L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2062					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)	p.T2063delT(1)		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)		GTGATCGCCTCAACCAACTGC	0.577																																						uc011bef.1		NA																	1	Deletion - In frame(1)		ovary(1)	large_intestine(3)	3						c.(6184-6186)TCA>TTA		dynein, axonemal, heavy chain 1							99.0	106.0	104.0					3																	52404172		2166	4263	6429	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52404172C>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.6185C>T	3.37:g.52404172C>T	ENSP00000401514:p.Ser2062Leu						p.S2062L	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)	39	6446	+			2062					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.6185C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588414	0.66105	.	.	ENSG00000114841	ENST00000420323	T	0.28255	1.62	4.53	4.53	0.55603	.	0.350071	0.20688	N	0.087501	T	0.42404	0.1201	M	0.70903	2.155	0.58432	D	0.999998	P	0.47841	0.901	P	0.48304	0.573	T	0.30794	-0.9966	10	0.23302	T	0.38	.	17.4509	0.87592	0.0:1.0:0.0:0.0	.	2062	C9JXH6	.	L	2062	ENSP00000401514:S2062L	ENSP00000401514:S2062L	S	+	2	0	DNAH1	52379212	0.998000	0.40836	0.856000	0.33681	0.181000	0.23173	5.149000	0.64863	2.361000	0.80049	0.491000	0.48974	TCA		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	30	0	0	0	0	4	30				
ITIH4	3700	broad.mit.edu	37	3	52852070	52852070	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:52852070T>C	ENST00000266041.4	-	20	2390	c.2294A>G	c.(2293-2295)cAa>cGa	p.Q765R	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.Q770R|ITIH4_ENST00000346281.5_Missense_Mutation_p.Q749R|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q735R	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	765					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCTCTCACCTTGCTCAGGGTC	0.647																																						uc003dfz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2293-2295)CAA>CGA		inter-alpha (globulin) inhibitor H4							69.0	81.0	77.0					3																	52852070		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52852070T>C	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2294A>G	3.37:g.52852070T>C	ENSP00000266041:p.Gln765Arg					ITIH4_uc011bel.1_Missense_Mutation_p.Q479R|ITIH4_uc003dfy.2_Intron|ITIH4_uc011bem.1_Missense_Mutation_p.Q770R|ITIH4_uc011ben.1_Missense_Mutation_p.Q735R	p.Q765R	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	20	2330	-			765					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.2294A>G	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864392	0.51482	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.8	4.8	0.61643	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.328596	0.26200	N	0.025758	T	0.29223	0.0727	M	0.70275	2.135	0.80722	D	1	D;P;D	0.58970	0.984;0.926;0.972	P;P;P	0.56612	0.802;0.802;0.802	T	0.01767	-1.1278	10	0.48119	T	0.1	-25.432	12.4306	0.55571	0.0:0.0:0.0:1.0	.	735;770;765	E9PGN5;B7ZKJ8;Q14624	.;.;ITIH4_HUMAN	R	765;749;770;735;723	ENSP00000266041:Q765R;ENSP00000340520:Q749R;ENSP00000417824:Q770R;ENSP00000384425:Q735R	ENSP00000266041:Q765R	Q	-	2	0	ITIH4	52827110	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.884000	0.39668	2.099000	0.63709	0.533000	0.62120	CAA		0.647	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		13	27	0	0	0	0	13	27				
CNTN3	5067	broad.mit.edu	37	3	74350577	74350577	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:74350577G>A	ENST00000263665.6	-	15	2094	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	689	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTTTCTGAGGGTAAACTTG	0.413																																						uc003dpm.1		NA																	0				breast(3)|ovary(1)|skin(1)	5						c.(2065-2067)CCC>CCT		contactin 3 precursor							128.0	127.0	128.0					3																	74350577		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350577G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2067C>T	3.37:g.74350577G>A							p.P689P	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	15	2147	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	689			Fibronectin type-III 1.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2067C>T	CCDS33790.1																																																																																				0.413	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		14	61	0	0	0	0	14	61				
VGLL3	389136	broad.mit.edu	37	3	87018032	87018032	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:87018032C>A	ENST00000398399.2	-	3	1008	c.645G>T	c.(643-645)gtG>gtT	p.V215V	VGLL3_ENST00000383698.3_Silent_p.V215V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGGATGGGCTCACCTGAGATG	0.602																																						uc003dqn.2		NA																	0					0						c.(643-645)GTG>GTT		colon carcinoma related protein							83.0	87.0	85.0					3																	87018032		2163	4267	6430	SO:0001819	synonymous_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018032C>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.645G>T	3.37:g.87018032C>A							p.V215V	NM_016206	NP_057290	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1009	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	215						Silent	SNP	ENST00000398399.2	37	c.645G>T	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773565	0.16051	.	.	ENSG00000206538	ENST00000494229	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.6656	12.9601	0.58453	0.0:0.9253:0.0:0.0747	.	.	.	.	X	149	.	.	E	-	1	0	VGLL3	87100722	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.706000	0.37878	2.756000	0.94617	0.511000	0.50034	GAG		0.602	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		17	34	1	0	7.08e-05	0.000125042	17	34				
OR5H1	26341	broad.mit.edu	37	3	97851900	97851900	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:97851900A>G	ENST00000354565.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACGATGGCATATGATCGCTAT	0.393																																						uc011bgt.1		NA																	0				ovary(1)|breast(1)	2						c.(358-360)TAT>TGT		olfactory receptor, family 5, subfamily H,							135.0	132.0	133.0					3																	97851900		2201	4299	6500	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851900A>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.359A>G	3.37:g.97851900A>G	ENSP00000346575:p.Tyr120Cys						p.Y120C	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	359	+			120			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.359A>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	5.647	0.304060	0.10678	.	.	ENSG00000231192	ENST00000354565	T	0.01347	4.99	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000670	T	0.03783	0.0107	M	0.91090	3.175	0.23238	N	0.998065	B	0.33280	0.405	B	0.30782	0.12	T	0.12682	-1.0538	10	0.87932	D	0	.	10.1009	0.42504	1.0:0.0:0.0:0.0	.	120	A6NKK0	OR5H1_HUMAN	C	120	ENSP00000346575:Y120C	ENSP00000346575:Y120C	Y	+	2	0	OR5H1	99334590	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	2.069000	0.41481	1.481000	0.48307	0.164000	0.16699	TAT		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		4	183	0	0	0	0	4	183				
OR5H1	26341	broad.mit.edu	37	3	97852332	97852332	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:97852332C>G	ENST00000354565.2	+	1	791	c.791C>G	c.(790-792)tCt>tGt	p.S264C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGCCCTGCATCTCCGCAAGCA	0.433																																						uc011bgt.1		NA																	0				ovary(1)|breast(1)	2						c.(790-792)TCT>TGT		olfactory receptor, family 5, subfamily H,							111.0	119.0	116.0					3																	97852332		2202	4299	6501	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852332C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.791C>G	3.37:g.97852332C>G	ENSP00000346575:p.Ser264Cys						p.S264C	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	791	+			264			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.791C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.140055	0.21205	.	.	ENSG00000231192	ENST00000354565	T	0.00277	8.34	3.57	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000313	T	0.00784	0.0026	M	0.92412	3.305	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.21280	-1.0250	10	0.87932	D	0	.	9.5597	0.39362	0.2117:0.7883:0.0:0.0	.	264	A6NKK0	OR5H1_HUMAN	C	264	ENSP00000346575:S264C	ENSP00000346575:S264C	S	+	2	0	OR5H1	99335022	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.127000	0.10547	0.631000	0.30412	0.195000	0.17529	TCT		0.433	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		13	110	0	0	0	0	13	110				
OR5H1	26341	broad.mit.edu	37	3	97852367	97852367	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:97852367C>G	ENST00000354565.2	+	1	826	c.826C>G	c.(826-828)Cta>Gta	p.L276V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGTGGAGCCTCTATTCTACAC	0.393																																						uc011bgt.1		NA																	0				ovary(1)|breast(1)	2						c.(826-828)CTA>GTA		olfactory receptor, family 5, subfamily H,							109.0	115.0	113.0					3																	97852367		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852367C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.826C>G	3.37:g.97852367C>G	ENSP00000346575:p.Leu276Val						p.L276V	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	826	+			276			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.826C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.213681	0.00024	.	.	ENSG00000231192	ENST00000354565	T	0.00020	9.04	3.57	-0.14	0.13456	GPCR, rhodopsin-like superfamily (1);	0.476818	0.15358	N	0.266593	T	0.00039	0.0001	N	0.02665	-0.54	0.09310	N	1	B	0.21753	0.06	B	0.30495	0.116	T	0.24083	-1.0170	10	0.02654	T	1	.	6.5634	0.22499	0.0:0.4294:0.4412:0.1294	.	276	A6NKK0	OR5H1_HUMAN	V	276	ENSP00000346575:L276V	ENSP00000346575:L276V	L	+	1	2	OR5H1	99335057	0.000000	0.05858	0.058000	0.19502	0.010000	0.07245	-2.648000	0.00859	0.088000	0.17205	0.195000	0.17529	CTA		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		13	101	0	0	0	0	13	101				
MYH15	22989	broad.mit.edu	37	3	108135752	108135752	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:108135752C>G	ENST00000273353.3	-	30	3971	c.3915G>C	c.(3913-3915)gaG>gaC	p.E1305D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1305						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGCCTCCTTCTCTTCAAGCC	0.438																																						uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(3913-3915)GAG>GAC		myosin, heavy polypeptide 15							102.0	100.0	100.0					3																	108135752		1838	4080	5918	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108135752C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3915G>C	3.37:g.108135752C>G	ENSP00000273353:p.Glu1305Asp						p.E1305D	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			30	3972	-			1305			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.3915G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.316058	0.23908	.	.	ENSG00000144821	ENST00000273353	T	0.79554	-1.28	4.62	-2.46	0.06461	Myosin tail (1);	.	.	.	.	T	0.71324	0.3326	L	0.49350	1.555	0.37857	D	0.929572	B	0.20887	0.049	B	0.33799	0.17	T	0.60078	-0.7333	9	0.44086	T	0.13	.	2.0604	0.03591	0.1291:0.3459:0.1307:0.3943	.	1305	Q9Y2K3	MYH15_HUMAN	D	1305	ENSP00000273353:E1305D	ENSP00000273353:E1305D	E	-	3	2	MYH15	109618442	0.042000	0.20092	0.023000	0.16930	0.216000	0.24613	-0.200000	0.09478	-0.355000	0.08199	-0.302000	0.09304	GAG		0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		8	61	0	0	0	0	8	61				
CD200R1	131450	broad.mit.edu	37	3	112648042	112648042	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:112648042A>C	ENST00000471858.1	-	3	678	c.446T>G	c.(445-447)gTg>gGg	p.V149G	CD200R1_ENST00000308611.3_Missense_Mutation_p.V172G|CD200R1_ENST00000295863.4_Missense_Mutation_p.V127G|CD200R1_ENST00000440122.2_Missense_Mutation_p.V172G|CD200R1_ENST00000490004.1_Missense_Mutation_p.V149G	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	149	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.V172A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CTTACCTAACACTTGGAGGTG	0.418																																						uc003dzk.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|pancreas(1)	3						c.(445-447)GTG>GGG		CD200 receptor 1 isoform d							107.0	102.0	104.0					3																	112648042		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648042A>C	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.446T>G	3.37:g.112648042A>C	ENSP00000418928:p.Val149Gly					CD200R1_uc003dzj.1_Missense_Mutation_p.V172G|CD200R1_uc011bhx.1_Missense_Mutation_p.V127G|CD200R1_uc003dzl.1_Missense_Mutation_p.V172G|CD200R1_uc003dzm.1_Missense_Mutation_p.V149G	p.V149G	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN			3	679	-			149			Ig-like C2-type.|Extracellular (Potential).		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.446T>G	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.704112	0.68615	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092855	0.47093	D	0.000255	T	0.77718	0.4172	M	0.85041	2.73	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.992;0.99;0.996;0.993	T	0.81640	-0.0841	10	0.87932	D	0	.	13.0684	0.59046	1.0:0.0:0.0:0.0	.	127;149;172;149;172	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	G	149;172;127;172;149	ENSP00000418928:V149G;ENSP00000311035:V172G;ENSP00000295863:V127G;ENSP00000405733:V172G;ENSP00000418801:V149G	ENSP00000295863:V127G	V	-	2	0	CD200R1	114130732	0.987000	0.35691	0.995000	0.50966	0.781000	0.44180	5.260000	0.65490	2.064000	0.61679	0.455000	0.32223	GTG		0.418	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		8	93	0	0	0	0	8	93				
CFAP44	55779	broad.mit.edu	37	3	113085109	113085109	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:113085109C>A	ENST00000295868.2	-	19	2654	c.2492G>T	c.(2491-2493)cGa>cTa	p.R831L	WDR52_ENST00000393845.2_Missense_Mutation_p.R831L	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GACATAGACTCGAATTGCTCC	0.308																																						uc003eae.1		NA																	0				central_nervous_system(1)	1						c.(2491-2493)CGA>CTA		WD repeat domain 52 isoform 2							86.0	80.0	82.0					3																	113085109		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113085109C>A																												ENST00000295868.2:c.2492G>T	3.37:g.113085109C>A	ENSP00000295868:p.Arg831Leu					WDR52_uc003ead.1_Missense_Mutation_p.R12L	p.R831L	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			19	2538	-			831			WD 8.			Missense_Mutation	SNP	ENST00000295868.2	37	c.2492G>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332876	0.81801	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.19105	2.17;2.17	5.59	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.44393	0.1291	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.91635	0.894;0.999	T	0.36432	-0.9748	8	.	.	.	.	12.9349	0.58307	0.0:0.9237:0.0:0.0763	.	831;831	Q96MT7;Q96MT7-2	WDR52_HUMAN;.	L	831	ENSP00000377428:R831L;ENSP00000295868:R831L	.	R	-	2	0	WDR52	114567799	1.000000	0.71417	0.979000	0.43373	0.916000	0.54674	5.523000	0.67099	1.499000	0.48617	0.650000	0.86243	CGA		0.308	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			10	30	1	0	0.000442599	0.000761358	10	30				
TMEM39A	55254	broad.mit.edu	37	3	119156656	119156656	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:119156656G>A	ENST00000319172.5	-	6	1290	c.870C>T	c.(868-870)ttC>ttT	p.F290F	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	290						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGAGGGAGTTGAAGAGAACCT	0.448																																						uc003eck.1		NA																	0				ovary(1)|breast(1)	2						c.(868-870)TTC>TTT		transmembrane protein 39A							140.0	120.0	127.0					3																	119156656		2203	4300	6503	SO:0001819	synonymous_variant	55254					integral to membrane		g.chr3:119156656G>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.870C>T	3.37:g.119156656G>A						TMEM39A_uc003ecl.1_Silent_p.F138F	p.F290F	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	6	1233	-			290			Helical; (Potential).		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Silent	SNP	ENST00000319172.5	37	c.870C>T	CCDS2987.1																																																																																				0.448	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		7	37	0	0	0	0	7	37				
ADPRH	141	broad.mit.edu	37	3	119306495	119306495	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:119306495G>T	ENST00000478399.1	+	4	2249	c.844G>T	c.(844-846)Gtt>Ttt	p.V282F	ADPRH_ENST00000465513.1_Missense_Mutation_p.V282F|ADPRH_ENST00000357003.3_Missense_Mutation_p.V282F|ADPRH_ENST00000478927.1_Missense_Mutation_p.V282F|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	282					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTACGATGCTGTTCTTGCTGC	0.577																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.2		NA																	0				ovary(1)	1						c.(844-846)GTT>TTT		ADP-ribosylarginine hydrolase							103.0	88.0	93.0					3																	119306495		2203	4300	6503	SO:0001583	missense	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119306495G>T	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.844G>T	3.37:g.119306495G>T	ENSP00000420200:p.Val282Phe					ADPRH_uc010hqv.2_Missense_Mutation_p.V282F|ADPRH_uc011bjb.1_Missense_Mutation_p.V175F|ADPRH_uc003ect.2_Missense_Mutation_p.V282F	p.V282F	NM_001125	NP_001116	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	5	1142	+		Lung NSC(201;0.0977)	282					B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	c.844G>T	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407113	0.25378	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	6.16	-7.12	0.01537	.	0.626306	0.16734	N	0.201702	T	0.10380	0.0254	N	0.05351	-0.065	0.28167	N	0.928723	B	0.17038	0.02	B	0.12156	0.007	T	0.21177	-1.0253	10	0.21540	T	0.41	-20.3314	7.8184	0.29274	0.3339:0.4113:0.2548:0.0	.	282	P54922	ADPRH_HUMAN	F	282	ENSP00000420200:V282F;ENSP00000417528:V282F;ENSP00000349496:V282F;ENSP00000417430:V282F	ENSP00000349496:V282F	V	+	1	0	ADPRH	120789185	0.000000	0.05858	0.527000	0.27925	0.010000	0.07245	-0.864000	0.04254	-1.107000	0.03004	-0.834000	0.03071	GTT		0.577	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		16	50	1	0	4.75e-09	9.27e-09	16	50				
STXBP5L	9515	broad.mit.edu	37	3	120998664	120998664	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:120998664G>T	ENST00000273666.6	+	19	2242	c.1971G>T	c.(1969-1971)ggG>ggT	p.G657G	STXBP5L_ENST00000497029.1_Silent_p.G657G|STXBP5L_ENST00000492541.1_Silent_p.G657G|STXBP5L_ENST00000471454.1_Silent_p.G657G|STXBP5L_ENST00000472879.1_Silent_p.G657G	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	657					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)		TTGCATTTGGGAACTGCAATG	0.353																																						uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(1969-1971)GGG>GGT		syntaxin binding protein 5-like							165.0	154.0	158.0					3																	120998664		1873	4098	5971	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120998664G>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.1971G>T	3.37:g.120998664G>T						STXBP5L_uc011bji.1_Silent_p.G657G	p.G657G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	19	2111	+			657			WD 10.		Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.1971G>T	CCDS43137.1																																																																																				0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			11	75	1	0	2.81e-09	5.49e-09	11	75				
POLQ	10721	broad.mit.edu	37	3	121217352	121217352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:121217352G>A	ENST00000264233.5	-	13	2253	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	709					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTCGATGCTGTCTCTCAGTT	0.473								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2125-2127)CAG>TAG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							195.0	174.0	181.0					3																	121217352		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121217352G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2125C>T	3.37:g.121217352G>A	ENSP00000264233:p.Gln709*						p.Q709*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	13	2254	-			709					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.2125C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	41	8.972360	0.99021	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.1111	0.97911	0.0:0.0:1.0:0.0	.	.	.	.	X	332;709;845	.	ENSP00000264233:Q709X	Q	-	1	0	POLQ	122700042	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.334000	0.96470	2.741000	0.93983	0.655000	0.94253	CAG		0.473	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		7	131	0	0	0	0	7	131				
PARP14	54625	broad.mit.edu	37	3	122437543	122437543	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122437543C>G	ENST00000474629.2	+	14	4811	c.4545C>G	c.(4543-4545)atC>atG	p.I1515M	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGCGATGATCAAGAGAGTTC	0.383																																						uc003efq.3		NA																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(4543-4545)ATC>ATG		poly (ADP-ribose) polymerase family, member 14							211.0	206.0	207.0					3																	122437543		1904	4141	6045	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437543C>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4545C>G	3.37:g.122437543C>G	ENSP00000418194:p.Ile1515Met					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.I1232M|PARP14_uc003efs.1_Missense_Mutation_p.I1232M	p.I1515M	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4604	+			1515					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.4545C>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006610	0.35415	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.31769	1.48	5.05	0.147	0.14838	.	0.249451	0.33040	N	0.005341	T	0.18593	0.0446	L	0.50919	1.6	0.49582	D	0.999802	P;P	0.38922	0.587;0.651	B;B	0.32465	0.146;0.115	T	0.05162	-1.0902	10	0.56958	D	0.05	.	1.6335	0.02737	0.1324:0.3852:0.2576:0.2248	.	1515;1515	Q460N5-4;Q460N5	.;PAR14_HUMAN	M	1515;1434;118;511	ENSP00000418194:I1515M	ENSP00000310633:I118M	I	+	3	3	PARP14	123920233	0.881000	0.30235	0.980000	0.43619	0.966000	0.64601	-0.046000	0.11983	-0.164000	0.10927	0.650000	0.86243	ATC		0.383	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		21	229	0	0	0	0	21	229				
PDIA5	10954	broad.mit.edu	37	3	122811251	122811251	+	Silent	SNP	G	G	T	rs139086659	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122811251G>T	ENST00000316218.7	+	3	314	c.219G>T	c.(217-219)gcG>gcT	p.A73A		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	73					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGCCCAGGCGGTGAAAGGAC	0.527																																						uc003egc.1		NA																	0				ovary(1)	1						c.(217-219)GCG>GCT		protein disulfide isomerase A5 precursor							120.0	111.0	114.0					3																	122811251		2203	4300	6503	SO:0001819	synonymous_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122811251G>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.219G>T	3.37:g.122811251G>T						PDIA5_uc003egd.1_RNA	p.A73A	NM_006810	NP_006801	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	3	275	+			73					D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	c.219G>T	CCDS3020.1																																																																																				0.527	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		12	52	1	0	0.00010058	0.000176062	12	52				
PDIA5	10954	broad.mit.edu	37	3	122842957	122842957	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:122842957C>T	ENST00000316218.7	+	9	749	c.654C>T	c.(652-654)atC>atT	p.I218I		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	218	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTGAAAACATCAAGGAGGAGT	0.557																																						uc003egc.1		NA																	0				ovary(1)	1						c.(652-654)ATC>ATT		protein disulfide isomerase A5 precursor							68.0	63.0	64.0					3																	122842957		2203	4300	6503	SO:0001819	synonymous_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122842957C>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.654C>T	3.37:g.122842957C>T						PDIA5_uc003egd.1_RNA	p.I218I	NM_006810	NP_006801	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	9	710	+			218			Thioredoxin 1.		D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	c.654C>T	CCDS3020.1																																																																																				0.557	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		17	62	0	0	0	0	17	62				
ALDH1L1	10840	broad.mit.edu	37	3	125879705	125879705	+	Missense_Mutation	SNP	C	C	A	rs201748366		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:125879705C>A	ENST00000393434.2	-	2	467	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	ALDH1L1_ENST00000455064.2_5'UTR|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D40Y|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D50Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D40Y|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D40Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	40	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCAGGGGGTCGGCCTTTCCA	0.597																																						uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(118-120)GAC>TAC		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						120.0	113.0	115.0					3																	125879705		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125879705C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.118G>T	3.37:g.125879705C>A	ENSP00000377083:p.Asp40Tyr					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.D40Y|ALDH1L1_uc010hsf.1_Silent_p.P4P|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR	p.D40Y	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	2	308	-			40			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.118G>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482591	0.63962	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356;ENST00000509952	T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.76	4.76	0.60689	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93336	0.6705	10	0.87932	D	0	.	15.3094	0.74019	0.0:1.0:0.0:0.0	.	40;40	E9PBX3;O75891	.;AL1L1_HUMAN	Y	50;40;40;40;40;40;40;40;40	ENSP00000273450:D50Y;ENSP00000420293:D40Y;ENSP00000395881:D40Y;ENSP00000377083:D40Y;ENSP00000377081:D40Y;ENSP00000418711:D40Y;ENSP00000419826:D40Y;ENSP00000419955:D40Y;ENSP00000426594:D40Y	ENSP00000273450:D50Y	D	-	1	0	ALDH1L1	127362395	1.000000	0.71417	0.965000	0.40720	0.451000	0.32288	7.399000	0.79935	2.466000	0.83321	0.467000	0.42956	GAC		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		18	102	1	0	1.02e-10	2.04e-10	18	102				
ABTB1	80325	broad.mit.edu	37	3	127395201	127395201	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:127395201G>A	ENST00000232744.8	+	5	493	c.407G>A	c.(406-408)cGt>cAt	p.R136H	ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000453791.2_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTGGGTGCACGTAGTGCCTAC	0.582																																						uc003ejt.2		NA																	0					0						c.(406-408)CGT>CAT		ankyrin repeat and BTB (POZ) domain containing 1							171.0	136.0	148.0					3																	127395201		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127395201G>A	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.407G>A	3.37:g.127395201G>A	ENSP00000232744:p.Arg136His					ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.R111H|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	p.R136H	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			5	495	+			136			BTB 1.			Missense_Mutation	SNP	ENST00000232744.8	37	c.407G>A	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	g	17.67	3.445892	0.63178	.	.	ENSG00000114626	ENST00000232744	T	0.69175	-0.38	4.72	4.72	0.59763	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.84918	0.0852	10	0.33141	T	0.24	-1.4406	17.7184	0.88344	0.0:0.0:1.0:0.0	.	136;111	Q969K4;Q969K4-3	ABTB1_HUMAN;.	H	136	ENSP00000232744:R136H	ENSP00000232744:R136H	R	+	2	0	ABTB1	128877891	1.000000	0.71417	0.113000	0.21522	0.005000	0.04900	6.630000	0.74272	2.166000	0.68216	0.556000	0.70494	CGT		0.582	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		7	125	0	0	0	0	7	125				
ATP2C1	27032	broad.mit.edu	37	3	130649306	130649306	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:130649306T>A	ENST00000510168.1	+	3	603	c.53T>A	c.(52-54)aTt>aAt	p.I18N	ATP2C1_ENST00000504948.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I2N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I18N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I52N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I2N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I52N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I18N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I18N|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I18N|RP11-39E3.3_ENST00000504737.1_RNA|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I18N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	18					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGACAATGATTCCTGTATTG	0.363									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	0				skin(1)	1						c.(52-54)ATT>AAT		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						128.0	123.0	124.0					3																	130649306		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130649306T>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.53T>A	3.37:g.130649306T>A	ENSP00000427461:p.Ile18Asn					ATP2C1_uc011blg.1_Missense_Mutation_p.I52N|ATP2C1_uc011blh.1_Missense_Mutation_p.I52N|ATP2C1_uc011bli.1_Missense_Mutation_p.I52N|ATP2C1_uc003enk.2_Missense_Mutation_p.I2N|ATP2C1_uc003enm.2_Missense_Mutation_p.I18N|ATP2C1_uc003enn.2_Missense_Mutation_p.I2N|ATP2C1_uc003eno.2_Missense_Mutation_p.I18N|ATP2C1_uc003enp.2_Missense_Mutation_p.I18N|ATP2C1_uc003enq.2_Missense_Mutation_p.I18N|ATP2C1_uc003enr.2_Missense_Mutation_p.I18N|ATP2C1_uc003ens.2_Missense_Mutation_p.I18N|ATP2C1_uc003ent.2_Missense_Mutation_p.I18N	p.I18N	NM_014382	NP_055197	P98194	AT2C1_HUMAN			3	275	+			18			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.53T>A	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106260	0.77096	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000505072;ENST00000509662;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000508297;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.93547	-3.07;-3.24;-3.11;-3.01;-3.19;-3.09;-3.09;-3.07;-3.11;-3.2;-3.09;-3.11;-3.11	5.67	5.67	0.87782	.	0.065210	0.64402	D	0.000010	D	0.90215	0.6941	N	0.14661	0.345	0.47659	D	0.99948	P;P;B;P;B;P;B	0.50943	0.897;0.94;0.437;0.713;0.437;0.572;0.437	P;P;B;B;B;B;B	0.50314	0.637;0.462;0.122;0.419;0.171;0.419;0.239	D	0.90284	0.4317	10	0.34782	T	0.22	.	15.8883	0.79269	0.0:0.0:0.0:1.0	.	52;52;52;18;52;18;18	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	N	2;2;2;52;52;18;18;2;2;18;18;18;18;18;18;2;17	ENSP00000423774:I2N;ENSP00000425320:I2N;ENSP00000421326:I2N;ENSP00000376914:I52N;ENSP00000432956:I52N;ENSP00000427461:I18N;ENSP00000424783:I18N;ENSP00000423330:I2N;ENSP00000422872:I2N;ENSP00000329664:I18N;ENSP00000395809:I18N;ENSP00000352665:I18N;ENSP00000402677:I18N	ENSP00000329664:I18N	I	+	2	0	ATP2C1	132131996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.268000	0.65536	2.159000	0.67721	0.533000	0.62120	ATT		0.363	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		7	36	0	0	0	0	7	36				
ACKR4	51554	broad.mit.edu	37	3	132320167	132320167	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:132320167C>G	ENST00000249887.2	+	2	1022	c.926C>G	c.(925-927)tCt>tGt	p.S309C	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	309					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										ATGGGAGCATCTTTCAAAAAC	0.443																																						uc003eow.2		NA																	0					0						c.(925-927)TCT>TGT		chemokine (C-C motif) receptor-like 1							70.0	74.0	73.0					3																	132320167		2182	4285	6467	SO:0001583	missense	51554				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:132320167C>G	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.926C>G	3.37:g.132320167C>G	ENSP00000249887:p.Ser309Cys					ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.S309C	p.S309C	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN			2	1009	+			309			Helical; Name=7; (Potential).		B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.926C>G	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404925	0.62288	.	.	ENSG00000129048	ENST00000249887	T	0.38401	1.14	5.67	4.8	0.61643	.	0.055536	0.85682	D	0.000000	T	0.38957	0.1060	N	0.08118	0	0.51482	D	0.999927	D	0.89917	1.0	D	0.67231	0.95	T	0.51560	-0.8690	10	0.87932	D	0	.	14.6832	0.69033	0.0:0.9305:0.0:0.0695	.	309	Q9NPB9	CCRL1_HUMAN	C	309	ENSP00000249887:S309C	ENSP00000249887:S309C	S	+	2	0	CCRL1	133802857	0.997000	0.39634	0.966000	0.40874	0.904000	0.53231	3.935000	0.56560	1.427000	0.47276	0.655000	0.94253	TCT		0.443	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		7	93	0	0	0	0	7	93				
DZIP1L	199221	broad.mit.edu	37	3	137803006	137803006	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:137803006G>C	ENST00000327532.2	-	8	1514	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Silent_p.L384L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	384					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GCTGGGCACGGAGGGTGCTGA	0.612																																						uc003erq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1150-1152)CTC>CTG		DAZ interacting protein 1-like							114.0	105.0	108.0					3																	137803006		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137803006G>C	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1152C>G	3.37:g.137803006G>C						DZIP1L_uc003err.1_Silent_p.L384L	p.L384L	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			8	1515	-			384			Potential.		C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1152C>G	CCDS3096.1																																																																																				0.612	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		5	91	0	0	0	0	5	91				
COPB2	9276	broad.mit.edu	37	3	139090585	139090585	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:139090585T>C	ENST00000333188.5	-	10	1366	c.1185A>G	c.(1183-1185)gcA>gcG	p.A395A	COPB2_ENST00000507777.1_Silent_p.A366A	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	395					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CGTGGGCCCATGCAAACTCCT	0.453																																						uc003etf.3		NA																	0				ovary(2)	2						c.(1183-1185)GCA>GCG		coatomer protein complex, subunit beta 2 (beta							174.0	152.0	160.0					3																	139090585		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139090585T>C	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1185A>G	3.37:g.139090585T>C						COPB2_uc011bmv.1_Silent_p.A366A|COPB2_uc010hui.2_Silent_p.A366A	p.A395A	NM_004766	NP_004757	P35606	COPB2_HUMAN			10	1315	-			395			WD 8.		B4DZI8	Silent	SNP	ENST00000333188.5	37	c.1185A>G	CCDS3108.1																																																																																				0.453	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		7	102	0	0	0	0	7	102				
TRIM42	287015	broad.mit.edu	37	3	140397246	140397246	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:140397246G>C	ENST00000286349.3	+	1	366	c.175G>C	c.(175-177)Gag>Cag	p.E59Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	59	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACCTGTTCTGAGAGCCCCAA	0.537																																						uc003eto.1		NA																	0				lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(175-177)GAG>CAG		tripartite motif-containing 42							142.0	118.0	126.0					3																	140397246		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397246G>C	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.175G>C	3.37:g.140397246G>C	ENSP00000286349:p.Glu59Gln						p.E59Q	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			1	366	+			59			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.175G>C	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850123	0.51270	.	.	ENSG00000155890	ENST00000286349	T	0.47177	0.85	5.53	5.53	0.82687	.	0.571093	0.16929	N	0.193757	T	0.38719	0.1051	N	0.14661	0.345	0.24160	N	0.995662	P	0.41313	0.745	B	0.43623	0.425	T	0.40156	-0.9578	10	0.72032	D	0.01	-0.43	14.9755	0.71267	0.0:0.0:1.0:0.0	.	59	Q8IWZ5	TRI42_HUMAN	Q	59	ENSP00000286349:E59Q	ENSP00000286349:E59Q	E	+	1	0	TRIM42	141879936	1.000000	0.71417	0.837000	0.33122	0.703000	0.40648	5.648000	0.67930	2.597000	0.87782	0.563000	0.77884	GAG		0.537	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		7	105	0	0	0	0	7	105				
ATR	545	broad.mit.edu	37	3	142224127	142224127	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:142224127G>C	ENST00000350721.4	-	29	5171	c.5050C>G	c.(5050-5052)Cat>Gat	p.H1684D	ATR_ENST00000383101.3_Missense_Mutation_p.H1620D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1684	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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						TCAGGTTCATGCATAGCAGCA	0.363								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.(5050-5052)CAT>GAT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							166.0	168.0	167.0					3																	142224127		2203	4300	6503	SO:0001583	missense	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.chr3:142224127G>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.5050C>G	3.37:g.142224127G>C	ENSP00000343741:p.His1684Asp						p.H1684D	NM_001184	NP_001175	Q13535	ATR_HUMAN			29	5172	-			1684			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.5050C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	3.526	-0.096838	0.07010	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.06687	3.27;3.27	5.54	4.66	0.58398	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.049436	0.85682	N	0.000000	T	0.04003	0.0112	N	0.04355	-0.22	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	10	0.02654	T	1	-11.2785	15.9636	0.79950	0.0:0.1463:0.8536:0.0	.	1684	Q13535	ATR_HUMAN	D	1684;1620	ENSP00000343741:H1684D;ENSP00000372581:H1620D	ENSP00000343741:H1684D	H	-	1	0	ATR	143706817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.587000	0.74071	1.292000	0.44672	0.655000	0.94253	CAT		0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		16	215	0	0	0	0	16	215				
ZIC4	84107	broad.mit.edu	37	3	147113922	147113922	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:147113922G>C	ENST00000383075.3	-	3	917	c.405C>G	c.(403-405)gcC>gcG	p.A135A	ZIC4_ENST00000425731.3_Silent_p.A173A|ZIC4_ENST00000525172.2_Silent_p.A185A|ZIC4_ENST00000484399.1_Silent_p.A135A|ZIC4_ENST00000473123.1_Silent_p.A135A|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	135						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGTGCCGTCGGCCGCCAGCC	0.657																																						uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(403-405)GCC>GCG		zinc finger protein of the cerebellum 4							27.0	35.0	32.0					3																	147113922		2191	4279	6470	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113922G>C	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.405C>G	3.37:g.147113922G>C						ZIC4_uc003ewc.1_Silent_p.A65A|ZIC4_uc011bno.1_Silent_p.A185A	p.A135A	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	678	-			135			C2H2-type 1; atypical.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.405C>G	CCDS43160.1																																																																																				0.657	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			12	53	0	0	0	0	12	53				
ERICH6	131831	broad.mit.edu	37	3	150421607	150421607	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:150421607C>T	ENST00000295910.6	-	1	131	c.79G>A	c.(79-81)Gag>Aag	p.E27K	FAM194A_ENST00000491361.1_5'UTR|RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						tcctcctcctcctctaactcc	0.632																																						uc003eyg.2		NA																	0				skin(2)|ovary(1)	3						c.(79-81)GAG>AAG		hypothetical protein LOC131831							57.0	56.0	56.0					3																	150421607		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150421607C>T																												ENST00000295910.6:c.79G>A	3.37:g.150421607C>T	ENSP00000295910:p.Glu27Lys					FAM194A_uc003eyh.2_5'UTR	p.E27K	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			1	136	-			27			Glu-rich.			Missense_Mutation	SNP	ENST00000295910.6	37	c.79G>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438332	0.25900	.	.	ENSG00000163645	ENST00000295910;ENST00000474463;ENST00000498386	T;T;T	0.57907	2.65;0.37;2.18	2.89	2.01	0.26516	.	1.295330	0.05951	N	0.638762	T	0.32585	0.0834	N	0.14661	0.345	0.21802	N	0.999536	B	0.33238	0.403	B	0.30029	0.11	T	0.23119	-1.0197	10	0.26408	T	0.33	5.6736	6.019	0.19618	0.0:0.8551:0.0:0.1449	.	27	Q7L0X2	F194A_HUMAN	K	27	ENSP00000295910:E27K;ENSP00000419304:E27K;ENSP00000417780:E27K	ENSP00000295910:E27K	E	-	1	0	FAM194A	151904297	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.982000	0.03762	0.784000	0.33661	-0.291000	0.09656	GAG		0.632	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			8	34	0	0	0	0	8	34				
SIAH2	6478	broad.mit.edu	37	3	150460112	150460112	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:150460112C>G	ENST00000312960.3	-	2	1318	c.791G>C	c.(790-792)aGa>aCa	p.R264T		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	264	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAACTCCAGTCTGTAGGCAAA	0.567																																						uc003eyi.2		NA																	0				ovary(1)|lung(1)	2						c.(790-792)AGA>ACA		seven in absentia homolog 2							91.0	72.0	78.0					3																	150460112		2203	4300	6503	SO:0001583	missense	6478				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:150460112C>G	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.791G>C	3.37:g.150460112C>G	ENSP00000322457:p.Arg264Thr						p.R264T	NM_005067	NP_005058	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	1418	-			264			SBD.		O43270	Missense_Mutation	SNP	ENST00000312960.3	37	c.791G>C	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153623	0.94645	.	.	ENSG00000181788	ENST00000312960	T	0.27557	1.66	5.81	5.81	0.92471	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.88512	2.96	0.58432	D	0.999998	D	0.69078	0.997	D	0.63283	0.913	T	0.65179	-0.6231	10	0.46703	T	0.11	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	264	O43255	SIAH2_HUMAN	T	264	ENSP00000322457:R264T	ENSP00000322457:R264T	R	-	2	0	SIAH2	151942802	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	7.802000	0.85969	2.746000	0.94184	0.591000	0.81541	AGA		0.567	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067		4	66	0	0	0	0	4	66				
MED12L	116931	broad.mit.edu	37	3	151073819	151073819	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:151073819G>A	ENST00000474524.1	+	17	2586	c.2548G>A	c.(2548-2550)Gca>Aca	p.A850T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A710T|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	850						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)			AATTGACTTCGCAATACAGGT	0.448																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2548-2550)GCA>ACA		mediator of RNA polymerase II transcription,							157.0	145.0	149.0					3																	151073819		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151073819G>A	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.2548G>A	3.37:g.151073819G>A	ENSP00000417235:p.Ala850Thr					MED12L_uc011bnz.1_Missense_Mutation_p.A710T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A14T	p.A850T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		17	2586	+			850					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2548G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208007	0.79240	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.80738	-1.41;-1.41	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.969;0.999;0.999	P;D;D	0.77557	0.651;0.99;0.985	D	0.86589	0.1859	10	0.87932	D	0	-19.3628	19.064	0.93103	0.0:0.0:1.0:0.0	.	710;850;850	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	T	850;710	ENSP00000417235:A850T;ENSP00000273432:A710T	ENSP00000273432:A710T	A	+	1	0	MED12L	152556509	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	7.302000	0.78861	2.649000	0.89929	0.655000	0.94253	GCA		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		19	56	0	0	0	0	19	56				
LEKR1	389170	broad.mit.edu	37	3	156711004	156711004	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:156711004G>T	ENST00000470811.1	+	10	1470	c.135G>T	c.(133-135)ctG>ctT	p.L45L	LEKR1_ENST00000356539.4_Silent_p.L349L			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	45										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAATGAACTGGAGATAACCA	0.328																																						uc003fba.1		NA																	0					0						c.(133-135)CTG>CTT		leucine, glutamate and lysine rich 1							84.0	89.0	87.0					3																	156711004		2203	4297	6500	SO:0001819	synonymous_variant	389170							g.chr3:156711004G>T	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.135G>T	3.37:g.156711004G>T							p.L45L	NM_001004316	NP_001004316	Q6ZMV7	LEKR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		10	1470	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Silent	SNP	ENST00000470811.1	37	c.135G>T																																																																																					0.328	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		21	88	1	0	4.27e-12	8.67e-12	21	88				
GFM1	85476	broad.mit.edu	37	3	158399882	158399882	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:158399882T>A	ENST00000486715.1	+	14	2057	c.1700T>A	c.(1699-1701)tTg>tAg	p.L567*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.L567*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.L586*	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TACACTAAATTGGAATTTTCA	0.368																																						uc003fce.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1699-1701)TTG>TAG		G elongation factor, mitochondrial 1 precursor							55.0	55.0	55.0					3																	158399882		2203	4300	6503	SO:0001587	stop_gained	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158399882T>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1700T>A	3.37:g.158399882T>A	ENSP00000419038:p.Leu567*					GFM1_uc003fcd.2_Nonsense_Mutation_p.L567*|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Nonsense_Mutation_p.L498*	p.L567*	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		14	1807	+			567						Nonsense_Mutation	SNP	ENST00000486715.1	37	c.1700T>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	T	39	7.835039	0.98516	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	6.03	6.03	0.97812	.	0.186976	0.34223	N	0.004141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	9.1479	16.5582	0.84512	0.0:0.0:0.0:1.0	.	.	.	.	X	567;567;586	.	ENSP00000264263:L586X	L	+	2	0	GFM1	159882576	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	7.687000	0.84139	2.308000	0.77769	0.533000	0.62120	TTG		0.368	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		5	25	0	0	0	0	5	25				
KPNA4	3840	broad.mit.edu	37	3	160243624	160243624	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:160243624T>A	ENST00000334256.4	-	10	1040	c.735A>T	c.(733-735)ccA>ccT	p.P245P		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	245					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CACAAAGGGCTGGAAGAATCT	0.264																																						uc003fdn.2		NA																	0					0						c.(733-735)CCA>CCT		karyopherin alpha 4							27.0	29.0	28.0					3																	160243624		2186	4290	6476	SO:0001819	synonymous_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160243624T>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.735A>T	3.37:g.160243624T>A							p.P245P	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		10	1041	-			245			ARM 5.		A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	37	c.735A>T	CCDS3191.1																																																																																				0.264	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		4	19	0	0	0	0	4	19				
GOLIM4	27333	broad.mit.edu	37	3	167750532	167750532	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:167750532G>A	ENST00000470487.1	-	9	1641	c.952C>T	c.(952-954)Cca>Tca	p.P318S	GOLIM4_ENST00000309027.4_Missense_Mutation_p.P290S	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	318	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATTGGCTCTGGGGGAGCCTGA	0.507																																						uc003ffe.2		NA																	0				breast(4)|skin(1)	5						c.(952-954)CCA>TCA		golgi integral membrane protein 4							123.0	124.0	124.0					3																	167750532		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750532G>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.952C>T	3.37:g.167750532G>A	ENSP00000417354:p.Pro318Ser					GOLIM4_uc011bpe.1_Missense_Mutation_p.P318S|GOLIM4_uc011bpf.1_Missense_Mutation_p.P290S|GOLIM4_uc011bpg.1_Missense_Mutation_p.P290S	p.P318S	NM_014498	NP_055313	O00461	GOLI4_HUMAN			9	1296	-			318			Glu-rich.|Lumenal (Potential).			Missense_Mutation	SNP	ENST00000470487.1	37	c.952C>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	G	1.800	-0.477413	0.04414	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.24	3.44	0.39384	.	1.069950	0.07074	N	0.835955	T	0.25121	0.0610	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28038	-1.0056	9	0.20046	T	0.44	-0.8716	5.8803	0.18852	0.0:0.5121:0.3192:0.1687	.	290;318	F8W785;O00461	.;GOLI4_HUMAN	S	318;290	.	ENSP00000309893:P290S	P	-	1	0	GOLIM4	169233226	0.050000	0.20438	0.001000	0.08648	0.006000	0.05464	2.077000	0.41557	0.607000	0.29982	-0.332000	0.08345	CCA		0.507	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			58	101	0	0	0	0	58	101				
FNDC3B	64778	broad.mit.edu	37	3	172025215	172025215	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:172025215A>T	ENST00000336824.4	+	10	1223	c.1124A>T	c.(1123-1125)cAc>cTc	p.H375L	FNDC3B_ENST00000415807.2_Missense_Mutation_p.H375L|FNDC3B_ENST00000416957.1_Missense_Mutation_p.H375L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	375	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCACCACCCACAGCTGTGCA	0.512																																						uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(1123-1125)CAC>CTC		fibronectin type III domain containing 3B							145.0	121.0	129.0					3																	172025215		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172025215A>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1124A>T	3.37:g.172025215A>T	ENSP00000338523:p.His375Leu					FNDC3B_uc003fhz.3_Missense_Mutation_p.H375L|FNDC3B_uc003fia.2_Missense_Mutation_p.H306L	p.H375L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	10	1296	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		375					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.1124A>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952662	0.53293	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.35973	1.28;1.28;1.28	5.93	5.93	0.95920	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.085474	0.85682	D	0.000000	T	0.15132	0.0365	N	0.01529	-0.815	0.80722	D	1	P;B	0.36535	0.557;0.001	B;B	0.35971	0.215;0.002	T	0.27536	-1.0071	10	0.10636	T	0.68	-19.5227	16.0558	0.80805	1.0:0.0:0.0:0.0	.	375;375	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	L	375	ENSP00000411242:H375L;ENSP00000338523:H375L;ENSP00000389094:H375L	ENSP00000338523:H375L	H	+	2	0	FNDC3B	173507909	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.260000	0.89857	2.281000	0.76405	0.533000	0.62120	CAC		0.512	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		23	80	0	0	0	0	23	80				
NLGN1	22871	broad.mit.edu	37	3	173322659	173322659	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173322659G>T	ENST00000457714.1	+	3	700	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	NLGN1_ENST00000361589.4_Missense_Mutation_p.G91W|NLGN1_ENST00000545397.1_Missense_Mutation_p.G91W|NLGN1_ENST00000401917.3_Missense_Mutation_p.G91W	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	91					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCACCAACAGGGGAACGTCG	0.448																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(271-273)GGG>TGG		neuroligin 1							123.0	124.0	124.0					3																	173322659		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322659G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.271G>T	3.37:g.173322659G>T	ENSP00000392500:p.Gly91Trp					NLGN1_uc010hww.1_Missense_Mutation_p.G91W|NLGN1_uc003fip.1_Missense_Mutation_p.G91W	p.G91W	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	694	+	Ovarian(172;0.0025)		91			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.271G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895461	0.72639	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.93887	0.8044	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95948	0.8952	10	0.87932	D	0	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	91;91	D2X2H5;Q8N2Q7-2	.;.	W	91	ENSP00000392500:G91W;ENSP00000354541:G91W;ENSP00000410374:G91W;ENSP00000441108:G91W;ENSP00000385750:G91W	ENSP00000354541:G91W	G	+	1	0	NLGN1	174805353	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.420000	0.97426	2.809000	0.96659	0.467000	0.42956	GGG		0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		62	136	1	0	1.08e-43	2.33e-43	62	136				
NLGN1	22871	broad.mit.edu	37	3	173998723	173998723	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173998723A>C	ENST00000457714.1	+	7	2531	c.2102A>C	c.(2101-2103)aAg>aCg	p.K701T	NLGN1_ENST00000361589.4_Missense_Mutation_p.K701T|NLGN1_ENST00000545397.1_Missense_Mutation_p.K701T|NLGN1_ENST00000401917.3_Missense_Mutation_p.K741T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	718					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACTACAAAAAGGATAAGAGG	0.468																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2101-2103)AAG>ACG		neuroligin 1							94.0	90.0	92.0					3																	173998723		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998723A>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2102A>C	3.37:g.173998723A>C	ENSP00000392500:p.Lys701Thr					NLGN1_uc003fip.1_Missense_Mutation_p.K701T	p.K701T	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2525	+	Ovarian(172;0.0025)		718			Cytoplasmic (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2102A>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837185	0.91117	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	M	0.61703	1.905	0.80722	D	1	D	0.59357	0.985	P	0.61201	0.885	D	0.88470	0.3061	10	0.87932	D	0	.	16.2484	0.82467	1.0:0.0:0.0:0.0	.	701	Q8N2Q7-2	.	T	701;701;701;741	ENSP00000392500:K701T;ENSP00000354541:K701T;ENSP00000441108:K701T;ENSP00000385750:K741T	ENSP00000354541:K701T	K	+	2	0	NLGN1	175481417	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.291000	0.77112	0.533000	0.62120	AAG		0.468	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		20	78	0	0	0	0	20	78				
MCF2L2	23101	broad.mit.edu	37	3	182937691	182937691	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:182937691G>C	ENST00000328913.3	-	21	2620	c.2323C>G	c.(2323-2325)Cct>Gct	p.P775A	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P775A	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	775	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATATCTTCAGGAGACTCGAAA	0.348																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2323-2325)CCT>GCT		Rho family guanine-nucleotide exchange factor							82.0	83.0	83.0					3																	182937691		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182937691G>C	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2323C>G	3.37:g.182937691G>C	ENSP00000328118:p.Pro775Ala						p.P775A	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		21	2413	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		775			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2323C>G	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576399	0.45902	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.63255	-0.03;-0.03	4.05	3.16	0.36331	Dbl homology (DH) domain (5);	0.153110	0.31199	N	0.008061	T	0.43010	0.1228	L	0.28192	0.835	0.80722	D	1	B	0.32862	0.387	B	0.34873	0.191	T	0.23583	-1.0184	10	0.07030	T	0.85	.	9.7708	0.40589	0.0:0.21:0.7899:0.0	.	775	Q86YR7	MF2L2_HUMAN	A	775	ENSP00000328118:P775A;ENSP00000420070:P775A	ENSP00000328118:P775A	P	-	1	0	MCF2L2	184420385	0.999000	0.42202	0.998000	0.56505	0.900000	0.52787	1.882000	0.39648	1.259000	0.44117	0.655000	0.94253	CCT		0.348	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		12	188	0	0	0	0	12	188				
MCF2L2	23101	broad.mit.edu	37	3	183028720	183028720	+	Missense_Mutation	SNP	C	C	G	rs377706762		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:183028720C>G	ENST00000328913.3	-	9	1273	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	MCF2L2_ENST00000447025.2_Missense_Mutation_p.E326Q|MCF2L2_ENST00000414362.2_Missense_Mutation_p.E326Q|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E326Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	326							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAATCGTGCTCAAAATGCTGT	0.403																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(976-978)GAG>CAG		Rho family guanine-nucleotide exchange factor							104.0	101.0	102.0					3																	183028720		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183028720C>G	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.976G>C	3.37:g.183028720C>G	ENSP00000328118:p.Glu326Gln					MCF2L2_uc003flj.1_Missense_Mutation_p.E326Q|MCF2L2_uc003flp.1_Missense_Mutation_p.E361Q|MCF2L2_uc011bqs.1_RNA	p.E326Q	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		9	1066	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		326			Spectrin.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.976G>C	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612592	0.66672	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.89840	3.065	0.38574	D	0.950028	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.993;0.996;0.895	T	0.80668	-0.1280	10	0.87932	D	0	.	12.7739	0.57436	0.0:0.9196:0.0:0.0804	.	326;326;326	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	Q	326	ENSP00000328118:E326Q;ENSP00000420070:E326Q;ENSP00000388190:E326Q;ENSP00000414131:E326Q	ENSP00000328118:E326Q	E	-	1	0	MCF2L2	184511414	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.612000	0.74187	1.268000	0.44264	0.655000	0.94253	GAG		0.403	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		3	77	0	0	0	0	3	77				
ABCF3	55324	broad.mit.edu	37	3	183905711	183905711	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:183905711C>T	ENST00000429586.2	+	6	694	c.509C>T	c.(508-510)tCt>tTt	p.S170F	ABCF3_ENST00000292808.5_Missense_Mutation_p.S164F|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	170					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGGAATCATCTGGCAAGAAC	0.478																																						uc003fmz.2		NA																	0				ovary(3)|lung(1)	4						c.(508-510)TCT>TTT		ATP-binding cassette, sub-family F (GCN20),							131.0	136.0	134.0					3																	183905711		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183905711C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.509C>T	3.37:g.183905711C>T	ENSP00000411471:p.Ser170Phe					ABCF3_uc003fna.2_Missense_Mutation_p.S164F|ABCF3_uc003fnb.2_5'Flank	p.S170F	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	642	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		170					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.509C>T	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366477	0.82463	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92545	-3.06;-3.06	4.43	4.43	0.53597	.	0.155978	0.44688	D	0.000425	D	0.93871	0.8039	M	0.66939	2.045	0.58432	D	0.999999	D;P	0.61697	0.99;0.877	P;P	0.58577	0.841;0.698	D	0.94271	0.7511	10	0.87932	D	0	-8.7626	12.0122	0.53293	0.0:0.8256:0.1744:0.0	.	164;170	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	F	170;164	ENSP00000411471:S170F;ENSP00000292808:S164F	ENSP00000292808:S164F	S	+	2	0	ABCF3	185388405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.801000	0.69115	2.009000	0.58944	0.462000	0.41574	TCT		0.478	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		11	117	0	0	0	0	11	117				
KNG1	3827	broad.mit.edu	37	3	186450368	186450368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:186450368G>T	ENST00000265023.4	+	7	1047	c.835G>T	c.(835-837)Gag>Tag	p.E279*	RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Nonsense_Mutation_p.E243*|KNG1_ENST00000287611.2_Nonsense_Mutation_p.E279*	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	279	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CCCAGAGCTGGAGGAGACACT	0.448																																						uc011bsa.1		NA																	0				skin(1)	1						c.(835-837)GAG>TAG		kininogen 1 isoform 1	Ouabain(DB01092)						121.0	119.0	120.0					3																	186450368		2203	4300	6503	SO:0001587	stop_gained	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186450368G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.835G>T	3.37:g.186450368G>T	ENSP00000265023:p.Glu279*					KNG1_uc003fqr.2_Nonsense_Mutation_p.E279*	p.E279*	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	7	1047	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		279			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Nonsense_Mutation	SNP	ENST00000265023.4	37	c.835G>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976294	0.92982	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	.	.	.	5.14	-8.92	0.00774	.	0.980679	0.08344	N	0.960453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3747	9.202	0.37265	0.5746:0.2911:0.1342:0.0	.	.	.	.	X	279;279;243;267	.	ENSP00000265023:E279X	E	+	1	0	KNG1	187933062	0.023000	0.18921	0.132000	0.22025	0.831000	0.47069	-1.791000	0.01758	-2.041000	0.00915	-0.806000	0.03193	GAG		0.448	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		6	145	1	0	2.01e-06	3.72e-06	6	145				
CLRN2	645104	broad.mit.edu	37	4	17528565	17528565	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:17528565G>A	ENST00000511148.2	+	3	661	c.559G>A	c.(559-561)Gag>Aag	p.E187K	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	187						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACAGTATGAAGAGTCGTTTTG	0.517																																						uc003gpg.1		NA																	0					0						c.(559-561)GAG>AAG		clarin 2							109.0	118.0	115.0					4																	17528565		2153	4250	6403	SO:0001583	missense	645104					integral to membrane		g.chr4:17528565G>A		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.559G>A	4.37:g.17528565G>A	ENSP00000424711:p.Glu187Lys						p.E187K	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			3	661	+			187						Missense_Mutation	SNP	ENST00000511148.2	37	c.559G>A	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481342	0.26598	.	.	ENSG00000249581	ENST00000511148	T	0.77750	-1.12	5.76	4.91	0.64330	.	0.313090	0.36591	N	0.002520	T	0.70011	0.3175	L	0.36672	1.1	0.35080	D	0.763285	B	0.24043	0.096	B	0.24701	0.055	T	0.71497	-0.4575	10	0.27785	T	0.31	-28.2478	15.7251	0.77751	0.0:0.2575:0.7425:0.0	.	187	A0PK11	CLRN2_HUMAN	K	187	ENSP00000424711:E187K	ENSP00000424711:E187K	E	+	1	0	CLRN2	17137663	1.000000	0.71417	0.888000	0.34837	0.832000	0.47134	3.284000	0.51708	1.421000	0.47157	0.655000	0.94253	GAG		0.517	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		7	43	0	0	0	0	7	43				
KCTD8	386617	broad.mit.edu	37	4	44177183	44177183	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:44177183C>A	ENST00000360029.3	-	2	1329	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	349					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACAGGAAGTCCCACTTTCACT	0.463										HNSCC(17;0.042)																												uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1045-1047)GGG>GTG		potassium channel tetramerisation domain							138.0	129.0	132.0					4																	44177183		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177183C>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1046G>T	4.37:g.44177183C>A	ENSP00000353129:p.Gly349Val	HNSCC(17;0.042)					p.G349V	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1330	-			349					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1046G>T	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.34|18.34	3.602223|3.602223	0.66445|0.66445	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000360029|ENST00000515268	T|.	0.51817|.	0.69|.	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	0.000000|0.000000	0.49916|0.49916	D|D	0.000121|0.000121	T|.	0.61211|.	0.2329|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.66979|.	0.948|.	T|.	0.65730|.	-0.6097|.	10|.	0.87932|0.87932	D|D	0|0	.|.	17.0403|17.0403	0.86487|0.86487	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	349|.	Q6ZWB6|.	KCTD8_HUMAN|.	V|X	349|85	ENSP00000353129:G349V|.	ENSP00000353129:G349V|ENSP00000424862:G85X	G|G	-|-	2|1	0|0	KCTD8|KCTD8	43871940|43871940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.189000|7.189000	0.77747|0.77747	2.571000|2.571000	0.86741|0.86741	0.585000|0.585000	0.79938|0.79938	GGG|GGA		0.463	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			13	30	1	0	4.38e-07	8.27e-07	13	30				
SPATA18	132671	broad.mit.edu	37	4	52938153	52938153	+	Silent	SNP	C	C	A	rs146272260		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:52938153C>A	ENST00000295213.4	+	6	963	c.589C>A	c.(589-591)Cgg>Agg	p.R197R	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Silent_p.R165R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	197					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGAGAATAGGCGGTCAGAGCC	0.527																																						uc003gzl.2		NA																	0				ovary(2)|skin(2)	4						c.(589-591)CGG>AGG		spermatogenesis associated 18 homolog							71.0	67.0	68.0					4																	52938153		2203	4300	6503	SO:0001819	synonymous_variant	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52938153C>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.589C>A	4.37:g.52938153C>A						SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Silent_p.R165R|SPATA18_uc003gzk.1_Silent_p.R197R	p.R197R	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		6	867	+			197					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	c.589C>A	CCDS3489.1																																																																																				0.527	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		7	38	1	0	8.13e-05	0.00014282	7	38				
PDGFRA	5156	broad.mit.edu	37	4	55131137	55131137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:55131137C>A	ENST00000257290.5	+	5	1011	c.680C>A	c.(679-681)tCa>tAa	p.S227*	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	227	Ig-like C2-type 3.				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)			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)	GTGTATAAGTCAGGGGAAACG	0.433			"""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)	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		0				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.(679-681)TCA>TAA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						171.0	165.0	167.0					4																	55131137		2203	4300	6503	SO:0001587	stop_gained	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.chr4:55131137C>A	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.680C>A	4.37:g.55131137C>A	ENSP00000257290:p.Ser227*	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Nonsense_Mutation_p.S121*|PDGFRA_uc003ham.2_RNA	p.S227*	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)		5	1011	+	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)		227			Ig-like C2-type 3.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Nonsense_Mutation	SNP	ENST00000257290.5	37	c.680C>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	38	6.676596	0.97755	.	.	ENSG00000134853	ENST00000257290	.	.	.	5.26	5.26	0.73747	.	1.250420	0.06421	U	0.722352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	18.8692	0.92306	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000257290:S227X	S	+	2	0	PDGFRA	54825894	0.190000	0.23276	0.849000	0.33467	0.799000	0.45148	2.547000	0.45786	2.470000	0.83445	0.491000	0.48974	TCA		0.433	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		26	100	1	0	2.45e-14	5.11e-14	26	100				
UGT2B27P	54569	broad.mit.edu	37	4	69875669	69875669	+	IGR	SNP	C	C	A	rs539727317		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:69875669C>A								UGT2A3 (58160 upstream) : UGT2B7 (41524 downstream)																							CCTGTACAGCCGAGTATTGAG	0.383																																						uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(940-942)CGA>CTA		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							177.0	136.0	149.0					4																	69875669		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69875669C>A																													4.37:g.69875669C>A						UGT2B10_uc011can.1_Missense_Mutation_p.R230L	p.R314L			P36537	UDB10_HUMAN			7	1077	-			351						Missense_Mutation	SNP		37	c.941G>T																																																																																				0	0.383									7	75	1	0	5.18e-06	9.5e-06	7	75				
UGT2B11	10720	broad.mit.edu	37	4	70079865	70079865	+	Silent	SNP	G	G	T	rs148942208	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:70079865G>T	ENST00000446444.1	-	1	584	c.576C>A	c.(574-576)tcC>tcA	p.S192S	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	192					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGGTATGTAGGAAGGAGGGA	0.393																																						uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(574-576)TCC>TCA		UDP glucuronosyltransferase 2 family,							77.0	75.0	75.0					4																	70079865		2203	4296	6499	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079865G>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.576C>A	4.37:g.70079865G>T						uc003hei.1_Intron	p.S192S	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	585	-			192					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.576C>A	CCDS3527.1																																																																																				0.393	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		15	65	1	0	0.00316338	0.0052723	15	65				
MUC7	4589	broad.mit.edu	37	4	71347573	71347573	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:71347573T>C	ENST00000304887.5	+	3	1302	c.1112T>C	c.(1111-1113)aTt>aCt	p.I371T	MUC7_ENST00000413702.1_Missense_Mutation_p.I371T|MUC7_ENST00000456088.1_Missense_Mutation_p.I371T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	371					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AACAGAATTATTGACGACATG	0.333																																						uc011cat.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1111-1113)ATT>ACT		mucin 7, secreted precursor							49.0	55.0	53.0					4																	71347573		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347573T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.1112T>C	4.37:g.71347573T>C	ENSP00000302021:p.Ile371Thr					MUC7_uc011cau.1_Missense_Mutation_p.I371T|MUC7_uc003hfj.2_Missense_Mutation_p.I371T|uc011cav.1_RNA	p.I371T	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1400	+			371					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.1112T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.599935	0.28534	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.54866	0.55;0.55;0.55	2.6	-5.21	0.02815	.	.	.	.	.	T	0.26340	0.0643	N	0.19112	0.55	0.09310	N	1	P	0.40834	0.73	B	0.35550	0.205	T	0.15578	-1.0432	8	.	.	.	.	4.5796	0.12252	0.0:0.2937:0.3087:0.3976	.	371	Q8TAX7	MUC7_HUMAN	T	371	ENSP00000407422:I371T;ENSP00000400585:I371T;ENSP00000302021:I371T	.	I	+	2	0	MUC7	71382162	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.374000	0.07484	-1.210000	0.02627	0.533000	0.62120	ATT		0.333	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		12	46	0	0	0	0	12	46				
AMTN	401138	broad.mit.edu	37	4	71396868	71396868	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:71396868G>T	ENST00000339336.4	+	8	600	c.470G>T	c.(469-471)gGa>gTa	p.G157V	AMTN_ENST00000504451.1_Missense_Mutation_p.G156V	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	157					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CCAGCAGGAGGAGCAGGTGTA	0.607																																						uc003hfk.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(469-471)GGA>GTA		amelotin precursor							55.0	52.0	53.0					4																	71396868		2203	4300	6503	SO:0001583	missense	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71396868G>T	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.470G>T	4.37:g.71396868G>T	ENSP00000341013:p.Gly157Val					AMTN_uc010ihy.1_Missense_Mutation_p.G156V	p.G157V	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		8	559	+			157					Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	c.470G>T	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	G	8.541	0.873286	0.17322	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.40756	1.02;1.02	5.88	4.7	0.59300	.	0.341170	0.25666	N	0.029102	T	0.23054	0.0557	N	0.08118	0	0.38748	D	0.954049	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.06734	-1.0810	10	0.62326	D	0.03	-0.847	8.7071	0.34360	0.9143:0.0:0.0857:0.0	.	156;157	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	V	157;156	ENSP00000341013:G157V;ENSP00000422452:G156V	ENSP00000341013:G157V	G	+	2	0	AMTN	71431457	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	2.932000	0.48940	1.065000	0.40693	-0.350000	0.07774	GGA		0.607	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		11	32	1	0	4.69e-08	8.99e-08	11	32				
NPFFR2	10886	broad.mit.edu	37	4	72897759	72897759	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:72897759C>G	ENST00000308744.6	+	1	239	c.141C>G	c.(139-141)agC>agG	p.S47R	NPFFR2_ENST00000344413.5_Missense_Mutation_p.S47R	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	47					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGAGCGGAAGCCTGGAGTGGA	0.662																																						uc003hgg.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(139-141)AGC>AGG		neuropeptide FF receptor 2 isoform 1							25.0	30.0	28.0					4																	72897759		2202	4299	6501	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897759C>G	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.141C>G	4.37:g.72897759C>G	ENSP00000307822:p.Ser47Arg					NPFFR2_uc010iig.1_5'UTR	p.S47R	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		1	239	+			47			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.141C>G	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	C	8.785	0.929114	0.18131	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.75154	-0.91	1.04	1.04	0.20106	.	.	.	.	.	T	0.50650	0.1628	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.01281	0.0	T	0.42275	-0.9461	9	0.49607	T	0.09	.	5.5732	0.17208	0.0:1.0:0.0:0.0	.	47	Q9Y5X5	NPFF2_HUMAN	R	47	ENSP00000307822:S47R	ENSP00000307822:S47R	S	+	3	2	NPFFR2	73116623	0.011000	0.17503	0.002000	0.10522	0.006000	0.05464	0.145000	0.16157	0.896000	0.36366	0.478000	0.44815	AGC		0.662	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		7	36	0	0	0	0	7	36				
ANKRD17	26057	broad.mit.edu	37	4	74043106	74043106	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:74043106C>T	ENST00000358602.4	-	2	654	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E180K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E67K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	180					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTGCAGCTTCTAGTAAAGCT	0.398																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(538-540)GAA>AAA		ankyrin repeat domain protein 17 isoform a							100.0	95.0	96.0					4																	74043106		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74043106C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.538G>A	4.37:g.74043106C>T	ENSP00000351416:p.Glu180Lys					ANKRD17_uc003hgo.2_Missense_Mutation_p.E67K|ANKRD17_uc003hgq.2_Missense_Mutation_p.E180K|ANKRD17_uc003hgr.2_Missense_Mutation_p.E180K	p.E180K	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		2	655	-	Breast(15;0.000295)		180					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.538G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576302	0.86645	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.80824	-1.42;-1.42;-0.58	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000003	T	0.80592	0.4652	L	0.50333	1.59	0.44268	D	0.997128	B;B;B;B	0.32071	0.04;0.355;0.067;0.242	B;B;B;B	0.40009	0.06;0.316;0.059;0.118	T	0.75795	-0.3192	10	0.20519	T	0.43	.	19.1512	0.93488	0.0:1.0:0.0:0.0	.	180;180;180;67	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	180;180;180;67;180	ENSP00000351416:E180K;ENSP00000332265:E180K;ENSP00000427151:E67K	ENSP00000332265:E180K	E	-	1	0	ANKRD17	74261970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.513000	0.84729	0.591000	0.81541	GAA		0.398	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		7	73	0	0	0	0	7	73				
CXCL13	10563	broad.mit.edu	37	4	78528901	78528901	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:78528901C>A	ENST00000286758.4	+	3	187	c.109C>A	c.(109-111)Caa>Aaa	p.Q37K		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	37					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						TAGATGTGTCCAAGAGAGCTC	0.388																																						uc003hkr.2		NA																	0					0						c.(109-111)CAA>AAA		chemokine (C-X-C motif) ligand 13 (B-cell							168.0	154.0	159.0					4																	78528901		2203	4300	6503	SO:0001583	missense	10563				activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	g.chr4:78528901C>A	AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"""Endogenous ligands"""	10639	protein-coding gene	gene with protein product	"""B-cell chemoattractant"""	605149	"""small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"""	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.109C>A	4.37:g.78528901C>A	ENSP00000286758:p.Gln37Lys						p.Q37K	NM_006419	NP_006410	O43927	CXL13_HUMAN			3	187	+			37						Missense_Mutation	SNP	ENST00000286758.4	37	c.109C>A	CCDS3582.1	.	.	.	.	.	.	.	.	.	.	C	0.881	-0.728804	0.03135	.	.	ENSG00000156234	ENST00000286758	T	0.04049	3.72	4.97	-3.18	0.05186	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.203660	0.05892	N	0.628489	T	0.03305	0.0096	N	0.26042	0.785	0.09310	N	1	B	0.25850	0.136	B	0.26094	0.066	T	0.45381	-0.9265	10	0.02654	T	1	0.6429	9.41	0.38485	0.5832:0.1869:0.23:0.0	.	37	O43927	CXL13_HUMAN	K	37	ENSP00000286758:Q37K	ENSP00000286758:Q37K	Q	+	1	0	CXCL13	78747925	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.036000	0.00635	-0.448000	0.07128	0.650000	0.86243	CAA		0.388	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1			17	70	1	0	1.02e-10	2.04e-10	17	70				
FRAS1	80144	broad.mit.edu	37	4	79455626	79455626	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:79455626A>T	ENST00000264895.6	+	71	11389	c.10949A>T	c.(10948-10950)cAg>cTg	p.Q3650L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3646					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTGCATTCCAGCAGACCAAC	0.443																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(10948-10950)CAG>CTG		Fraser syndrome 1							185.0	168.0	173.0					4																	79455626		1941	4128	6069	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79455626A>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10949A>T	4.37:g.79455626A>T	ENSP00000264895:p.Gln3650Leu						p.Q3650L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			71	11389	+			3645			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10949A>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115676	0.77323	.	.	ENSG00000138759	ENST00000264895	T	0.63417	-0.04	5.34	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	M	0.83384	2.64	0.80722	D	1	P	0.46020	0.871	B	0.40534	0.332	T	0.68845	-0.5301	10	0.87932	D	0	.	10.9132	0.47120	0.9261:0.0:0.0739:0.0	.	3650	E9PHH6	.	L	3650	ENSP00000264895:Q3650L	ENSP00000264895:Q3650L	Q	+	2	0	FRAS1	79674650	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.154000	0.94694	0.872000	0.35775	0.402000	0.26972	CAG		0.443	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				32	142	0	0	0	0	32	142				
WDFY3	23001	broad.mit.edu	37	4	85781681	85781681	+	Missense_Mutation	SNP	C	C	G	rs138518540		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:85781681C>G	ENST00000295888.4	-	4	471	c.64G>C	c.(64-66)Gcc>Ccc	p.A22P	WDFY3_ENST00000322366.6_Missense_Mutation_p.A22P	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	22					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCCTAAGGCGTTGTCTTGT	0.542																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(64-66)GCC>CCC		WD repeat and FYVE domain containing 3 isoform							129.0	117.0	121.0					4																	85781681		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85781681C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.64G>C	4.37:g.85781681C>G	ENSP00000295888:p.Ala22Pro					WDFY3_uc003hpf.2_Missense_Mutation_p.A22P	p.A22P	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	4	472	-		Hepatocellular(203;0.114)	22					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.64G>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908599	0.92107	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000509172	T;T	0.65916	-0.18;-0.18	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.67725	0.953;0.9	T	0.70472	-0.4862	10	0.39692	T	0.17	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	22;22	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	P	22	ENSP00000318466:A22P;ENSP00000295888:A22P	ENSP00000295888:A22P	A	-	1	0	WDFY3	86000705	1.000000	0.71417	0.607000	0.28956	0.339000	0.28857	7.591000	0.82666	2.691000	0.91804	0.655000	0.94253	GCC		0.542	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		12	55	0	0	0	0	12	55				
MMRN1	22915	broad.mit.edu	37	4	90857200	90857200	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:90857200T>G	ENST00000394980.1	+	7	2688	c.2369T>G	c.(2368-2370)gTc>gGc	p.V790G	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532G|MMRN1_ENST00000264790.2_Missense_Mutation_p.V790G			Q13201	MMRN1_HUMAN	multimerin 1	790					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGACTTTGGTCAATGACAAT	0.378																																						uc003hst.2		NA																	0				ovary(4)	4						c.(2368-2370)GTC>GGC		multimerin 1							56.0	55.0	55.0					4																	90857200		2203	4298	6501	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857200T>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2369T>G	4.37:g.90857200T>G	ENSP00000378431:p.Val790Gly					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.V532G	p.V790G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2440	+		Hepatocellular(203;0.114)	790					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2369T>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	6.813	0.519128	0.13005	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.70986	-0.22;-0.22;-0.53	4.97	2.51	0.30379	.	1.462680	0.04052	N	0.304977	T	0.67571	0.2907	L	0.50333	1.59	0.41401	D	0.987674	B	0.24092	0.097	B	0.20577	0.03	T	0.51116	-0.8746	10	0.56958	D	0.05	.	9.5522	0.39317	0.0:0.1463:0.0:0.8537	.	790	Q13201	MMRN1_HUMAN	G	790;790;532	ENSP00000378431:V790G;ENSP00000264790:V790G;ENSP00000426461:V532G	ENSP00000264790:V790G	V	+	2	0	MMRN1	91076223	0.491000	0.26019	0.766000	0.31476	0.192000	0.23643	2.667000	0.46808	0.439000	0.26476	-0.256000	0.11100	GTC		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		7	58	0	0	0	0	7	58				
ATOH1	474	broad.mit.edu	37	4	94750474	94750474	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:94750474G>C	ENST00000306011.3	+	1	433	c.397G>C	c.(397-399)Ggc>Cgc	p.G133R		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	133					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAAGCTGAAAGGCGGGGTGGT	0.672																																						uc003hta.1		NA																	0					0						c.(397-399)GGC>CGC		atonal homolog 1							30.0	41.0	37.0					4																	94750474		2203	4300	6503	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750474G>C	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.397G>C	4.37:g.94750474G>C	ENSP00000302216:p.Gly133Arg						p.G133R	NM_005172	NP_005163	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	397	+		Hepatocellular(203;0.114)	133					Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.397G>C	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867599	0.72065	.	.	ENSG00000172238	ENST00000306011	D	0.98296	-4.85	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.97632	0.9224	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97385	0.9985	10	0.40728	T	0.16	-17.3537	14.335	0.66584	0.0:0.0:1.0:0.0	.	133	Q92858	ATOH1_HUMAN	R	133	ENSP00000302216:G133R	ENSP00000302216:G133R	G	+	1	0	ATOH1	94969497	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.499000	0.81566	2.229000	0.72834	0.543000	0.68304	GGC		0.672	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		3	44	0	0	0	0	3	44				
HPGDS	27306	broad.mit.edu	37	4	95223375	95223375	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:95223375C>T	ENST00000295256.5	-	5	447	c.357G>A	c.(355-357)ctG>ctA	p.L119L	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	119	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TATACGTGAGCAGCTCATTGA	0.378																																					Colon(86;1802 1843 17863 46794)	uc003hte.1		NA																	0				ovary(1)	1						c.(355-357)CTG>CTA		prostaglandin D2 synthase, hematopoietic	Glutathione(DB00143)						135.0	136.0	136.0					4																	95223375		2203	4300	6503	SO:0001819	synonymous_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95223375C>T	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.357G>A	4.37:g.95223375C>T							p.L119L	NM_014485	NP_055300	O60760	HPGDS_HUMAN			5	448	-			119			GST C-terminal.		Q6FHT9	Silent	SNP	ENST00000295256.5	37	c.357G>A	CCDS3640.1																																																																																				0.378	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		45	163	0	0	0	0	45	163				
UNC5C	8633	broad.mit.edu	37	4	96256640	96256640	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:96256640G>T	ENST00000453304.1	-	2	615	c.267C>A	c.(265-267)acC>acA	p.T89T	UNC5C_ENST00000504962.1_Silent_p.T89T|UNC5C_ENST00000506749.1_Silent_p.T89T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	89	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AATAGATCTGGGTGGCAGGGC	0.428																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(265-267)ACC>ACA		unc5C precursor							129.0	121.0	124.0					4																	96256640		2203	4299	6502	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96256640G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.267C>A	4.37:g.96256640G>T						UNC5C_uc010ilc.1_Silent_p.T89T|UNC5C_uc003htq.2_Silent_p.T89T	p.T89T	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	2	421	-		Hepatocellular(203;0.114)	89			Extracellular (Potential).|Ig-like.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.267C>A	CCDS3643.1																																																																																				0.428	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		20	46	1	0	1.5e-11	3.03e-11	20	46				
TET2	54790	broad.mit.edu	37	4	106156786	106156786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:106156786G>T	ENST00000540549.1	+	3	2547	c.1687G>T	c.(1687-1689)Gga>Tga	p.G563*	TET2_ENST00000545826.1_Nonsense_Mutation_p.G563*|TET2_ENST00000394764.1_Nonsense_Mutation_p.G563*|TET2_ENST00000305737.2_Nonsense_Mutation_p.G563*|TET2_ENST00000413648.2_Nonsense_Mutation_p.G563*|TET2_ENST00000380013.4_Nonsense_Mutation_p.G563*|TET2_ENST00000513237.1_Nonsense_Mutation_p.G584*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	563					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCTGAAACCAGGATGGATTGA	0.463			"""Mis N, F"""		MDS																																	uc003hxk.2		NA		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(1687-1689)GGA>TGA		tet oncogene family member 2 isoform a							85.0	90.0	89.0					4																	106156786		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156786G>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1687G>T	4.37:g.106156786G>T	ENSP00000442788:p.Gly563*					TET2_uc011cez.1_Nonsense_Mutation_p.G584*|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Nonsense_Mutation_p.G563*|TET2_uc003hxi.1_Nonsense_Mutation_p.G563*	p.G563*	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2073	+		Myeloproliferative disorder(5;0.0393)	563					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.1687G>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	38	7.103068	0.98066	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.59	5.59	0.84812	.	0.853756	0.09775	N	0.757429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.6063	0.62050	0.0:0.0:0.8454:0.1546	.	.	.	.	X	563;563;563;584;563;563;563;563	.	ENSP00000265149:G563X	G	+	1	0	TET2	106376235	0.975000	0.34042	0.983000	0.44433	0.441000	0.31987	2.865000	0.48412	2.631000	0.89168	0.650000	0.86243	GGA		0.463	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		21	73	1	0	9.96e-16	2.1e-15	21	73				
FABP2	2169	broad.mit.edu	37	4	120240198	120240198	+	Nonstop_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:120240198A>T	ENST00000274024.3	-	4	684	c.397T>A	c.(397-399)Tga>Aga	p.*133R		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	0					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	AATAATGCTCAATCCTTTTTA	0.328																																						uc003icw.2		NA																	0				ovary(1)	1						c.(397-399)TGA>AGA		intestinal fatty acid binding protein 2							125.0	125.0	125.0					4																	120240198		2202	4295	6497	SO:0001578	stop_lost	2169						fatty acid binding	g.chr4:120240198A>T	J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"""Fatty acid binding protein family"""	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.397T>A	4.37:g.120240198A>T							p.*133R	NM_000134	NP_000125	P12104	FABPI_HUMAN			4	456	-			133					Q2NKJ1	Nonstop_Mutation	SNP	ENST00000274024.3	37	c.397T>A	CCDS3712.1	.	.	.	.	.	.	.	.	.	.	A	6.804	0.517386	0.13005	.	.	ENSG00000145384	ENST00000274024	.	.	.	5.05	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9081	0.52723	0.8538:0.1462:0.0:0.0	.	.	.	.	R	133	.	.	X	-	1	0	FABP2	120459646	0.505000	0.26131	0.001000	0.08648	0.001000	0.01503	5.436000	0.66538	0.850000	0.35239	-0.472000	0.04984	TGA		0.328	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134		14	74	0	0	0	0	14	74				
EXOSC9	5393	broad.mit.edu	37	4	122734498	122734498	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:122734498G>A	ENST00000243498.5	+	9	1045	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	EXOSC9_ENST00000512454.1_Missense_Mutation_p.E297K|EXOSC9_ENST00000379663.3_Missense_Mutation_p.E313K|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	313					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AGAAAAAGCAGAAGAAATCAT	0.363																																						uc003iea.2		NA																	0					0						c.(937-939)GAA>AAA		exosome component 9 isoform 2							109.0	117.0	114.0					4																	122734498		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122734498G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.937G>A	4.37:g.122734498G>A	ENSP00000243498:p.Glu313Lys					EXOSC9_uc003idz.2_Missense_Mutation_p.E313K|EXOSC9_uc003ieb.2_Missense_Mutation_p.E297K|EXOSC9_uc010inp.1_Intron	p.E313K	NM_005033	NP_005024	Q06265	EXOS9_HUMAN			9	1045	+			313					Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.937G>A	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298973	0.60195	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000512454	T;T;T	0.23950	1.89;1.88;1.89	6.0	5.16	0.70880	.	0.369082	0.34777	N	0.003694	T	0.24851	0.0603	L	0.44542	1.39	0.54753	D	0.999983	B;B;B	0.14805	0.011;0.011;0.004	B;B;B	0.11329	0.005;0.005;0.006	T	0.02126	-1.1209	10	0.40728	T	0.16	-17.6575	14.9985	0.71451	0.068:0.0:0.932:0.0	.	297;313;313	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	K	313;313;297	ENSP00000243498:E313K;ENSP00000368984:E313K;ENSP00000425782:E297K	ENSP00000243498:E313K	E	+	1	0	EXOSC9	122953948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.858000	0.75461	1.545000	0.49373	0.650000	0.86243	GAA		0.363	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		10	111	0	0	0	0	10	111				
ANKRD50	57182	broad.mit.edu	37	4	125593540	125593540	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:125593540T>C	ENST00000504087.1	-	4	1929	c.892A>G	c.(892-894)Aaa>Gaa	p.K298E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K119E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	298										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CCACTGCTTTTAATGTGCAGT	0.363																																						uc003ifg.3		NA																	0				central_nervous_system(1)	1						c.(892-894)AAA>GAA		ankyrin repeat domain 50							69.0	66.0	67.0					4																	125593540		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125593540T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.892A>G	4.37:g.125593540T>C	ENSP00000425658:p.Lys298Glu					ANKRD50_uc011cgo.1_Missense_Mutation_p.K119E|ANKRD50_uc010inw.2_Missense_Mutation_p.K298E	p.K298E	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	1158	-			298					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.892A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246304	0.80024	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.70869	-0.49;-0.52	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82981	0.5155	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.84614	0.0680	10	0.62326	D	0.03	.	15.6396	0.76984	0.0:0.0:0.0:1.0	.	298	Q9ULJ7	ANR50_HUMAN	E	298;119	ENSP00000425658:K298E;ENSP00000425355:K119E	ENSP00000425658:K298E	K	-	1	0	ANKRD50	125812990	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.365000	0.79537	2.277000	0.76020	0.528000	0.53228	AAA		0.363	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		8	28	0	0	0	0	8	28				
FAT4	79633	broad.mit.edu	37	4	126242430	126242430	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:126242430C>G	ENST00000394329.3	+	1	4877	c.4864C>G	c.(4864-4866)Cag>Gag	p.Q1622E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1622	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCATTCTTCAGGGCCTTGA	0.428																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4864-4866)CAG>GAG		FAT tumor suppressor homolog 4 precursor							104.0	106.0	105.0					4																	126242430		1920	4122	6042	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242430C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4864C>G	4.37:g.126242430C>G	ENSP00000377862:p.Gln1622Glu						p.Q1622E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4864	+			1622			Cadherin 15.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4864C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	5.392	0.257473	0.10239	.	.	ENSG00000196159	ENST00000394329	T	0.60040	0.22	4.64	4.64	0.57946	Cadherin (2);Cadherin-like (1);	0.000000	0.32819	U	0.005604	T	0.48429	0.1499	L	0.34521	1.04	0.80722	D	1	P	0.44090	0.826	P	0.47673	0.554	T	0.44877	-0.9299	10	0.02654	T	1	.	13.465	0.61249	0.0:0.8432:0.1568:0.0	.	1622	Q6V0I7	FAT4_HUMAN	E	1622	ENSP00000377862:Q1622E	ENSP00000377862:Q1622E	Q	+	1	0	FAT4	126461880	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.604000	0.54081	2.415000	0.81967	0.650000	0.86243	CAG		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		16	106	0	0	0	0	16	106				
SLC25A31	83447	broad.mit.edu	37	4	128685492	128685492	+	Missense_Mutation	SNP	G	G	A	rs267600020		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:128685492G>A	ENST00000281154.4	+	3	623	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	152					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GCCCGAACCCGATTAGGTGTC	0.398																																						uc003ifl.2		NA																	0					0						c.(454-456)CGA>CAA		solute carrier family 25 (mitochondrial carrier;							100.0	96.0	97.0					4																	128685492		2203	4300	6503	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128685492G>A	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.455G>A	4.37:g.128685492G>A	ENSP00000281154:p.Arg152Gln						p.R152Q	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			3	601	+			152			Solcar 2.			Missense_Mutation	SNP	ENST00000281154.4	37	c.455G>A	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996711	0.93167	.	.	ENSG00000151475	ENST00000281154	D	0.84146	-1.81	5.0	4.16	0.48862	Mitochondrial carrier domain (2);	0.000000	0.42420	D	0.000715	D	0.93446	0.7909	M	0.92604	3.325	0.40992	D	0.984869	D	0.89917	1.0	D	0.97110	1.0	D	0.94689	0.7872	10	0.87932	D	0	-13.4645	12.2691	0.54695	0.0831:0.0:0.9169:0.0	.	152	Q9H0C2	ADT4_HUMAN	Q	152	ENSP00000281154:R152Q	ENSP00000281154:R152Q	R	+	2	0	SLC25A31	128904942	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	6.756000	0.74919	1.342000	0.45619	0.655000	0.94253	CGA		0.398	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		7	40	0	0	0	0	7	40				
ZNF827	152485	broad.mit.edu	37	4	146806946	146806946	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:146806946G>A	ENST00000508784.1	-	4	1858	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	ZNF827_ENST00000379448.4_Missense_Mutation_p.P544L|ZNF827_ENST00000513320.1_Missense_Mutation_p.P194L			Q17R98	ZN827_HUMAN	zinc finger protein 827	544					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)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTGGTTGGCGGGCCTGTCGGC	0.557																																						uc003ikn.2		NA																	0					0						c.(1630-1632)CCC>CTC		zinc finger protein 827							79.0	78.0	78.0					4																	146806946		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146806946G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1631C>T	4.37:g.146806946G>A	ENSP00000421863:p.Pro544Leu					ZNF827_uc003ikm.2_Missense_Mutation_p.P544L|ZNF827_uc010iox.2_Missense_Mutation_p.P194L	p.P544L	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			4	1679	-	all_hematologic(180;0.151)		544					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1631C>T		.	.	.	.	.	.	.	.	.	.	G	18.95	3.732621	0.69189	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.09445	3.05;2.98;3.09	5.62	5.62	0.85841	.	0.308940	0.36338	N	0.002658	T	0.10766	0.0263	N	0.19112	0.55	0.80722	D	1	B;B;B	0.22414	0.069;0.041;0.069	B;B;B	0.27715	0.05;0.037;0.082	T	0.19614	-1.0300	10	0.41790	T	0.15	-11.4261	19.6523	0.95822	0.0:0.0:1.0:0.0	.	194;544;544	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	L	544;194;544;543;194	ENSP00000421863:P544L;ENSP00000423130:P194L;ENSP00000368761:P544L	ENSP00000281318:P543L	P	-	2	0	ZNF827	147026396	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.104000	0.77024	2.650000	0.89964	0.561000	0.74099	CCC		0.557	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		8	56	0	0	0	0	8	56				
NR3C2	4306	broad.mit.edu	37	4	149357050	149357050	+	Silent	SNP	C	C	A	rs529946671		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:149357050C>A	ENST00000358102.3	-	2	1325	c.963G>T	c.(961-963)acG>acT	p.T321T	NR3C2_ENST00000512865.1_Silent_p.T321T|NR3C2_ENST00000511528.1_Silent_p.T321T|NR3C2_ENST00000344721.4_Silent_p.T321T|NR3C2_ENST00000355292.3_Silent_p.T321T	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	321	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GACTGGAAAGCGTGGATCTGT	0.483																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NA																	0				large_intestine(1)	1						c.(961-963)ACG>ACT		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						90.0	92.0	91.0					4																	149357050		2203	4300	6503	SO:0001819	synonymous_variant	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357050C>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.963G>T	4.37:g.149357050C>A						NR3C2_uc003ilk.3_Silent_p.T321T|NR3C2_uc010iph.2_RNA	p.T321T	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1297	-	all_hematologic(180;0.151)		321			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.963G>T	CCDS3772.1																																																																																				0.483	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			16	75	1	0	0.000422831	0.000728704	16	75				
DCLK2	166614	broad.mit.edu	37	4	151000270	151000270	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:151000270T>C	ENST00000296550.7	+	1	845	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	DCLK2_ENST00000302176.8_Missense_Mutation_p.S31P|DCLK2_ENST00000506325.1_Missense_Mutation_p.S31P	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	31					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCCCAGCTCCTCCGGGGGCAG	0.706																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3		NA																	0				ovary(3)	3						c.(91-93)TCC>CCC		doublecortin-like kinase 2 isoform a							10.0	15.0	14.0					4																	151000270		2182	4280	6462	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151000270T>C	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.91T>C	4.37:g.151000270T>C	ENSP00000296550:p.Ser31Pro					DCLK2_uc003iln.3_Missense_Mutation_p.S31P|DCLK2_uc003ilo.3_Missense_Mutation_p.S31P|DCLK2_uc003ilp.3_RNA	p.S31P	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			1	191	+	all_hematologic(180;0.151)		31					C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.91T>C	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671617	0.88348	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.68479	-0.31;-0.33;-0.31	4.64	4.64	0.57946	.	0.549920	0.19401	N	0.115162	T	0.64746	0.2626	N	0.08118	0	0.41782	D	0.989825	D;D;D	0.57899	0.981;0.981;0.967	D;D;D	0.68621	0.959;0.959;0.91	T	0.71381	-0.4610	10	0.66056	D	0.02	.	12.7311	0.57199	0.0:0.0:0.0:1.0	.	31;31;31	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	P	31	ENSP00000296550:S31P;ENSP00000427235:S31P;ENSP00000303887:S31P	ENSP00000296550:S31P	S	+	1	0	DCLK2	151219720	0.940000	0.31905	0.996000	0.52242	0.991000	0.79684	1.898000	0.39809	2.064000	0.61679	0.528000	0.53228	TCC		0.706	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		9	13	0	0	0	0	9	13				
DCHS2	54798	broad.mit.edu	37	4	155236942	155236942	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:155236942C>A	ENST00000357232.4	-	15	3852	c.3853G>T	c.(3853-3855)Ggg>Tgg	p.G1285W		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1285	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAAACTCCCCTGGATTTTGG	0.368																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(3853-3855)GGG>TGG		dachsous 2 isoform 1							70.0	72.0	72.0					4																	155236942		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155236942C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3853G>T	4.37:g.155236942C>A	ENSP00000349768:p.Gly1285Trp						p.G1285W	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3853	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1285			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3853G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771318	0.49680	.	.	ENSG00000197410	ENST00000357232	T	0.70399	-0.48	5.53	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.88507	0.6455	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91945	0.5566	10	0.87932	D	0	.	14.8786	0.70513	0.0:0.9307:0.0:0.0693	.	1285	Q6V1P9	PCD23_HUMAN	W	1285	ENSP00000349768:G1285W	ENSP00000349768:G1285W	G	-	1	0	DCHS2	155456392	0.999000	0.42202	0.710000	0.30468	0.154000	0.21943	4.484000	0.60271	1.484000	0.48361	0.585000	0.79938	GGG		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	75	1	0	1.07e-07	2.04e-07	7	75				
MAP9	79884	broad.mit.edu	37	4	156289867	156289867	+	Silent	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:156289867T>A	ENST00000311277.4	-	5	842	c.579A>T	c.(577-579)ggA>ggT	p.G193G	AC097467.2_ENST00000598890.1_RNA|MAP9_ENST00000515654.1_Silent_p.G193G|AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000379248.2_Silent_p.G120G|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	193					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TATCTTCTAGTCCATCCTTCT	0.428																																						uc003ios.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(577-579)GGA>GGT		aster-associated protein							199.0	184.0	189.0					4																	156289867		2203	4300	6503	SO:0001819	synonymous_variant	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156289867T>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.579A>T	4.37:g.156289867T>A						MAP9_uc011cin.1_Silent_p.G192G|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Silent_p.G192G|MAP9_uc010iqb.1_Silent_p.G120G	p.G193G	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	5	843	-	all_hematologic(180;0.24)	Renal(120;0.0458)	193			Potential.		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	ENST00000311277.4	37	c.579A>T	CCDS35493.1																																																																																				0.428	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		15	78	0	0	0	0	15	78				
ZFP42	132625	broad.mit.edu	37	4	188924519	188924519	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:188924519C>A	ENST00000326866.4	+	4	966	c.558C>A	c.(556-558)agC>agA	p.S186R	ZFP42_ENST00000509524.1_Missense_Mutation_p.S186R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	186					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACAGTCTGAGCGCAATCGCTT	0.493																																						uc003izg.1		NA																	0				ovary(1)|skin(1)	2						c.(556-558)AGC>AGA		zinc finger protein 42							101.0	109.0	107.0					4																	188924519		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924519C>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.558C>A	4.37:g.188924519C>A	ENSP00000317686:p.Ser186Arg					ZFP42_uc003izh.1_Missense_Mutation_p.S186R|ZFP42_uc003izi.1_Missense_Mutation_p.S186R	p.S186R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	803	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	186					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.558C>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	0.250	-1.007270	0.02112	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.64618	-0.11;-0.11	4.29	-3.4	0.04853	.	1.197160	0.06300	N	0.700790	T	0.29158	0.0725	N	0.04148	-0.265	0.09310	N	1	P	0.35033	0.481	B	0.29524	0.103	T	0.08249	-1.0731	10	0.25106	T	0.35	.	2.0763	0.03625	0.2431:0.3781:0.2534:0.1253	.	186	Q96MM3	ZFP42_HUMAN	R	186	ENSP00000317686:S186R;ENSP00000424662:S186R	ENSP00000317686:S186R	S	+	3	2	ZFP42	189161513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.027000	0.13621	-0.996000	0.03455	-1.899000	0.00529	AGC		0.493	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		31	98	1	0	2.1e-21	4.48e-21	31	98				
TRIML2	205860	broad.mit.edu	37	4	189018247	189018247	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr4:189018247C>G	ENST00000512729.1	-	6	937	c.563G>C	c.(562-564)aGa>aCa	p.R188T	TRIML2_ENST00000326754.3_Missense_Mutation_p.R213T	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	188	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)		GCTGAGTCCTCTTATGTGGCA	0.493																																						uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(562-564)AGA>ACA		tripartite motif family-like 2							145.0	135.0	138.0					4																	189018247		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189018247C>G	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.563G>C	4.37:g.189018247C>G	ENSP00000422581:p.Arg188Thr					TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.R263T	p.R188T	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)	6	599	-		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)	188			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.563G>C	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	4.726	0.135003	0.09032	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.57752	4.18;0.38	4.51	-2.74	0.05932	B30.2/SPRY domain (1);	2.102030	0.02146	N	0.057585	T	0.17023	0.0409	N	0.00602	-1.34	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.07121	-1.0789	10	0.16420	T	0.52	.	0.8586	0.01188	0.1962:0.1914:0.3429:0.2696	.	213;188	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	T	188;213	ENSP00000422581:R188T;ENSP00000317498:R213T	ENSP00000317498:R213T	R	-	2	0	TRIML2	189255241	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.114000	0.15520	-0.610000	0.05716	-0.923000	0.02734	AGA		0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		12	112	0	0	0	0	12	112				
ADAMTS16	170690	broad.mit.edu	37	5	5237159	5237159	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:5237159G>T	ENST00000274181.7	+	14	2239	c.2101G>T	c.(2101-2103)Ggg>Tgg	p.G701W	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	701	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G701W(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGTCAAAGATGGGACTCCATG	0.373																																						uc003jdl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2101-2103)GGG>TGG		ADAM metallopeptidase with thrombospondin type 1							160.0	149.0	152.0					5																	5237159		1891	4107	5998	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237159G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2101G>T	5.37:g.5237159G>T	ENSP00000274181:p.Gly701Trp					ADAMTS16_uc003jdk.1_Missense_Mutation_p.G701W|ADAMTS16_uc010itk.1_Intron	p.G701W	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2239	+			701			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2101G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748994	0.89753	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	D	0.90324	-2.65	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98942	1.0791	10	0.87932	D	0	.	18.6706	0.91510	0.0:0.0:1.0:0.0	.	701;701	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	W	701	ENSP00000274181:G701W	ENSP00000274181:G701W	G	+	1	0	ADAMTS16	5290159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.985000	0.93487	2.708000	0.92522	0.655000	0.94253	GGG		0.373	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		16	55	1	0	4.15e-12	8.45e-12	16	55				
ICE1	23379	broad.mit.edu	37	5	5462953	5462953	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:5462953G>A	ENST00000296564.7	+	13	3728	c.3506G>A	c.(3505-3507)aGa>aAa	p.R1169K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1169					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGCTGGATAGACTTTCCACA	0.428																																						uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3505-3507)AGA>AAA		hypothetical protein LOC23379							85.0	77.0	79.0					5																	5462953		1852	4109	5961	SO:0001583	missense	23379							g.chr5:5462953G>A																												ENST00000296564.7:c.3506G>A	5.37:g.5462953G>A	ENSP00000296564:p.Arg1169Lys						p.R1169K	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	3728	+			1169					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3506G>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	g	9.325	1.059043	0.19987	.	.	ENSG00000164151	ENST00000296564	T	0.09163	3.01	5.12	3.31	0.37934	.	.	.	.	.	T	0.03915	0.0110	N	0.04508	-0.205	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.43909	-0.9362	9	0.02654	T	1	-4.089	7.0811	0.25231	0.2123:0.0:0.7877:0.0	.	1169	Q9Y2F5	K0947_HUMAN	K	1169	ENSP00000296564:R1169K	ENSP00000296564:R1169K	R	+	2	0	KIAA0947	5515953	0.000000	0.05858	0.029000	0.17559	0.945000	0.59286	-0.159000	0.10056	0.539000	0.28788	0.298000	0.19748	AGA		0.428	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			6	14	0	0	0	0	6	14				
NSUN2	54888	broad.mit.edu	37	5	6611186	6611186	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:6611186C>T	ENST00000264670.6	-	11	1419	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	NSUN2_ENST00000506139.1_Missense_Mutation_p.D335N|NSUN2_ENST00000539938.1_Missense_Mutation_p.D134N	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	370					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTGCCCATCTTTCGTCATT	0.502																																						uc003jdu.2		NA																	0				ovary(1)	1						c.(1108-1110)GAT>AAT		NOL1/NOP2/Sun domain family, member 2							183.0	146.0	158.0					5																	6611186		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6611186C>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1108G>A	5.37:g.6611186C>T	ENSP00000264670:p.Asp370Asn					NSUN2_uc003jdt.2_Missense_Mutation_p.D134N|NSUN2_uc011cmk.1_Missense_Mutation_p.D335N|NSUN2_uc003jdv.2_Missense_Mutation_p.D134N	p.D370N	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			11	1173	-			370					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1108G>A	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938666	0.73557	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.56941	1.18;0.43;1.18	5.63	5.63	0.86233	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.194324	0.56097	D	0.000040	T	0.48786	0.1519	L	0.41492	1.28	0.58432	D	0.999999	B;B	0.14438	0.01;0.006	B;B	0.22880	0.014;0.042	T	0.33059	-0.9883	10	0.29301	T	0.29	-25.8286	19.7432	0.96238	0.0:1.0:0.0:0.0	.	335;370	B4DQW2;Q08J23	.;NSUN2_HUMAN	N	370;134;335	ENSP00000264670:D370N;ENSP00000444338:D134N;ENSP00000420957:D335N	ENSP00000264670:D370N	D	-	1	0	NSUN2	6664186	1.000000	0.71417	0.758000	0.31321	0.819000	0.46315	7.011000	0.76359	2.662000	0.90505	0.555000	0.69702	GAT		0.502	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		20	80	0	0	0	0	20	80				
CTNND2	1501	broad.mit.edu	37	5	11018126	11018126	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:11018126C>T	ENST00000304623.8	-	18	3233	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N	CTNND2_ENST00000458100.2_Missense_Mutation_p.S582N|CTNND2_ENST00000359640.2_Missense_Mutation_p.S957N|CTNND2_ENST00000511377.1_Missense_Mutation_p.S924N|CTNND2_ENST00000503622.1_Missense_Mutation_p.S678N|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1015					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						CTGCCACATGCTGTTGAGGAC	0.517																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(3043-3045)AGC>AAC		catenin (cadherin-associated protein), delta 2							146.0	129.0	135.0					5																	11018126		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.chr5:11018126C>T	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.3044G>A	5.37:g.11018126C>T	ENSP00000307134:p.Ser1015Asn					CTNND2_uc010itt.2_Missense_Mutation_p.S924N|CTNND2_uc011cmy.1_Missense_Mutation_p.S678N|CTNND2_uc011cmz.1_Missense_Mutation_p.S582N|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S607N	p.S1015N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			18	3189	-			1015			ARM 9.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3044G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502880	0.64298	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.039861	0.85682	D	0.000000	T	0.32496	0.0831	L	0.28344	0.845	0.58432	D	0.999997	B;B;B	0.32245	0.02;0.008;0.361	B;B;B	0.26770	0.016;0.016;0.073	T	0.13045	-1.0524	10	0.87932	D	0	-25.9099	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	678;607;1015	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	N	1015;957;924;110;582;678	ENSP00000307134:S1015N;ENSP00000352661:S957N;ENSP00000426510:S924N;ENSP00000391155:S582N;ENSP00000426887:S678N	ENSP00000307134:S1015N	S	-	2	0	CTNND2	11071126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	AGC		0.517	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	82	0	0	0	0	7	82				
CTNND2	1501	broad.mit.edu	37	5	11364946	11364946	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:11364946C>G	ENST00000304623.8	-	8	1423	c.1234G>C	c.(1234-1236)Gcc>Ccc	p.A412P	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A412P|CTNND2_ENST00000511377.1_Missense_Mutation_p.A321P|CTNND2_ENST00000503622.1_Missense_Mutation_p.A75P|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	412					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						GACTGCAGGGCCCGCAACTCT	0.582																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1234-1236)GCC>CCC		catenin (cadherin-associated protein), delta 2							51.0	56.0	54.0					5																	11364946		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.chr5:11364946C>G	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.1234G>C	5.37:g.11364946C>G	ENSP00000307134:p.Ala412Pro					CTNND2_uc010itt.2_Missense_Mutation_p.A321P|CTNND2_uc011cmy.1_Missense_Mutation_p.A75P|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR	p.A412P	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			8	1379	-			412			ARM 1.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1234G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981578	0.34942	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	T;T;T;T	0.76578	-0.89;-0.98;-0.88;-1.03	5.47	5.47	0.80525	.	0.087618	0.45361	D	0.000377	T	0.55353	0.1915	N	0.03608	-0.345	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.53648	-0.8409	10	0.21540	T	0.41	-17.8372	12.9275	0.58268	0.2837:0.7163:0.0:0.0	.	75;412	B4DRK2;Q9UQB3	.;CTND2_HUMAN	P	412;412;321;75;152	ENSP00000307134:A412P;ENSP00000352661:A412P;ENSP00000426510:A321P;ENSP00000426887:A75P	ENSP00000307134:A412P	A	-	1	0	CTNND2	11417946	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.817000	0.48034	2.581000	0.87130	0.655000	0.94253	GCC		0.582	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		16	86	0	0	0	0	16	86				
DNAH5	1767	broad.mit.edu	37	5	13870965	13870966	+	Missense_Mutation	DNP	CC	CC	AA	rs140471516	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:13870965_13870966CC>AA	ENST00000265104.4	-	24	3848_3849	c.3744_3745GG>TT	c.(3742-3747)aaGGac>aaTTac	p.1248_1249KD>NY	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1248	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATCTAGGTCCTTAATTGGAC	0.371									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3742-3747)AAGGAC>AATTAC		dynein, axonemal, heavy chain 5																																				SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13870965_13870966CC>AA	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3744_3745delinsAA	5.37:g.13870965_13870966delinsAA	ENSP00000265104:p.K1248_D1249delinsNY						p.1248_1249KD>NY	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			24	3786_3787	-	Lung NSC(4;0.00476)		1248_1249			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	DNP	ENST00000265104.4	37	c.3744_3745GG>TT	CCDS3882.1																																																																																				0.371	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	46	0	0	0	0	10	46				
NIPBL	25836	broad.mit.edu	37	5	36953855	36953855	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:36953855C>T	ENST00000282516.8	+	2	556	c.57C>T	c.(55-57)ctC>ctT	p.L19L	NIPBL_ENST00000448238.2_Silent_p.L19L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	19					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)			TTGCTAGTCTCACAGACCGTA	0.348																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(55-57)CTC>CTT		delangin isoform A							120.0	111.0	114.0					5																	36953855		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:36953855C>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.57C>T	5.37:g.36953855C>T						NIPBL_uc003jkk.3_Silent_p.L19L	p.L19L	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)		2	556	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		19					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.57C>T	CCDS3920.1																																																																																				0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		21	61	0	0	0	0	21	61				
NIPBL	25836	broad.mit.edu	37	5	37003451	37003451	+	Splice_Site	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:37003451T>C	ENST00000282516.8	+	16	4354		c.e16+2		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						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)			TTAAATCATGTAAGTTTAAGA	0.318																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.e16+2		delangin isoform A							81.0	92.0	89.0					5																	37003451		2201	4285	6486	SO:0001630	splice_region_variant	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.chr5:37003451T>C	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.3855+2T>C	5.37:g.37003451T>C						NIPBL_uc003jkk.3_Splice_Site_p.H1285_splice	p.H1285_splice	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)		16	4354	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37	c.3855_splice	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752533	0.89753	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37039208	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.333000	0.79214	2.289000	0.77006	0.482000	0.46254	.		0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	Intron	15	98	0	0	0	0	15	98				
C9	735	broad.mit.edu	37	5	39341354	39341354	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:39341354C>T	ENST00000263408.4	-	4	465	c.370G>A	c.(370-372)Gac>Aac	p.D124N	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	124	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTCCGCAGTCATTGTCACCA	0.463																																						uc003jlv.3		NA																	0					0						c.(370-372)GAC>AAC		complement component 9 precursor							126.0	121.0	123.0					5																	39341354		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341354C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.370G>A	5.37:g.39341354C>T	ENSP00000263408:p.Asp124Asn						p.D124N	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	459	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	124			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263408.4	37	c.370G>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.990097	0.93106	.	.	ENSG00000113600	ENST00000263408	D	0.99005	-5.32	5.32	5.32	0.75619	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99360	0.9775	M	0.87971	2.92	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.99056	1.0829	10	0.87932	D	0	-32.0117	17.7706	0.88491	0.0:1.0:0.0:0.0	.	124	P02748	CO9_HUMAN	N	124	ENSP00000263408:D124N	ENSP00000263408:D124N	D	-	1	0	C9	39377111	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.943000	0.56621	2.484000	0.83849	0.563000	0.77884	GAC		0.463	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			10	74	0	0	0	0	10	74				
C5orf51	285636	broad.mit.edu	37	5	41904501	41904501	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:41904501G>A	ENST00000381647.2	+	1	51	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	11										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGGTGAGACGAGTGGAAGAG	0.662																																						uc003jmo.2		NA																	0					0						c.(31-33)CGA>CAA		hypothetical protein LOC285636							35.0	35.0	35.0					5																	41904501		2203	4300	6503	SO:0001583	missense	285636							g.chr5:41904501G>A	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.32G>A	5.37:g.41904501G>A	ENSP00000371061:p.Arg11Gln						p.R11Q	NM_175921	NP_787117	A6NDU8	CE051_HUMAN			1	32	+			11					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.32G>A	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697637	0.68386	.	.	ENSG00000205765	ENST00000381647	T	0.38560	1.13	4.99	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	N	0.24115	0.695	0.37409	D	0.913176	D	0.63046	0.992	P	0.44623	0.455	T	0.07139	-1.0788	10	0.33940	T	0.23	-14.7544	10.131	0.42678	0.0:0.0:0.8008:0.1991	.	11	A6NDU8	CE051_HUMAN	Q	11	ENSP00000371061:R11Q	ENSP00000371061:R11Q	R	+	2	0	C5orf51	41940258	0.992000	0.36948	0.983000	0.44433	0.834000	0.47266	2.394000	0.44450	2.756000	0.94617	0.561000	0.74099	CGA		0.662	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		6	31	0	0	0	0	6	31				
HTR1A	3350	broad.mit.edu	37	5	63256751	63256751	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:63256751C>G	ENST00000323865.3	-	1	1029	c.796G>C	c.(796-798)Ggc>Cgc	p.G266R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	266					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTCTCCACGCCCAGCCTCCAG	0.672																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(796-798)GGC>CGC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						56.0	52.0	53.0					5																	63256751		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256751C>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.796G>C	5.37:g.63256751C>G	ENSP00000316244:p.Gly266Arg						p.G266R	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	796	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	266			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.796G>C	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	0.474	-0.883033	0.02530	.	.	ENSG00000178394	ENST00000323865	T	0.62639	0.01	5.17	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.578310	0.17978	N	0.155631	T	0.37892	0.1020	N	0.17723	0.515	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.15263	-1.0443	10	0.14252	T	0.57	.	3.349	0.07145	0.1745:0.4834:0.0:0.3421	.	266	P08908	5HT1A_HUMAN	R	266	ENSP00000316244:G266R	ENSP00000316244:G266R	G	-	1	0	HTR1A	63292507	0.199000	0.23386	0.007000	0.13788	0.445000	0.32107	0.767000	0.26575	0.339000	0.23719	-0.137000	0.14449	GGC		0.672	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		9	94	0	0	0	0	9	94				
MAP1B	4131	broad.mit.edu	37	5	71482446	71482446	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:71482446C>A	ENST00000296755.7	+	4	673	c.375C>A	c.(373-375)cgC>cgA	p.R125R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	125					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCAGGTGCGCTTAATGATCA	0.552																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(373-375)CGC>CGA		microtubule-associated protein 1B							129.0	124.0	126.0					5																	71482446		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71482446C>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.375C>A	5.37:g.71482446C>A						MAP1B_uc010iyw.1_Silent_p.R125R|MAP1B_uc010iyx.1_5'UTR|MAP1B_uc010iyy.1_5'UTR	p.R125R	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	616	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	125					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.375C>A	CCDS4012.1																																																																																				0.552	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		15	92	1	0	0.000422831	0.000728704	15	92				
CMYA5	202333	broad.mit.edu	37	5	79030276	79030276	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:79030276G>T	ENST00000446378.2	+	2	5719	c.5688G>T	c.(5686-5688)ttG>ttT	p.L1896F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1896					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTGGATGTTGGGAAAGCCAG	0.433																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(5686-5688)TTG>TTT		cardiomyopathy associated 5							47.0	47.0	47.0					5																	79030276		1876	4102	5978	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79030276G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5688G>T	5.37:g.79030276G>T	ENSP00000394770:p.Leu1896Phe						p.L1896F	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	5760	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1896					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.5688G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592306	0.86953	.	.	ENSG00000164309	ENST00000446378	T	0.11277	2.79	5.8	-1.05	0.10036	.	0.376679	0.19579	N	0.110902	T	0.15912	0.0383	L	0.43923	1.385	0.09310	N	1	D	0.71674	0.998	P	0.62014	0.897	T	0.06844	-1.0804	10	0.56958	D	0.05	.	5.5153	0.16904	0.451:0.1397:0.4093:0.0	.	1896	Q8N3K9	CMYA5_HUMAN	F	1896	ENSP00000394770:L1896F	ENSP00000394770:L1896F	L	+	3	2	CMYA5	79066032	0.000000	0.05858	0.012000	0.15200	0.929000	0.56500	-0.087000	0.11215	-0.048000	0.13401	0.650000	0.86243	TTG		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		11	52	1	0	4.69e-08	8.99e-08	11	52				
DHFR	1719	broad.mit.edu	37	5	79945217	79945217	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:79945217C>T	ENST00000439211.2	-	3	726	c.233G>A	c.(232-234)aGa>aAa	p.R78K	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Missense_Mutation_p.R78K|DHFR_ENST00000504396.1_Missense_Mutation_p.R26K|DHFR_ENST00000505337.1_Missense_Mutation_p.R78K	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	78	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	CTTGAGTTCTCTGCTGAGAAC	0.343																																						uc003kgy.1		NA																	0					0						c.(232-234)AGA>AAA		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						54.0	53.0	53.0					5																	79945217		2105	4262	6367	SO:0001583	missense	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79945217C>T		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.233G>A	5.37:g.79945217C>T	ENSP00000396308:p.Arg78Lys					DHFR_uc011ctl.1_Missense_Mutation_p.R158K|DHFR_uc011ctm.1_Missense_Mutation_p.R26K|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Missense_Mutation_p.R227K	p.R78K	NM_000791	NP_000782	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	3	725	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	78			NADP.|DHFR.		B4DDD2|Q14130|Q6IRW8	Missense_Mutation	SNP	ENST00000439211.2	37	c.233G>A	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906034	0.52333	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.41	5.41	0.78517	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	.	.	.	.	T	0.68970	0.3059	L	0.57536	1.79	0.54753	D	0.999989	B;B;B	0.13145	0.007;0.002;0.002	B;B;B	0.18871	0.023;0.014;0.014	T	0.63269	-0.6675	8	.	.	.	-13.6275	11.4602	0.50206	0.0:0.9161:0.0:0.0839	.	78;78;78	B4DM58;P00374;B0YJ76	.;DYR_HUMAN;.	K	78;78;78;26	ENSP00000396308:R78K;ENSP00000426474:R78K;ENSP00000422732:R78K;ENSP00000421334:R26K	.	R	-	2	0	DHFR	79980973	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.084000	0.57650	2.524000	0.85096	0.557000	0.71058	AGA		0.343	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		9	34	0	0	0	0	9	34				
RASGRF2	5924	broad.mit.edu	37	5	80376426	80376426	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:80376426G>C	ENST00000265080.4	+	7	1046	c.979G>C	c.(979-981)Gat>Cat	p.D327H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	327	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGATCTGTTTGATATTTTGCT	0.433																																						uc003kha.1		NA																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(979-981)GAT>CAT		Ras protein-specific guanine							85.0	83.0	83.0					5																	80376426		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80376426G>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.979G>C	5.37:g.80376426G>C	ENSP00000265080:p.Asp327His					RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.D155H	p.D327H	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	7	979	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	327			DH.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.979G>C	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789213	0.90367	.	.	ENSG00000113319	ENST00000265080	T	0.62788	-0.0	5.7	5.7	0.88788	Dbl homology (DH) domain (5);	0.113578	0.64402	D	0.000004	T	0.78394	0.4276	M	0.63428	1.95	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.74023	0.982;0.968	T	0.79305	-0.1858	10	0.87932	D	0	.	19.8388	0.96673	0.0:0.0:1.0:0.0	.	327;327	D6RAS9;O14827	.;RGRF2_HUMAN	H	327	ENSP00000265080:D327H	ENSP00000265080:D327H	D	+	1	0	RASGRF2	80412182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.695000	0.91970	0.561000	0.74099	GAT		0.433	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		11	64	0	0	0	0	11	64				
GPR98	84059	broad.mit.edu	37	5	90073767	90073767	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:90073767G>C	ENST00000405460.2	+	62	12669	c.12573G>C	c.(12571-12573)tgG>tgC	p.W4191C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4191	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGTGTTCTGGAGGATATTCC	0.428																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12571-12573)TGG>TGC		G protein-coupled receptor 98 precursor							70.0	72.0	71.0					5																	90073767		1891	4113	6004	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90073767G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12573G>C	5.37:g.90073767G>C	ENSP00000384582:p.Trp4191Cys					GPR98_uc003kjt.2_Missense_Mutation_p.W1897C	p.W4191C	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	62	12669	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4191			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12573G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247632	0.59103	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.28895	1.59	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.59773	-0.7391	10	0.87932	D	0	.	18.816	0.92077	0.0:0.0:1.0:0.0	.	4191	Q8WXG9	GPR98_HUMAN	C	4191	ENSP00000384582:W4191C	ENSP00000296619:W4191C	W	+	3	0	GPR98	90109523	1.000000	0.71417	0.679000	0.29978	0.391000	0.30476	8.447000	0.90332	2.418000	0.82041	0.448000	0.29417	TGG		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	17	0	0	0	0	6	17				
TTC37	9652	broad.mit.edu	37	5	94842665	94842665	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:94842665G>A	ENST00000358746.2	-	30	3363	c.3065C>T	c.(3064-3066)gCa>gTa	p.A1022V	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1022						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATTTCTTATTGCAACATTGTA	0.323																																						uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(3064-3066)GCA>GTA		tetratricopeptide repeat domain 37							131.0	136.0	134.0					5																	94842665		2201	4300	6501	SO:0001583	missense	9652						binding	g.chr5:94842665G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3065C>T	5.37:g.94842665G>A	ENSP00000351596:p.Ala1022Val						p.A1022V	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			30	3335	-			1022			TPR 17.		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3065C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602299	0.28534	.	.	ENSG00000198677	ENST00000358746	T	0.55413	0.52	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);	0.577510	0.19366	N	0.116026	T	0.47911	0.1471	L	0.38175	1.15	0.23361	N	0.997832	B	0.15719	0.014	B	0.17979	0.02	T	0.33574	-0.9863	10	0.37606	T	0.19	.	19.5952	0.95535	0.0:0.0:1.0:0.0	.	1022	Q6PGP7	TTC37_HUMAN	V	1022	ENSP00000351596:A1022V	ENSP00000351596:A1022V	A	-	2	0	TTC37	94868421	0.997000	0.39634	0.012000	0.15200	0.081000	0.17604	6.284000	0.72652	2.699000	0.92147	0.655000	0.94253	GCA		0.323	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		10	56	0	0	0	0	10	56				
DMXL1	1657	broad.mit.edu	37	5	118469789	118469789	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:118469789G>C	ENST00000311085.8	+	12	2250	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.E724Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	724										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGGAGTTTCTGAGCTTGCCCG	0.463																																						uc003ksd.2		NA																	0				ovary(2)	2						c.(2170-2172)GAG>CAG		Dmx-like 1							104.0	101.0	102.0					5																	118469789		2202	4298	6500	SO:0001583	missense	1657							g.chr5:118469789G>C	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2170G>C	5.37:g.118469789G>C	ENSP00000309690:p.Glu724Gln					DMXL1_uc010jcl.1_Missense_Mutation_p.E724Q|DMXL1_uc003ksc.1_Missense_Mutation_p.E724Q	p.E724Q	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2351	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	724						Missense_Mutation	SNP	ENST00000311085.8	37	c.2170G>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375607	0.82682	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.49720	0.77;0.77	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73148	-0.4074	9	.	.	.	-11.6864	19.4667	0.94945	0.0:0.0:1.0:0.0	.	724;724	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	724	ENSP00000309690:E724Q;ENSP00000439479:E724Q	.	E	+	1	0	DMXL1	118497688	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.471000	0.97696	2.603000	0.88011	0.467000	0.42956	GAG		0.463	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		15	105	0	0	0	0	15	105				
FBN2	2201	broad.mit.edu	37	5	127647623	127647623	+	Silent	SNP	G	G	C	rs201071253		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127647623G>C	ENST00000508053.1	-	44	5876	c.4902C>G	c.(4900-4902)ccC>ccG	p.P1634P	FBN2_ENST00000262464.4_Silent_p.P1634P			P35556	FBN2_HUMAN	fibrillin 2	1634					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)		CTTCACCTCCGGGACACAGGG	0.408																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4900-4902)CCC>CCG		fibrillin 2 precursor							68.0	66.0	67.0					5																	127647623		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.chr5:127647623G>C	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.4902C>G	5.37:g.127647623G>C							p.P1634P	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)	38	5341	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1634					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4902C>G	CCDS34222.1																																																																																				0.408	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	30	0	0	0	0	7	30				
FBN2	2201	broad.mit.edu	37	5	127648347	127648347	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127648347T>A	ENST00000508053.1	-	43	5832	c.4858A>T	c.(4858-4860)Aca>Tca	p.T1620S	FBN2_ENST00000262464.4_Missense_Mutation_p.T1620S			P35556	FBN2_HUMAN	fibrillin 2	1620	TB 6.				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)		GGGGGGCATGTCTCACAGGGG	0.512																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4858-4860)ACA>TCA		fibrillin 2 precursor							207.0	223.0	218.0					5																	127648347		2203	4300	6503	SO:0001583	missense	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.chr5:127648347T>A	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.4858A>T	5.37:g.127648347T>A	ENSP00000424571:p.Thr1620Ser						p.T1620S	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)	37	5297	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1620			TB 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4858A>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234261	0.39498	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92495	-3.05;-3.05	5.41	5.41	0.78517	Matrix fibril-associated (3);TGF-beta binding (1);	0.097259	0.44902	D	0.000415	T	0.81945	0.4930	N	0.08118	0	0.28805	N	0.898574	B	0.02656	0.0	B	0.04013	0.001	T	0.64279	-0.6445	10	0.07644	T	0.81	.	15.612	0.76733	0.0:0.0:0.0:1.0	.	1620	P35556	FBN2_HUMAN	S	1620	ENSP00000262464:T1620S;ENSP00000424571:T1620S	ENSP00000262464:T1620S	T	-	1	0	FBN2	127676246	0.979000	0.34478	0.998000	0.56505	0.951000	0.60555	1.165000	0.31822	2.281000	0.76405	0.533000	0.62120	ACA		0.512	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		51	211	0	0	0	0	51	211				
FBN2	2201	broad.mit.edu	37	5	127686626	127686626	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:127686626G>A	ENST00000508053.1	-	27	3720	c.2746C>T	c.(2746-2748)Ctg>Ttg	p.L916L	FBN2_ENST00000262464.4_Silent_p.L916L|FBN2_ENST00000508989.1_Silent_p.L883L			P35556	FBN2_HUMAN	fibrillin 2	916	TB 4.				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)		TCAGATTTCAGAGTGGCTCCA	0.567																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2746-2748)CTG>TTG		fibrillin 2 precursor							70.0	73.0	72.0					5																	127686626		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.chr5:127686626G>A	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.2746C>T	5.37:g.127686626G>A						FBN2_uc003kuv.2_Silent_p.L883L	p.L916L	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)	21	3185	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	916			TB 4.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.2746C>T	CCDS34222.1																																																																																				0.567	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		6	68	0	0	0	0	6	68				
ADAMTS19	171019	broad.mit.edu	37	5	129039981	129039981	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:129039981C>T	ENST00000274487.4	+	21	3336	c.3191C>T	c.(3190-3192)aCc>aTc	p.T1064I	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1064	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTTAGATGTACCAACCCAAGA	0.448																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(3190-3192)ACC>ATC		ADAM metallopeptidase with thrombospondin type 1							238.0	212.0	221.0					5																	129039981		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129039981C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3191C>T	5.37:g.129039981C>T	ENSP00000274487:p.Thr1064Ile					ADAMTS19_uc010jdh.1_RNA	p.T1064I	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	21	3191	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1064			TSP type-1 4.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3191C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922380	0.52653	.	.	ENSG00000145808	ENST00000274487	T	0.53423	0.62	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.58623	0.2135	L	0.41079	1.255	0.58432	D	0.999994	D	0.63880	0.993	D	0.65140	0.932	T	0.54227	-0.8325	9	.	.	.	.	18.3946	0.90494	0.0:1.0:0.0:0.0	.	1064	Q8TE59	ATS19_HUMAN	I	1064	ENSP00000274487:T1064I	.	T	+	2	0	ADAMTS19	129067880	1.000000	0.71417	0.966000	0.40874	0.156000	0.22039	5.988000	0.70579	2.758000	0.94735	0.655000	0.94253	ACC		0.448	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		9	102	0	0	0	0	9	102				
CHSY3	337876	broad.mit.edu	37	5	129520705	129520705	+	Missense_Mutation	SNP	C	C	G	rs368982175		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:129520705C>G	ENST00000305031.4	+	3	2228	c.1870C>G	c.(1870-1872)Ctc>Gtc	p.L624V		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	624					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGTACACATTCTCGTTCCTCT	0.348																																						uc003kvd.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1870-1872)CTC>GTC		chondroitin sulfate synthase 3		C	VAL/LEU	1,4405	2.1+/-5.4	0,1,2202	69.0	70.0	70.0		1870	4.1	1.0	5		70	0,8600		0,0,4300	no	missense	CHSY3	NM_175856.4	32	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	624/883	129520705	1,13005	2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520705C>G	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1870C>G	5.37:g.129520705C>G	ENSP00000302629:p.Leu624Val						p.L624V	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1870	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	624			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1870C>G	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	8.919	0.960666	0.18583	2.27E-4	0.0	ENSG00000198108	ENST00000305031	T	0.27720	1.65	4.12	4.12	0.48240	.	0.000000	0.49305	D	0.000156	T	0.23727	0.0574	N	0.21373	0.66	0.52099	D	0.99994	B	0.27140	0.169	B	0.31101	0.124	T	0.05225	-1.0898	9	.	.	.	-5.3477	17.6798	0.88239	0.0:1.0:0.0:0.0	.	624	Q70JA7	CHSS3_HUMAN	V	624	ENSP00000302629:L624V	.	L	+	1	0	CHSY3	129548604	1.000000	0.71417	0.980000	0.43619	0.960000	0.62799	3.842000	0.55858	2.559000	0.86315	0.650000	0.86243	CTC		0.348	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		13	46	0	0	0	0	13	46				
IL5	3567	broad.mit.edu	37	5	131879137	131879137	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:131879137G>C	ENST00000231454.1	-	1	77	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5	12					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of eosinophil differentiation (GO:0045645)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of podosome assembly (GO:0071803)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-5 receptor binding (GO:0005137)			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	GCAGCTCCAAGAGCTAGCAAA	0.488																																						uc003kxe.1		NA																	0					0						c.(34-36)CTT>GTT		interleukin 5 precursor	Pranlukast(DB01411)						168.0	155.0	159.0					5																	131879137		2203	4300	6503	SO:0001583	missense	3567				immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding	g.chr5:131879137G>C	X04688	CCDS4156.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000113525	ENSG00000113525		"""Interleukins and interleukin receptors"""	6016	protein-coding gene	gene with protein product	"""interleukin-5"", ""T-cell replacing factor"", ""B cell differentiation factor I"", ""eosinophil differentiation factor"", ""colony-stimulating factor, eosinophil"""	147850	"""interleukin 5 (colony-stimulating factor, eosinophil)"""			3498940	Standard	NM_000879		Approved	IL-5, EDF, TRF	uc003kxe.1	P05113	OTTHUMG00000059496	ENST00000231454.1:c.34C>G	5.37:g.131879137G>C	ENSP00000231454:p.Leu12Val						p.L12V	NM_000879	NP_000870	P05113	IL5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	78	-		all_cancers(142;0.0368)|Breast(839;0.198)	12					Q13840	Missense_Mutation	SNP	ENST00000231454.1	37	c.34C>G	CCDS4156.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528660	0.27387	.	.	ENSG00000113525	ENST00000231454	.	.	.	5.67	4.79	0.61399	.	0.000000	0.45361	D	0.000362	T	0.56761	0.2007	M	0.68317	2.08	0.19775	N	0.999951	D	0.71674	0.998	D	0.63877	0.919	T	0.51996	-0.8634	9	0.87932	D	0	-10.407	9.5568	0.39343	0.093:0.0:0.907:0.0	.	12	P05113	IL5_HUMAN	V	12	.	ENSP00000231454:L12V	L	-	1	0	IL5	131907036	0.175000	0.23083	0.250000	0.24296	0.191000	0.23601	0.992000	0.29667	2.671000	0.90904	0.557000	0.71058	CTT		0.488	IL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132339.1	NM_000879		6	94	0	0	0	0	6	94				
RAD50	10111	broad.mit.edu	37	5	131973799	131973799	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:131973799G>A	ENST00000265335.6	+	23	3889	c.3502G>A	c.(3502-3504)Gat>Aat	p.D1168N	AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000435042.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.D1029N|AC004041.2_ENST00000417516.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1168					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATACGGTCTGATGCCGATGA	0.398								Homologous recombination																														uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(3502-3504)GAT>AAT	Homologous_recombination	RAD50 homolog isoform 1							108.0	102.0	104.0					5																	131973799		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131973799G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3502G>A	5.37:g.131973799G>A	ENSP00000265335:p.Asp1168Asn					RAD50_uc003kxh.2_Missense_Mutation_p.D1029N	p.D1168N	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		23	3889	+		all_cancers(142;0.0368)|Breast(839;0.198)	1168					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.3502G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356636	0.95854	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.03524	3.9;3.9	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	L	0.60957	1.885	0.80722	D	1	D	0.57571	0.98	P	0.51701	0.677	T	0.00091	-1.2084	10	0.56958	D	0.05	-24.4484	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1168	Q92878	RAD50_HUMAN	N	1029;1168	ENSP00000368100:D1029N;ENSP00000265335:D1168N	ENSP00000265335:D1168N	D	+	1	0	RAD50	132001698	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GAT		0.398	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		9	46	0	0	0	0	9	46				
DDX46	9879	broad.mit.edu	37	5	134143458	134143458	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:134143458G>A	ENST00000354283.4	+	16	2110	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	DDX46_ENST00000452510.2_Missense_Mutation_p.D659N			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	659	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATATGACAGAGATAGCATCAT	0.373																																					Colon(13;391 453 4901 21675 24897)	uc003kzw.2		NA																	0				ovary(1)	1						c.(1975-1977)GAT>AAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							83.0	84.0	83.0					5																	134143458		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134143458G>A		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1975G>A	5.37:g.134143458G>A	ENSP00000346236:p.Asp659Asn					DDX46_uc003kzv.1_RNA	p.D659N	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		16	2143	+			659			Helicase C-terminal.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.1975G>A	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483569	0.96307	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.75477	-0.94;-0.94	5.37	5.37	0.77165	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	N	0.04787	-0.16	0.80722	D	1	P	0.38048	0.616	P	0.51355	0.667	T	0.73694	-0.3902	10	0.44086	T	0.13	-25.0152	19.4737	0.94976	0.0:0.0:1.0:0.0	.	659	Q7L014	DDX46_HUMAN	N	659	ENSP00000416534:D659N;ENSP00000346236:D659N	ENSP00000346236:D659N	D	+	1	0	DDX46	134171357	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.797000	0.99108	2.676000	0.91093	0.561000	0.74099	GAT		0.373	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		11	46	0	0	0	0	11	46				
PSD2	84249	broad.mit.edu	37	5	139189229	139189229	+	Missense_Mutation	SNP	C	C	G	rs34206173	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:139189229C>G	ENST00000274710.3	+	2	409	c.204C>G	c.(202-204)ttC>ttG	p.F68L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	68					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGGCCTTCCATGGCCTCA	0.637													C|||	5	0.000998403	0.0038	0.0	5008	,	,		18749	0.0		0.0	False		,,,				2504	0.0					uc003leu.1		NA																	0				ovary(1)	1						c.(202-204)TTC>TTG		pleckstrin and Sec7 domain containing 2		C	LEU/PHE	34,4372	40.0+/-72.8	1,32,2170	82.0	85.0	84.0		204	-0.8	0.0	5	dbSNP_126	84	0,8600		0,0,4300	yes	missense	PSD2	NM_032289.2	22	1,32,6470	GG,GC,CC		0.0,0.7717,0.2614	benign	68/772	139189229	34,12972	2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139189229C>G	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.204C>G	5.37:g.139189229C>G	ENSP00000274710:p.Phe68Leu						p.F68L	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	409	+			68					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.204C>G	CCDS4216.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	0.009	-1.816869	0.00595	0.007717	0.0	ENSG00000146005	ENST00000274710	T	0.27402	1.67	4.64	-0.776	0.10984	.	0.748865	0.11505	N	0.557310	T	0.07593	0.0191	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35549	-0.9784	10	0.08179	T	0.78	.	7.1386	0.25543	0.0:0.4409:0.381:0.1781	rs34206173	68	Q9BQI7	PSD2_HUMAN	L	68	ENSP00000274710:F68L	ENSP00000274710:F68L	F	+	3	2	PSD2	139169413	0.000000	0.05858	0.025000	0.17156	0.125000	0.20455	-0.560000	0.05964	-0.287000	0.09064	0.561000	0.74099	TTC		0.637	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		12	67	0	0	0	0	12	67				
PCDHA7	56141	broad.mit.edu	37	5	140215588	140215588	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140215588G>C	ENST00000525929.1	+	1	1620	c.1620G>C	c.(1618-1620)gcG>gcC	p.A540A	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A540A	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(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)			CGCGCGATGCGGGCGTGCCGC	0.682																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NA																	0				ovary(2)|skin(2)	4						c.(1618-1620)GCG>GCC		protocadherin alpha 7 isoform 1 precursor							77.0	85.0	82.0					5																	140215588		2202	4297	6499	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215588G>C	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.1620G>C	5.37:g.140215588G>C						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_Silent_p.A540A	p.A540A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1620	+			540			Cadherin 5.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1620G>C	CCDS54918.1																																																																																				0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		36	155	0	0	0	0	36	155				
PCDHB5	26167	broad.mit.edu	37	5	140516518	140516518	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140516518C>G	ENST00000231134.5	+	1	1719	c.1502C>G	c.(1501-1503)tCc>tGc	p.S501C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTCGCCTCCCTGGTCTCC	0.657																																						uc003liq.2		NA																	0				skin(3)|ovary(2)	5						c.(1501-1503)TCC>TGC		protocadherin beta 5 precursor							104.0	103.0	104.0					5																	140516518		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516518C>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1502C>G	5.37:g.140516518C>G	ENSP00000231134:p.Ser501Cys						p.S501C	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1719	+			501			Extracellular (Potential).|Cadherin 5.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1502C>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122497	0.37436	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.03181	4.02	4.59	4.59	0.56863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	H	0.95611	3.695	0.42369	D	0.992448	D	0.89917	1.0	D	0.80764	0.994	T	0.50136	-0.8863	9	0.87932	D	0	.	17.4024	0.87464	0.0:1.0:0.0:0.0	.	501	Q9Y5E4	PCDB5_HUMAN	C	501;285	ENSP00000231134:S501C	ENSP00000231134:S501C	S	+	2	0	PCDHB5	140496702	0.000000	0.05858	0.010000	0.14722	0.064000	0.16182	0.735000	0.26115	2.282000	0.76494	0.430000	0.28490	TCC		0.657	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		34	131	0	0	0	0	34	131				
PCDHB6	56130	broad.mit.edu	37	5	140531479	140531479	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140531479G>C	ENST00000231136.1	+	1	1641	c.1641G>C	c.(1639-1641)ttG>ttC	p.L547F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L411F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCGCTTGCTGGTGCTGG	0.706																																						uc003lir.2		NA																	0				skin(1)	1						c.(1639-1641)TTG>TTC		protocadherin beta 6 precursor							44.0	53.0	50.0					5																	140531479		2201	4298	6499	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531479G>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1641G>C	5.37:g.140531479G>C	ENSP00000231136:p.Leu547Phe					PCDHB6_uc011dah.1_Missense_Mutation_p.L411F	p.L547F	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1641	+			547			Cadherin 5.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1641G>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986677	0.35036	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.52754	0.65;0.65	4.19	3.24	0.37175	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.46328	0.1387	L	0.55213	1.73	0.19300	N	0.999976	B	0.23490	0.086	B	0.37387	0.248	T	0.49103	-0.8974	9	0.87932	D	0	.	4.6564	0.12620	0.0869:0.1496:0.6098:0.1537	.	547	Q9Y5E3	PCDB6_HUMAN	F	411;547;332	ENSP00000438466:L411F;ENSP00000231136:L547F	ENSP00000231136:L547F	L	+	3	2	PCDHB6	140511663	0.000000	0.05858	0.937000	0.37676	0.806000	0.45545	-1.774000	0.01784	2.047000	0.60756	0.556000	0.70494	TTG		0.706	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		27	93	0	0	0	0	27	93				
PCDHB7	56129	broad.mit.edu	37	5	140554222	140554222	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140554222G>T	ENST00000231137.3	+	1	1980	c.1806G>T	c.(1804-1806)ctG>ctT	p.L602L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	602	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCCTGGCTGTCGTACCAGC	0.726																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1804-1806)CTG>CTT		protocadherin beta 7 precursor							24.0	37.0	33.0					5																	140554222		1944	3983	5927	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554222G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1806G>T	5.37:g.140554222G>T							p.L602L	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1980	+			602			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1806G>T	CCDS4249.1																																																																																				0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		17	87	1	0	0.00121646	0.00205948	17	87				
PCDHB12	56124	broad.mit.edu	37	5	140590115	140590115	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140590115C>A	ENST00000239450.2	+	1	1825	c.1636C>A	c.(1636-1638)Ctg>Atg	p.L546M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L209M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	546	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)	p.L546M(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGAGGCGCTGGTGCGCGT	0.697																																						uc003liz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1636-1638)CTG>ATG		protocadherin beta 12 precursor							34.0	40.0	38.0					5																	140590115		2202	4299	6501	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590115C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1636C>A	5.37:g.140590115C>A	ENSP00000239450:p.Leu546Met					PCDHB12_uc011dak.1_Missense_Mutation_p.L209M	p.L546M	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1825	+			546			Extracellular (Potential).|Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1636C>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176893	0.38413	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01998	4.51;4.51	3.41	1.34	0.21922	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.06325	0.0163	L	0.46614	1.455	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.36696	-0.9737	9	0.48119	T	0.1	.	4.952	0.14019	0.3404:0.5475:0.0:0.1121	.	546	Q9Y5F1	PCDBC_HUMAN	M	209;546;166	ENSP00000440199:L209M;ENSP00000239450:L546M	ENSP00000239450:L546M	L	+	1	2	PCDHB12	140570299	0.000000	0.05858	0.584000	0.28653	0.993000	0.82548	-0.558000	0.05978	0.557000	0.29117	0.485000	0.47835	CTG		0.697	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		19	76	1	0	0.00121646	0.00205948	19	76				
PCDHGB3	56102	broad.mit.edu	37	5	140752193	140752193	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140752193C>A	ENST00000576222.1	+	1	2363	c.2232C>A	c.(2230-2232)agC>agA	p.S744R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	744					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTACAGCGAAAGGACTT	0.512																																						uc003ljw.1		NA																	0					0						c.(2230-2232)AGC>AGA		protocadherin gamma subfamily B, 3 isoform 1							97.0	97.0	97.0					5																	140752193		2031	4199	6230	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140752193C>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2232C>A	5.37:g.140752193C>A	ENSP00000461862:p.Ser744Arg					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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.S744R|PCDHGA6_uc011dau.1_5'Flank	p.S744R	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2232	+			744			Cytoplasmic (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2232C>A	CCDS58980.1																																																																																				0.512	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		7	59	1	0	0.00307968	0.00513587	7	59				
PCDHGA6	56109	broad.mit.edu	37	5	140755150	140755150	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140755150C>A	ENST00000517434.1	+	1	1500	c.1500C>A	c.(1498-1500)ccC>ccA	p.P500P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGGCGCCCCTGTCCTCCT	0.592																																						uc003ljy.1		NA																	0				breast(1)	1						c.(1498-1500)CCC>CCA		protocadherin gamma subfamily A, 6 isoform 1							101.0	118.0	112.0					5																	140755150		2116	4247	6363	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755150C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1500C>A	5.37:g.140755150C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.P500P	p.P500P	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1500	+			500			Extracellular (Potential).|Cadherin 5.		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1500C>A	CCDS54926.1																																																																																				0.592	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		26	141	1	0	3.73e-12	7.6e-12	26	141				
PCDHGA7	56108	broad.mit.edu	37	5	140764245	140764245	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140764245G>C	ENST00000518325.1	+	1	1779	c.1779G>C	c.(1777-1779)gcG>gcC	p.A593A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	593	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAAAG	0.637																																						uc003lka.1		NA																	0					0						c.(1777-1779)GCG>GCC		protocadherin gamma subfamily A, 7 isoform 1							72.0	85.0	81.0					5																	140764245		2203	4300	6503	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764245G>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1779G>C	5.37:g.140764245G>C						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_uc003ljz.1_Silent_p.A593A	p.A593A	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1779	+			593			Extracellular (Potential).|Cadherin 6.		B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.1779G>C	CCDS54927.1																																																																																				0.637	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		23	104	0	0	0	0	23	104				
PCDHGA7	56108	broad.mit.edu	37	5	140764339	140764339	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140764339G>A	ENST00000518325.1	+	1	1873	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGGTGCGCAC	0.647																																						uc003lka.1		NA																	0					0						c.(1873-1875)GAG>AAG		protocadherin gamma subfamily A, 7 isoform 1							41.0	49.0	46.0					5																	140764339		2202	4300	6502	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764339G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1873G>A	5.37:g.140764339G>A	ENSP00000430024:p.Glu625Lys					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_uc003ljz.1_Missense_Mutation_p.E625K	p.E625K	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1873	+			625			Extracellular (Potential).|Cadherin 6.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1873G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	16.51	3.144561	0.57044	.	.	ENSG00000253537	ENST00000518325	T	0.53206	0.63	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74160	0.3680	M	0.87328	2.875	0.31579	N	0.655359	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.948	T	0.79356	-0.1837	9	0.87932	D	0	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	625;625	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	K	625	ENSP00000430024:E625K	ENSP00000430024:E625K	E	+	1	0	PCDHGA7	140744523	1.000000	0.71417	0.992000	0.48379	0.097000	0.18754	4.801000	0.62532	2.413000	0.81919	0.655000	0.94253	GAG		0.647	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		8	63	0	0	0	0	8	63				
PCDHGB7	56099	broad.mit.edu	37	5	140798050	140798050	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:140798050C>G	ENST00000398594.2	+	1	624	c.624C>G	c.(622-624)caC>caG	p.H208Q	PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	208	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCGCTCACCACTTGGTAC	0.498																																						uc003lkn.1		NA																	0				ovary(2)	2						c.(622-624)CAC>CAG		protocadherin gamma subfamily B, 7 isoform 1							69.0	70.0	70.0					5																	140798050		1939	4144	6083	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140798050C>G	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.624C>G	5.37:g.140798050C>G	ENSP00000381594:p.His208Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.H208Q|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.H208Q	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	769	+			208			Extracellular (Potential).|Cadherin 2.		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.624C>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	13.38	2.220723	0.39201	.	.	ENSG00000254122	ENST00000398594	T	0.52526	0.66	5.84	-3.13	0.05266	Cadherin (4);Cadherin-like (1);	0.615775	0.11932	U	0.515596	T	0.60104	0.2243	M	0.91972	3.26	0.09310	N	1	P;P	0.39903	0.494;0.694	P;B	0.44673	0.457;0.328	T	0.63129	-0.6706	10	0.59425	D	0.04	.	13.4538	0.61187	0.0:0.1833:0.0:0.8167	.	208;208	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	Q	208	ENSP00000381594:H208Q	ENSP00000381594:H208Q	H	+	3	2	PCDHGB7	140778234	0.000000	0.05858	0.032000	0.17829	0.819000	0.46315	-2.782000	0.00772	-0.463000	0.06973	0.655000	0.94253	CAC		0.498	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		20	41	0	0	0	0	20	41				
ARHGEF37	389337	broad.mit.edu	37	5	149006649	149006649	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:149006649C>T	ENST00000333677.6	+	11	1638	c.1475C>T	c.(1474-1476)cCa>cTa	p.P492L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	492						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCGCTCCTTCCAGGGTCTGAA	0.557																																						uc003lra.1		NA																	0					0						c.(1474-1476)CCA>CTA		hypothetical protein LOC389337							92.0	100.0	97.0					5																	149006649		2059	4204	6263	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149006649C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1475C>T	5.37:g.149006649C>T	ENSP00000328083:p.Pro492Leu						p.P492L	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			11	1539	+			492					Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1475C>T	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027749	0.75390	.	.	ENSG00000183111	ENST00000333677	T	0.56941	0.43	5.39	5.39	0.77823	Src homology-3 domain (1);	0.101421	0.64402	D	0.000002	T	0.52158	0.1717	L	0.59436	1.845	0.58432	D	0.999998	D	0.53745	0.962	P	0.48368	0.575	T	0.47611	-0.9104	10	0.10377	T	0.69	.	13.1202	0.59321	0.0:0.9224:0.0:0.0776	.	492	A1IGU5	ARH37_HUMAN	L	492	ENSP00000328083:P492L	ENSP00000328083:P492L	P	+	2	0	ARHGEF37	148986842	0.963000	0.33076	0.996000	0.52242	0.988000	0.76386	1.170000	0.31883	2.516000	0.84829	0.561000	0.74099	CCA		0.557	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		23	78	0	0	0	0	23	78				
MED7	9443	broad.mit.edu	37	5	156566373	156566373	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:156566373C>T	ENST00000286317.5	-	2	451	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	MED7_ENST00000420343.1_Missense_Mutation_p.E24K	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	24					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAATATTTTCATCCGTATAT	0.433																																						uc010jik.2		NA																	0					0						c.(70-72)GAA>AAA		mediator complex subunit 7							91.0	88.0	89.0					5																	156566373		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156566373C>T	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.70G>A	5.37:g.156566373C>T	ENSP00000286317:p.Glu24Lys					MED7_uc003lwm.3_Missense_Mutation_p.E24K	p.E24K	NM_001100816	NP_001094286	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	462	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	24						Missense_Mutation	SNP	ENST00000286317.5	37	c.70G>A	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134157	0.94517	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.83483	2.645	0.80722	D	1	D	0.63046	0.992	D	0.64877	0.93	D	0.83972	0.0327	9	0.54805	T	0.06	-22.8034	19.8411	0.96685	0.0:1.0:0.0:0.0	.	24	O43513	MED7_HUMAN	K	24	.	ENSP00000286317:E24K	E	-	1	0	MED7	156498951	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.498000	0.81546	2.683000	0.91414	0.655000	0.94253	GAA		0.433	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270		14	56	0	0	0	0	14	56				
FNDC9	408263	broad.mit.edu	37	5	156770191	156770191	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:156770191G>A	ENST00000312349.4	-	2	541	c.354C>T	c.(352-354)gcC>gcT	p.A118A	CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	118						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCAGCAGAATGGCCATCAGCA	0.592											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lwu.2		NA																	0					0						c.(352-354)GCC>GCT		hypothetical protein LOC408263							71.0	71.0	71.0					5																	156770191		2203	4300	6503	SO:0001819	synonymous_variant	408263					integral to membrane		g.chr5:156770191G>A	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.354C>T	5.37:g.156770191G>A			OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	p.A118A	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	542	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	118			Helical; (Potential).		A8K0Y6	Silent	SNP	ENST00000312349.4	37	c.354C>T	CCDS4337.1																																																																																				0.592	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		14	51	0	0	0	0	14	51				
GABRA6	2559	broad.mit.edu	37	5	161119065	161119065	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:161119065C>T	ENST00000274545.5	+	8	1378	c.945C>T	c.(943-945)ttC>ttT	p.F315F	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Silent_p.F305F			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	315					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CATTCGTCTTCTCTGCGCTTA	0.488										TCGA Ovarian(5;0.080)																												uc003lyu.2		NA																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(943-945)TTC>TTT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						174.0	144.0	154.0					5																	161119065		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119065C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.945C>T	5.37:g.161119065C>T		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Silent_p.F86F	p.F315F	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1283	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	315			Helical; (Probable).		A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.945C>T	CCDS4356.1																																																																																				0.488	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			10	92	0	0	0	0	10	92				
LCP2	3937	broad.mit.edu	37	5	169714999	169714999	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:169714999G>C	ENST00000046794.5	-	3	778	c.163C>G	c.(163-165)Cag>Gag	p.Q55E		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	55	SAM.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGGAACTTCTGGATGTCATTT	0.537																																						uc003man.1		NA																	0				ovary(1)	1						c.(163-165)CAG>GAG		lymphocyte cytosolic protein 2							89.0	89.0	89.0					5																	169714999		1895	4132	6027	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169714999G>C		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.163C>G	5.37:g.169714999G>C	ENSP00000046794:p.Gln55Glu					LCP2_uc011det.1_5'UTR	p.Q55E	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	3	370	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	55			SAM.		A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	c.163C>G	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911456	0.72983	.	.	ENSG00000043462	ENST00000046794	D	0.84589	-1.87	4.6	4.6	0.57074	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.138939	0.49916	N	0.000132	D	0.90212	0.6940	M	0.74881	2.28	0.80722	D	1	D	0.59357	0.985	P	0.62560	0.904	D	0.90115	0.4195	9	.	.	.	-19.9847	12.8166	0.57669	0.0:0.0:1.0:0.0	.	55	Q13094	LCP2_HUMAN	E	55	ENSP00000046794:Q55E	.	Q	-	1	0	LCP2	169647577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.474000	0.66781	2.398000	0.81561	0.650000	0.86243	CAG		0.537	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		11	31	0	0	0	0	11	31				
STK10	6793	broad.mit.edu	37	5	171471924	171471924	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:171471924C>T	ENST00000176763.5	-	19	3212	c.2869G>A	c.(2869-2871)Gcc>Acc	p.A957T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	957					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGAACTTGGCGGCCTTGCTT	0.597																																						uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2869-2871)GCC>ACC		serine/threonine kinase 10							85.0	80.0	82.0					5																	171471924		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171471924C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2869G>A	5.37:g.171471924C>T	ENSP00000176763:p.Ala957Thr						p.A957T	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		19	3169	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	957					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2869G>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591775	0.66219	.	.	ENSG00000072786	ENST00000176763;ENST00000520476;ENST00000545839	T	0.66995	-0.24	4.42	-0.135	0.13477	.	0.582582	0.17216	N	0.182506	T	0.29749	0.0743	N	0.01109	-1.01	0.24923	N	0.991962	B	0.02656	0.0	B	0.04013	0.001	T	0.28839	-1.0031	10	0.20519	T	0.43	.	7.5275	0.27664	0.0:0.444:0.0:0.556	.	957	O94804	STK10_HUMAN	T	957;248;957	ENSP00000176763:A957T	ENSP00000176763:A957T	A	-	1	0	STK10	171404529	0.021000	0.18746	0.999000	0.59377	0.985000	0.73830	0.240000	0.18042	0.116000	0.18110	-0.290000	0.09829	GCC		0.597	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		11	52	0	0	0	0	11	52				
CPEB4	80315	broad.mit.edu	37	5	173376544	173376544	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:173376544C>G	ENST00000265085.5	+	6	2944	c.1490C>G	c.(1489-1491)cCt>cGt	p.P497R	CPEB4_ENST00000520867.1_Missense_Mutation_p.P472R|CPEB4_ENST00000517880.1_Missense_Mutation_p.P90R|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.P107R|CPEB4_ENST00000519835.1_Missense_Mutation_p.P472R|CPEB4_ENST00000334035.5_Missense_Mutation_p.P480R	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	497	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCTTTGGCCCTCTGATTGTG	0.308																																						uc003mcs.3		NA																	0					0						c.(1489-1491)CCT>CGT		cytoplasmic polyadenylation element binding							102.0	101.0	101.0					5																	173376544		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173376544C>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1490C>G	5.37:g.173376544C>G	ENSP00000265085:p.Pro497Arg					CPEB4_uc010jju.1_Missense_Mutation_p.P472R|CPEB4_uc010jjv.2_Missense_Mutation_p.P480R|CPEB4_uc011dfg.1_Missense_Mutation_p.P472R|CPEB4_uc003mct.3_Missense_Mutation_p.P107R|CPEB4_uc003mcu.3_Missense_Mutation_p.P90R	p.P497R	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		6	2896	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	497			RRM 1.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1490C>G	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862522	0.51482	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.097507	0.64402	D	0.000001	T	0.34571	0.0902	L	0.42581	1.335	0.47374	D	0.999409	B;P;B;B;B	0.35700	0.418;0.516;0.049;0.014;0.114	P;B;B;B;B	0.47941	0.562;0.333;0.13;0.05;0.141	T	0.01688	-1.1295	10	0.54805	T	0.06	-4.4882	20.2683	0.98464	0.0:1.0:0.0:0.0	.	472;480;472;107;497	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	R	497;472;480;472;107;90	ENSP00000265085:P497R;ENSP00000429092:P472R;ENSP00000334533:P480R;ENSP00000429048:P472R;ENSP00000430345:P107R;ENSP00000427990:P90R	ENSP00000265085:P497R	P	+	2	0	CPEB4	173309150	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.072000	0.64389	2.800000	0.96347	0.591000	0.81541	CCT		0.308	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		7	31	0	0	0	0	7	31				
GPRIN1	114787	broad.mit.edu	37	5	176026208	176026208	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:176026208C>T	ENST00000303991.4	-	2	805	c.628G>A	c.(628-630)Gat>Aat	p.D210N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	210					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|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)			GATCCAAGATCTTCCTTTCTT	0.507																																						uc003meo.1		NA																	0				ovary(2)	2						c.(628-630)GAT>AAT		G protein-regulated inducer of neurite outgrowth							67.0	68.0	68.0					5																	176026208		2203	4300	6503	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176026208C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.628G>A	5.37:g.176026208C>T	ENSP00000305839:p.Asp210Asn						p.D210N	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	803	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	210					C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.628G>A	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614963	0.46631	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.15372	2.43	4.45	2.62	0.31277	.	0.388726	0.18959	N	0.126451	T	0.15739	0.0379	M	0.63428	1.95	0.09310	N	1	B	0.21147	0.052	B	0.17433	0.018	T	0.26258	-1.0108	10	0.22706	T	0.39	.	7.0434	0.25033	0.0:0.7036:0.0:0.2964	.	210	Q7Z2K8	GRIN1_HUMAN	N	210	ENSP00000305839:D210N	ENSP00000305839:D210N	D	-	1	0	GPRIN1	175958814	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.847000	0.27696	0.403000	0.25479	0.563000	0.77884	GAT		0.507	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		7	82	0	0	0	0	7	82				
GRM6	2916	broad.mit.edu	37	5	178416278	178416278	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:178416278G>A	ENST00000517717.1	-	6	1179	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	GRM6_ENST00000231188.5_Missense_Mutation_p.R381C|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	381					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTGCATTTGCGGGTGGAATCG	0.617																																						uc003mjr.2		NA																	0				lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1141-1143)CGC>TGC		glutamate receptor, metabotropic 6 precursor							69.0	66.0	67.0					5																	178416278		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416278G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1141C>T	5.37:g.178416278G>A	ENSP00000430767:p.Arg381Cys					GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	p.R381C	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1320	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	381			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.1141C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801528	0.70682	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86865	-2.18;-2.18	5.14	5.14	0.70334	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.91978	0.7459	M	0.69823	2.125	0.53005	D	0.999969	D	0.71674	0.998	P	0.61658	0.892	D	0.92711	0.6183	9	0.72032	D	0.01	.	16.5054	0.84271	0.0:0.0:1.0:0.0	.	381	O15303	GRM6_HUMAN	C	413;381;381	ENSP00000231188:R381C;ENSP00000430767:R381C	ENSP00000231188:R381C	R	-	1	0	GRM6	178348884	0.969000	0.33509	0.961000	0.40146	0.645000	0.38454	3.691000	0.54720	2.570000	0.86706	0.655000	0.94253	CGC		0.617	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			14	30	0	0	0	0	14	30				
FLT4	2324	broad.mit.edu	37	5	180046692	180046692	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:180046692C>G	ENST00000261937.6	-	18	2698	c.2620G>C	c.(2620-2622)Gac>Cac	p.D874H	FLT4_ENST00000502649.1_Missense_Mutation_p.D874H|FLT4_ENST00000393347.3_Missense_Mutation_p.D874H|FLT4_ENST00000424276.2_5'Flank	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	874	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCACGGTGTCACAGCTGCTG	0.677																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(2620-2622)GAC>CAC		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						71.0	75.0	73.0					5																	180046692		2203	4300	6503	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180046692C>G	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2620G>C	5.37:g.180046692C>G	ENSP00000261937:p.Asp874His					FLT4_uc003mlz.3_Missense_Mutation_p.D874H|FLT4_uc003mmb.1_Missense_Mutation_p.D407H	p.D874H	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	18	2699	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	874			Cytoplasmic (Potential).|Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2620G>C	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514161	0.27123	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.89050	-2.46;-2.46;-2.46	4.28	2.49	0.30216	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.86727	0.6002	N	0.17594	0.5	0.42777	D	0.993854	P;P;P	0.48230	0.883;0.907;0.907	P;P;P	0.59761	0.634;0.863;0.863	D	0.84403	0.0561	9	0.44086	T	0.13	.	10.3809	0.44110	0.0:0.8389:0.0:0.1611	.	684;874;874	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	H	874;874;874;684	ENSP00000261937:D874H;ENSP00000377016:D874H;ENSP00000426057:D874H	ENSP00000261937:D874H	D	-	1	0	FLT4	179979298	1.000000	0.71417	0.999000	0.59377	0.033000	0.12548	2.709000	0.47160	0.565000	0.29255	-0.251000	0.11542	GAC		0.677	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	125	0	0	0	0	5	125				
BTNL9	153579	broad.mit.edu	37	5	180477289	180477289	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr5:180477289C>G	ENST00000327705.9	+	4	887	c.656C>G	c.(655-657)gCg>gGg	p.A219G	BTNL9_ENST00000515271.1_Missense_Mutation_p.A150G|BTNL9_ENST00000376841.2_Missense_Mutation_p.A219G|BTNL9_ENST00000376842.3_Missense_Mutation_p.A219G	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	219						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGTCCGAGCGGGAGCCCTC	0.557																																						uc003mmt.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(655-657)GCG>GGG		butyrophilin-like 9 precursor							116.0	116.0	116.0					5																	180477289		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180477289C>G	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.656C>G	5.37:g.180477289C>G	ENSP00000330200:p.Ala219Gly					BTNL9_uc011dhi.1_Missense_Mutation_p.A150G	p.A219G	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	887	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	219			Extracellular (Potential).		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.656C>G	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.183919	0.00026	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	4.68	-2.83	0.05769	.	1.495310	0.04339	N	0.353801	T	0.02267	0.0070	N	0.00760	-1.21	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40794	-0.9544	10	0.15952	T	0.53	.	4.1982	0.10453	0.5843:0.1173:0.179:0.1193	.	150;219	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	G	219;219;219;219;150	ENSP00000366037:A219G;ENSP00000330200:A219G;ENSP00000366038:A219G;ENSP00000427345:A150G	ENSP00000330200:A219G	A	+	2	0	BTNL9	180409895	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.516000	0.06282	-0.781000	0.04548	-0.997000	0.02515	GCG		0.557	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		24	91	0	0	0	0	24	91				
KIF13A	63971	broad.mit.edu	37	6	17764532	17764532	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:17764532C>T	ENST00000259711.6	-	39	5332	c.5227G>A	c.(5227-5229)Gag>Aag	p.E1743K	KIF13A_ENST00000378843.2_Missense_Mutation_p.E1695K|KIF13A_ENST00000378814.5_Missense_Mutation_p.E1695K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1708K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E1708K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1743					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTTTTCCCTCTGACACTCCC	0.493																																						uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(5227-5229)GAG>AAG		kinesin family member 13A isoform a							64.0	60.0	61.0					6																	17764532		1864	4107	5971	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764532C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5227G>A	6.37:g.17764532C>T	ENSP00000259711:p.Glu1743Lys					KIF13A_uc003ncf.2_Missense_Mutation_p.E1695K|KIF13A_uc003nch.3_Missense_Mutation_p.E1708K|KIF13A_uc003nci.3_Missense_Mutation_p.E1695K|KIF13A_uc003nce.1_Missense_Mutation_p.E294K	p.E1743K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		39	5332	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1743					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.5227G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741337	0.69304	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.78	5.78	0.91487	.	0.239284	0.41194	D	0.000931	T	0.23611	0.0571	N	0.14661	0.345	0.34504	D	0.706322	B;B;B;B	0.16396	0.004;0.017;0.004;0.001	B;B;B;B	0.15052	0.003;0.012;0.002;0.004	T	0.09357	-1.0678	10	0.62326	D	0.03	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1695;1708;1743;1695	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	K	1695;747;1743;1708;1695;1708	ENSP00000368091:E1695K;ENSP00000425616:E747K;ENSP00000259711:E1743K;ENSP00000368103:E1708K;ENSP00000368120:E1695K;ENSP00000368093:E1708K	ENSP00000259711:E1743K	E	-	1	0	KIF13A	17872511	0.997000	0.39634	0.436000	0.26797	0.985000	0.73830	5.317000	0.65822	2.894000	0.99253	0.591000	0.81541	GAG		0.493	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			19	40	0	0	0	0	19	40				
KIF13A	63971	broad.mit.edu	37	6	17817357	17817357	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:17817357G>A	ENST00000259711.6	-	17	1999	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	KIF13A_ENST00000378843.2_Missense_Mutation_p.R632C|KIF13A_ENST00000378814.5_Missense_Mutation_p.R632C|KIF13A_ENST00000378826.2_Missense_Mutation_p.R632C|KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378816.5_Missense_Mutation_p.R632C	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	632					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCTGCTGGCGGAGTTGCTCC	0.587																																						uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(1894-1896)CGC>TGC		kinesin family member 13A isoform a							48.0	57.0	54.0					6																	17817357		2082	4222	6304	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17817357G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1894C>T	6.37:g.17817357G>A	ENSP00000259711:p.Arg632Cys					KIF13A_uc003ncf.2_Missense_Mutation_p.R632C|KIF13A_uc003nch.3_Missense_Mutation_p.R632C|KIF13A_uc003nci.3_Missense_Mutation_p.R632C|KIF13A_uc003ncj.2_Missense_Mutation_p.R308C	p.R632C	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		17	1999	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	632			Potential.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.1894C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087907	0.76642	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.77	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.78805	0.4341	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.985;0.975;0.987;0.985;0.966	T	0.82438	-0.0457	10	0.87932	D	0	.	12.4775	0.55823	0.0678:0.0:0.8062:0.126	.	603;632;632;632;632	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	C	632	ENSP00000368091:R632C;ENSP00000259711:R632C;ENSP00000368103:R632C;ENSP00000368120:R632C;ENSP00000368093:R632C	ENSP00000259711:R632C	R	-	1	0	KIF13A	17925336	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.149000	0.64863	1.448000	0.47680	0.655000	0.94253	CGC		0.587	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			18	55	0	0	0	0	18	55				
RNF144B	255488	broad.mit.edu	37	6	18459890	18459890	+	Missense_Mutation	SNP	C	C	T	rs555075161		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:18459890C>T	ENST00000259939.3	+	6	906	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	RNF144B_ENST00000429054.2_Missense_Mutation_p.R108W	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	197					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CCCAGTTTGCCGGGTTTATAT	0.468																																						uc003ncs.2		NA																	0					0						c.(589-591)CGG>TGG		IBR domain containing 2							115.0	106.0	109.0					6																	18459890		2203	4300	6503	SO:0001583	missense	255488				apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18459890C>T	AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"""RING-type (C3HC4) zinc fingers"""	21578	protein-coding gene	gene with protein product			"""IBR domain containing 2"""	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.589C>T	6.37:g.18459890C>T	ENSP00000259939:p.Arg197Trp						p.R197W	NM_182757	NP_877434	Q7Z419	R144B_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)		6	893	+	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	197			RING-type 2; degenerate.		B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Missense_Mutation	SNP	ENST00000259939.3	37	c.589C>T	CCDS34345.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181687	0.78677	.	.	ENSG00000137393	ENST00000429054;ENST00000259939	T;T	0.81078	-1.45;-1.45	6.06	6.06	0.98353	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.050121	0.85682	D	0.000000	D	0.85927	0.5811	L	0.53729	1.69	0.45718	D	0.998628	D	0.89917	1.0	D	0.70716	0.97	T	0.82727	-0.0314	9	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	197	Q7Z419	R144B_HUMAN	W	108;197	ENSP00000411270:R108W;ENSP00000259939:R197W	.	R	+	1	2	RNF144B	18567869	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.398000	0.52579	2.882000	0.98803	0.655000	0.94253	CGG		0.468	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039965.2	XM_172581		5	74	0	0	0	0	5	74				
FAM65B	9750	broad.mit.edu	37	6	24843287	24843287	+	Missense_Mutation	SNP	C	C	G	rs202204524		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:24843287C>G	ENST00000259698.4	-	14	1898	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000540914.1_Missense_Mutation_p.E525Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E554Q|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.E525Q|FAM65B_ENST00000510784.2_Missense_Mutation_p.E559Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	575					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ATTGGCACCTCTGCAGATGTG	0.522																																						uc003neo.1		NA																	0				ovary(1)	1						c.(1723-1725)GAG>CAG		hypothetical protein LOC9750 isoform 1		C	GLN/GLU,GLN/GLU	0,3992		0,0,1996	183.0	186.0	185.0		1723,1573	5.5	0.9	6		185	1,8359		0,1,4179	yes	missense,missense	FAM65B	NM_014722.2,NM_015864.2	29,29	0,1,6175	GG,GC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging	575/1069,525/592	24843287	1,12351	1996	4180	6176	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843287C>G	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1723G>C	6.37:g.24843287C>G	ENSP00000259698:p.Glu575Gln					FAM65B_uc011djs.1_Missense_Mutation_p.E554Q|FAM65B_uc011dju.1_Missense_Mutation_p.E559Q|FAM65B_uc003nep.2_Missense_Mutation_p.E525Q|FAM65B_uc011djt.1_Missense_Mutation_p.E525Q	p.E575Q	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			14	1899	-			575					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.1723G>C	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991822	0.74703	0.0	1.2E-4	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.5	5.5	0.81552	.	0.141898	0.64402	D	0.000007	T	0.58177	0.2104	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.969;0.998;0.969;0.999	T	0.56159	-0.8025	10	0.45353	T	0.12	-25.4854	19.4007	0.94629	0.0:1.0:0.0:0.0	.	559;554;525;575	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	Q	575;554;525;525;559	ENSP00000259698:E575Q;ENSP00000441138:E554Q;ENSP00000367262:E525Q;ENSP00000438425:E525Q;ENSP00000441305:E559Q	ENSP00000259698:E575Q	E	-	1	0	FAM65B	24951266	1.000000	0.71417	0.950000	0.38849	0.800000	0.45204	7.294000	0.78760	2.573000	0.86826	0.563000	0.77884	GAG		0.522	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			21	216	0	0	0	0	21	216				
FAM65B	9750	broad.mit.edu	37	6	24873906	24873906	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:24873906C>G	ENST00000259698.4	-	3	398	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	FAM65B_ENST00000540914.1_Missense_Mutation_p.E75Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E104Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E75Q|FAM65B_ENST00000510784.2_Missense_Mutation_p.E109Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	75	Involved in cell filopodia formation.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TAGACTTCTTCCACCCTTTTA	0.448																																						uc003neo.1		NA																	0				ovary(1)	1						c.(223-225)GAA>CAA		hypothetical protein LOC9750 isoform 1							139.0	127.0	131.0					6																	24873906		1826	4082	5908	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24873906C>G	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.223G>C	6.37:g.24873906C>G	ENSP00000259698:p.Glu75Gln					FAM65B_uc011djs.1_Missense_Mutation_p.E104Q|FAM65B_uc011dju.1_Missense_Mutation_p.E109Q|FAM65B_uc003nep.2_Missense_Mutation_p.E75Q|FAM65B_uc011djt.1_Missense_Mutation_p.E75Q	p.E75Q	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			3	399	-			75			Involved in cell filopodia formation.		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.223G>C	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952195	0.92660	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02236	4.38;4.38;4.38;4.38;4.38	5.63	5.63	0.86233	.	0.095695	0.64402	D	0.000001	T	0.06096	0.0158	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.983;0.999;0.969;0.999	T	0.43343	-0.9397	10	0.66056	D	0.02	-21.2383	19.7096	0.96089	0.0:1.0:0.0:0.0	.	109;104;75;75	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	Q	75;104;75;75;109	ENSP00000259698:E75Q;ENSP00000441138:E104Q;ENSP00000367262:E75Q;ENSP00000438425:E75Q;ENSP00000441305:E109Q	ENSP00000259698:E75Q	E	-	1	0	FAM65B	24981885	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.465000	0.80898	2.652000	0.90054	0.655000	0.94253	GAA		0.448	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			15	72	0	0	0	0	15	72				
HIST1H3G	8355	broad.mit.edu	37	6	26271337	26271337	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:26271337G>T	ENST00000305910.3	-	1	275	c.276C>A	c.(274-276)gcC>gcA	p.A92A	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	92					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCCTGCAGGGCCATCACCG	0.562																																						uc003nhi.2		NA																	0					0						c.(274-276)GCC>GCA		H3 histone family, member H							89.0	91.0	90.0					6																	26271337		2203	4300	6503	SO:0001819	synonymous_variant	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271337G>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.276C>A	6.37:g.26271337G>T						uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	p.A92A	NM_003534	NP_003525	P68431	H31_HUMAN			1	276	-			92					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000305910.3	37	c.276C>A	CCDS4602.1																																																																																				0.562	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		29	122	1	0	1.14e-28	2.46e-28	29	122				
OR2B6	26212	broad.mit.edu	37	6	27925414	27925414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:27925414C>A	ENST00000244623.1	+	1	396	c.396C>A	c.(394-396)taC>taA	p.Y132*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTCCATTACTCAGTTATCA	0.493																																						uc011dkx.1		NA																	0				skin(1)	1						c.(394-396)TAC>TAA		olfactory receptor, family 2, subfamily B,							98.0	100.0	99.0					6																	27925414		2203	4300	6503	SO:0001587	stop_gained	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925414C>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.396C>A	6.37:g.27925414C>A	ENSP00000244623:p.Tyr132*						p.Y132*	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	396	+			132			Cytoplasmic (Potential).		O43883|Q6IF89|Q9H5B0	Nonsense_Mutation	SNP	ENST00000244623.1	37	c.396C>A	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	15.59	2.879867	0.51801	.	.	ENSG00000124657	ENST00000244623	.	.	.	3.68	2.8	0.32819	.	0.000000	0.31347	U	0.007816	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4628	0.38796	0.0:0.8878:0.0:0.1122	.	.	.	.	X	132	.	ENSP00000244623:Y132X	Y	+	3	2	OR2B6	28033393	0.165000	0.22948	1.000000	0.80357	0.657000	0.38888	0.744000	0.26245	0.817000	0.34445	0.563000	0.77884	TAC		0.493	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			14	156	1	0	1.58e-08	3.07e-08	14	156				
ZSCAN16	80345	broad.mit.edu	37	6	28093331	28093331	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:28093331G>T	ENST00000340487.4	+	2	259	c.110G>T	c.(109-111)aGg>aTg	p.R37M	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	37					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCTCACAGGAGGGAACTCTAT	0.532																																						uc003nkm.2		NA																	0				large_intestine(1)	1						c.(109-111)AGG>ATG		zinc finger and SCAN domain containing 16							206.0	211.0	210.0					6																	28093331		2203	4300	6503	SO:0001583	missense	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28093331G>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.110G>T	6.37:g.28093331G>T	ENSP00000366527:p.Arg37Met					uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Missense_Mutation_p.R37M	p.R37M	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN			2	210	+			37					Q9H6K2	Missense_Mutation	SNP	ENST00000340487.4	37	c.110G>T	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257168	0.39896	.	.	ENSG00000196812	ENST00000340487	T	0.05580	3.42	3.65	3.65	0.41850	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	.	.	.	.	T	0.10766	0.0263	M	0.68593	2.085	0.20764	N	0.999855	D;D	0.76494	0.99;0.999	P;D	0.63703	0.885;0.917	T	0.03662	-1.1015	9	0.62326	D	0.03	.	11.0487	0.47874	0.0:0.0:1.0:0.0	.	37;37	B4DFB7;Q9H4T2	.;ZSC16_HUMAN	M	37	ENSP00000366527:R37M	ENSP00000366527:R37M	R	+	2	0	ZSCAN16	28201310	0.299000	0.24426	0.322000	0.25334	0.631000	0.37964	1.310000	0.33551	2.030000	0.59900	0.557000	0.71058	AGG		0.532	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		8	251	1	0	0.00448238	0.00745725	8	251				
ZNF311	282890	broad.mit.edu	37	6	28971724	28971724	+	Splice_Site	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:28971724T>G	ENST00000377179.3	-	2	520	c.8A>C	c.(7-9)gAg>gCg	p.E3A	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	3					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(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TCTTCTTACCTCCTGCATCTT	0.463																																						uc003nlu.2		NA																	0					0						c.(7-9)GAG>GCG		zinc finger protein 311							211.0	188.0	196.0					6																	28971724		1511	2709	4220	SO:0001630	splice_region_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28971724T>G	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.9+1A>C	6.37:g.28971724T>G						ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR	p.E3A	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN			2	521	-			3					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.8A>C	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986597	0.35036	.	.	ENSG00000197935	ENST00000377179	T	0.05025	3.51	2.74	2.74	0.32292	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.25997	N	0.982161	B	0.22800	0.075	B	0.19946	0.027	T	0.47661	-0.9100	9	0.87932	D	0	-4.747	7.3429	0.26648	0.0:0.0:0.0:1.0	.	3	Q5JNZ3	ZN311_HUMAN	A	3	ENSP00000366384:E3A	ENSP00000366384:E3A	E	-	2	0	ZNF311	29079703	0.014000	0.17966	1.000000	0.80357	0.830000	0.47004	0.115000	0.15540	1.488000	0.48433	0.482000	0.46254	GAG		0.463	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581	Missense_Mutation	18	110	0	0	0	0	18	110				
OR2H1	26716	broad.mit.edu	37	6	29430223	29430223	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:29430223T>A	ENST00000377136.1	+	4	1142	c.677T>A	c.(676-678)aTt>aAt	p.I226N	OR2H1_ENST00000396792.2_Missense_Mutation_p.I226N|OR2H1_ENST00000377133.1_Missense_Mutation_p.I226N|OR2H1_ENST00000377132.1_Missense_Mutation_p.I226N|OR2H1_ENST00000442615.1_Missense_Mutation_p.I226N|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						GTGCTGAGGATTAACTCTGCC	0.537																																						uc003nmi.2		NA																	0					0						c.(676-678)ATT>AAT		olfactory receptor, family 2, subfamily H,							184.0	171.0	176.0					6																	29430223		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430223T>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.677T>A	6.37:g.29430223T>A	ENSP00000366340:p.Ile226Asn					OR2H1_uc003nmj.1_Missense_Mutation_p.I226N|OR2H1_uc010jri.1_Missense_Mutation_p.I148N	p.I226N	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			3	1120	+			226			Cytoplasmic (Potential).		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.677T>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889147	0.33348	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00285	8.3;8.3;8.3;8.3;8.3	3.09	0.468	0.16732	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	D	0.000910	T	0.00210	0.0006	M	0.81239	2.535	0.09310	N	1	D	0.53745	0.962	P	0.60345	0.873	T	0.38908	-0.9639	10	0.87932	D	0	.	7.8633	0.29522	0.0:0.1914:0.0:0.8086	.	226	Q9GZK4	OR2H1_HUMAN	N	226	ENSP00000366340:I226N;ENSP00000366337:I226N;ENSP00000393254:I226N;ENSP00000366336:I226N;ENSP00000380010:I226N	ENSP00000366336:I226N	I	+	2	0	OR2H1	29538202	0.699000	0.27786	0.010000	0.14722	0.544000	0.35116	0.724000	0.25954	0.095000	0.17434	0.491000	0.48974	ATT		0.537	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			22	133	0	0	0	0	22	133				
MDC1	9656	broad.mit.edu	37	6	30673437	30673437	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30673437C>A	ENST00000376406.3	-	10	4170	c.3523G>T	c.(3523-3525)Gac>Tac	p.D1175Y	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.D911Y	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1175	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ACAGGCTGGTCTGTGGAGGTG	0.552								Other conserved DNA damage response genes																														uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(3523-3525)GAC>TAC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							151.0	168.0	162.0					6																	30673437		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673437C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3523G>T	6.37:g.30673437C>A	ENSP00000365588:p.Asp1175Tyr					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.D782Y	p.D1175Y	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	3963	-			1175	Missing (in Ref. 2; CAH18685).		Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3523G>T	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.24|13.24	2.178242|2.178242	0.38511|0.38511	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000422104|ENST00000417033	T;T|.	0.15718|.	2.4;2.4|.	4.01|4.01	0.94|0.94	0.19513|0.19513	.|.	.|.	.|.	.|.	.|.	T|T	0.16257|0.16257	0.0391|0.0391	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	D;D|.	0.69078|.	0.997;0.989|.	D;P|.	0.64237|.	0.923;0.737|.	T|T	0.29671|0.29671	-1.0004|-1.0004	9|5	0.62326|.	D|.	0.03|.	-1.9246|-1.9246	2.8227|2.8227	0.05476|0.05476	0.1838:0.5322:0.1787:0.1052|0.1838:0.5322:0.1787:0.1052	.|.	911;1175|.	Q14676-2;Q14676|.	.;MDC1_HUMAN|.	Y|I	1175;911;782|235	ENSP00000365588:D1175Y;ENSP00000365587:D911Y|.	ENSP00000365587:D911Y|.	D|R	-|-	1|2	0|0	MDC1|MDC1	30781416|30781416	0.008000|0.008000	0.16893|0.16893	0.087000|0.087000	0.20705|0.20705	0.113000|0.113000	0.19764|0.19764	0.548000|0.548000	0.23314|0.23314	0.074000|0.074000	0.16767|0.16767	-0.532000|-0.532000	0.04303|0.04303	GAC|AGA		0.552	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		89	219	1	0	5.48e-45	1.19e-44	89	219				
DDR1	780	broad.mit.edu	37	6	30863278	30863278	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30863278C>T	ENST00000324771.8	+	14	2159	c.1611C>T	c.(1609-1611)ccC>ccT	p.P537P	DDR1_ENST00000452441.1_Silent_p.P537P|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000513240.1_Silent_p.P537P|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000361741.4_Missense_Mutation_p.P241L|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376575.3_Silent_p.P537P|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376568.3_Silent_p.P537P			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	537	Gly/Pro-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGGCCAAACCCACCAACACCC	0.677																																						uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(1609-1611)CCC>CCT		discoidin domain receptor family, member 1	Imatinib(DB00619)						57.0	72.0	67.0					6																	30863278		2201	4299	6500	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30863278C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1611C>T	6.37:g.30863278C>T						DDR1_uc010jse.2_Intron|DDR1_uc003nrq.2_Intron|DDR1_uc003nrs.2_Silent_p.P537P|DDR1_uc003nrt.2_Intron|DDR1_uc011dms.1_Intron|DDR1_uc003nru.2_Intron|DDR1_uc003nrv.2_Silent_p.P537P|DDR1_uc003nrw.1_Missense_Mutation_p.P309L|DDR1_uc003nry.1_Intron|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	p.P537P	NM_013993	NP_054699	Q08345	DDR1_HUMAN			13	1870	+			537			Gly/Pro-rich.|Cytoplasmic (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.1611C>T	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388866	0.42308	.	.	ENSG00000204580	ENST00000417521;ENST00000361741	T;T	0.80033	-1.25;-1.33	5.1	4.23	0.50019	.	0.650274	0.14997	N	0.286338	T	0.55242	0.1908	.	.	.	0.29498	N	0.855123	B	0.02656	0.0	B	0.04013	0.001	T	0.49437	-0.8940	9	0.39692	T	0.17	.	11.4703	0.50264	0.0:0.9117:0.0:0.0882	.	306	A2ABM8	.	L	306;241	ENSP00000398682:P306L;ENSP00000354844:P241L	ENSP00000354844:P241L	P	+	2	0	DDR1	30971257	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.036000	0.30228	1.154000	0.42482	0.460000	0.39030	CCA		0.677	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		29	107	0	0	0	0	29	107				
GTF2H4	2968	broad.mit.edu	37	6	30878470	30878470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:30878470C>T	ENST00000259895.4	+	5	626	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	GTF2H4_ENST00000539324.1_Nonsense_Mutation_p.Q79*|GTF2H4_ENST00000376316.2_Nonsense_Mutation_p.Q135*	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	135					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGACACAAGTCAGCTGGGACC	0.592								Nucleotide excision repair (NER)																														uc003nsa.1		NA																	0				ovary(2)|breast(1)	3						c.(403-405)CAG>TAG	NER	general transcription factor IIH, polypeptide 4,							92.0	68.0	77.0					6																	30878470		1511	2709	4220	SO:0001587	stop_gained	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30878470C>T	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.403C>T	6.37:g.30878470C>T	ENSP00000259895:p.Gln135*					GTF2H4_uc010jsf.2_Nonsense_Mutation_p.Q135*|GTF2H4_uc011dmv.1_Nonsense_Mutation_p.Q79*|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Nonsense_Mutation_p.Q141*	p.Q135*	NM_001517	NP_001508	Q92759	TF2H4_HUMAN			5	610	+			135					B4DTJ5|Q76KU4	Nonsense_Mutation	SNP	ENST00000259895.4	37	c.403C>T	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364482	0.95877	.	.	ENSG00000213780	ENST00000259895;ENST00000539324;ENST00000376316	.	.	.	5.28	5.28	0.74379	.	0.780744	0.11347	U	0.573386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-25.587	16.4627	0.84069	0.0:1.0:0.0:0.0	.	.	.	.	X	135;79;135	.	ENSP00000259895:Q135X	Q	+	1	0	GTF2H4	30986449	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.790000	0.47821	2.747000	0.94245	0.650000	0.86243	CAG		0.592	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		4	21	0	0	0	0	4	21				
CCHCR1	54535	broad.mit.edu	37	6	31112662	31112662	+	Splice_Site	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:31112662C>G	ENST00000376266.5	-	14	1920	c.1798G>C	c.(1798-1800)Gcc>Ccc	p.A600P	CCHCR1_ENST00000396268.3_Splice_Site_p.A689P|CCHCR1_ENST00000396263.2_Splice_Site_p.A547P|CCHCR1_ENST00000451521.2_Splice_Site_p.A653P	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	600					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTCTCGACACCTTGCCCGTAG	0.627																																						uc003nsr.3		NA																	0				skin(1)	1						c.(1798-1800)GCC>CCC		coiled-coil alpha-helical rod protein 1 isoform							99.0	102.0	101.0					6																	31112662		2203	4300	6503	SO:0001630	splice_region_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31112662C>G	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1798+1G>C	6.37:g.31112662C>G						CCHCR1_uc011dne.1_Missense_Mutation_p.A600P|CCHCR1_uc003nsq.3_Missense_Mutation_p.A653P|CCHCR1_uc003nsp.3_Missense_Mutation_p.A689P|CCHCR1_uc010jsk.1_Missense_Mutation_p.G600R	p.A600P	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			14	1921	-			600			Potential.		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1798G>C	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705893	0.48412	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	5.11	5.11	0.69529	.	0.087468	0.42172	D	0.000750	T	0.11793	0.0287	M	0.70595	2.14	0.37395	D	0.912617	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.99;0.999;0.958;0.984	T	0.04005	-1.0985	10	0.33940	T	0.23	-3.5434	14.022	0.64560	0.0:1.0:0.0:0.0	.	600;600;653;689	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	P	689;600;547;600;653	ENSP00000379566:A689P;ENSP00000365442:A600P;ENSP00000379561:A547P;ENSP00000401039:A653P	ENSP00000365442:A600P	A	-	1	0	CCHCR1	31220641	1.000000	0.71417	0.997000	0.53966	0.132000	0.20833	2.782000	0.47758	2.388000	0.81334	0.448000	0.29417	GCC		0.627	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	Missense_Mutation	26	121	0	0	0	0	26	121				
TNXB	7148	broad.mit.edu	37	6	32035750	32035750	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:32035750C>G	ENST00000375244.3	-	18	6433	c.6232G>C	c.(6232-6234)Gag>Cag	p.E2078Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2078Q			P22105	TENX_HUMAN	tenascin XB	2155	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGGGGTCTCTTCCTCTGCA	0.632																																						uc003nzl.2		NA																	0					0						c.(6232-6234)GAG>CAG		tenascin XB isoform 1 precursor							28.0	33.0	31.0					6																	32035750		1496	3332	4828	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32035750C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6232G>C	6.37:g.32035750C>G	ENSP00000364393:p.Glu2078Gln						p.E2078Q	NM_019105	NP_061978	P22105	TENX_HUMAN			18	6434	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.6232G>C		.	.	.	.	.	.	.	.	.	.	C	12.42	1.932045	0.34096	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56611	0.65;0.45	4.54	3.66	0.41972	.	0.000000	0.39985	N	0.001203	T	0.36799	0.0980	M	0.87758	2.905	0.09310	N	1	P	0.36789	0.57	B	0.37943	0.261	T	0.27434	-1.0074	10	0.20519	T	0.43	.	7.5834	0.27978	0.0:0.8843:0.0:0.1157	.	2078	P22105-3	.	Q	2078	ENSP00000364393:E2078Q;ENSP00000364396:E2078Q	ENSP00000364393:E2078Q	E	-	1	0	TNXB	32143728	0.002000	0.14202	0.997000	0.53966	0.816000	0.46133	0.435000	0.21510	2.072000	0.62099	0.456000	0.33151	GAG		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		12	39	0	0	0	0	12	39				
TNXB	7148	broad.mit.edu	37	6	32037926	32037926	+	Silent	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:32037926A>C	ENST00000375244.3	-	14	5457	c.5256T>G	c.(5254-5256)ccT>ccG	p.P1752P	TNXB_ENST00000375247.2_Silent_p.P1752P			P22105	TENX_HUMAN	tenascin XB	1834					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGCAGTGAGAGGGCCATGGC	0.642																																						uc003nzl.2		NA																	0					0						c.(5254-5256)CCT>CCG		tenascin XB isoform 1 precursor							23.0	27.0	26.0					6																	32037926		2029	4186	6215	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037926A>C	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5256T>G	6.37:g.32037926A>C							p.P1752P	NM_019105	NP_061978	P22105	TENX_HUMAN			14	5458	-			1834			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.5256T>G																																																																																					0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	19	0	0	0	0	9	19				
TCP11	6954	broad.mit.edu	37	6	35087972	35087972	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:35087972C>T	ENST00000512012.1	-	7	1235	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	TCP11_ENST00000412155.2_Missense_Mutation_p.R322H|TCP11_ENST00000444780.2_Missense_Mutation_p.R368H|TCP11_ENST00000418521.2_Missense_Mutation_p.R297H|TCP11_ENST00000373979.2_Missense_Mutation_p.R298H|TCP11_ENST00000244645.3_Missense_Mutation_p.R298H|TCP11_ENST00000311875.5_Missense_Mutation_p.R373H|TCP11_ENST00000373974.4_Missense_Mutation_p.R327H			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	360					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTTGGTTATGCGTTTCAGTTT	0.438																																						uc003okd.2		NA																	0				ovary(3)|skin(2)	5						c.(1117-1119)CGC>CAC		t-complex 11 isoform 1							72.0	69.0	70.0					6																	35087972		2203	4300	6503	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35087972C>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.1079G>A	6.37:g.35087972C>T	ENSP00000425995:p.Arg360His					TCP11_uc003ojz.1_Missense_Mutation_p.R298H|TCP11_uc003oka.2_Missense_Mutation_p.R298H|TCP11_uc003okb.2_Missense_Mutation_p.R297H|TCP11_uc003okc.2_Missense_Mutation_p.R297H|TCP11_uc011dsu.1_Missense_Mutation_p.R355H|TCP11_uc011dsv.1_Missense_Mutation_p.R322H|TCP11_uc011dsw.1_Missense_Mutation_p.R327H	p.R373H	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			8	1299	-			360					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.1118G>A		.	.	.	.	.	.	.	.	.	.	C	3.207	-0.162391	0.06502	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.03	2.07	0.26955	.	0.465576	0.21825	N	0.068564	T	0.02610	0.0079	N	0.26130	0.795	0.09310	N	0.999999	B;B;B;B;B;B	0.20671	0.026;0.015;0.026;0.047;0.026;0.004	B;B;B;B;B;B	0.16722	0.011;0.011;0.011;0.016;0.011;0.005	T	0.39418	-0.9615	10	0.51188	T	0.08	.	4.4933	0.11824	0.1507:0.5054:0.0:0.344	.	327;322;368;433;360;298	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	H	298;322;298;373;368;327;297;360;219	ENSP00000363091:R298H;ENSP00000402816:R322H;ENSP00000244645:R298H;ENSP00000308708:R373H;ENSP00000404479:R368H;ENSP00000363085:R327H;ENSP00000415320:R297H;ENSP00000425995:R360H;ENSP00000421103:R219H	ENSP00000244645:R298H	R	-	2	0	TCP11	35195950	0.003000	0.15002	0.159000	0.22649	0.509000	0.34042	-0.019000	0.12546	0.560000	0.29169	0.557000	0.71058	CGC		0.438	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		4	24	0	0	0	0	4	24				
CPNE5	57699	broad.mit.edu	37	6	36767803	36767803	+	Silent	SNP	G	G	A	rs574969645		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:36767803G>A	ENST00000244751.2	-	4	852	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	76	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.F76F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTGCGCACGAAGTCAGGAT	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20960	0.0		0.0	False		,,,				2504	0.001					uc003omr.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(1)	1						c.(226-228)TTC>TTT		copine V							94.0	80.0	84.0					6																	36767803		2203	4300	6503	SO:0001819	synonymous_variant	57699							g.chr6:36767803G>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.228C>T	6.37:g.36767803G>A						CPNE5_uc003oms.1_Silent_p.F38F	p.F76F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN			4	295	-			76			C2 1.		Q7Z6C8	Silent	SNP	ENST00000244751.2	37	c.228C>T	CCDS4825.1																																																																																				0.552	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		9	34	0	0	0	0	9	34				
GCM1	8521	broad.mit.edu	37	6	52993189	52993189	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:52993189C>T	ENST00000259803.7	-	6	1337	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	376					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGAGACTGGACGTAGCTGTTA	0.478																																						uc003pbp.2		NA																	0				central_nervous_system(1)	1						c.(1126-1128)GTC>ATC		glial cells missing homolog a							190.0	189.0	189.0					6																	52993189		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993189C>T	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1126G>A	6.37:g.52993189C>T	ENSP00000259803:p.Val376Ile						p.V376I	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1335	-	Lung NSC(77;0.0755)		376					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.1126G>A	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746388	0.15710	.	.	ENSG00000137270	ENST00000259803	T	0.73897	-0.79	5.73	0.932	0.19466	.	0.921729	0.09295	N	0.821717	T	0.29882	0.0747	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.10474	-1.0628	10	0.24483	T	0.36	-24.399	1.7166	0.02902	0.3107:0.3879:0.0993:0.2021	.	376	Q9NP62	GCM1_HUMAN	I	376	ENSP00000259803:V376I	ENSP00000259803:V376I	V	-	1	0	GCM1	53101148	0.001000	0.12720	0.108000	0.21378	0.796000	0.44982	0.074000	0.14662	0.206000	0.20587	-0.218000	0.12543	GTC		0.478	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			14	165	0	0	0	0	14	165				
COL21A1	81578	broad.mit.edu	37	6	56044743	56044743	+	Silent	SNP	G	G	A	rs182718262		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:56044743G>A	ENST00000244728.5	-	3	670	c.273C>T	c.(271-273)ctC>ctT	p.L91L	COL21A1_ENST00000535941.1_Silent_p.L91L|COL21A1_ENST00000370819.1_Silent_p.L91L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	91	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATAGCTTCCGAGAGGAATCT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19698	0.0		0.001	False		,,,				2504	0.0					uc003pcs.2		NA																	0				ovary(2)	2						c.(271-273)CTC>CTT		collagen, type XXI, alpha 1 precursor							63.0	61.0	61.0					6																	56044743		1894	4118	6012	SO:0001819	synonymous_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044743G>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.273C>T	6.37:g.56044743G>A						COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Silent_p.L91L|COL21A1_uc003pcu.1_Silent_p.L91L	p.L91L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	505	-	Lung NSC(77;0.0483)		91			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.273C>T	CCDS55025.1																																																																																				0.453	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			4	14	0	0	0	0	4	14				
ZNF451	26036	broad.mit.edu	37	6	57013446	57013446	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:57013446G>C	ENST00000370706.4	+	10	2807	c.2563G>C	c.(2563-2565)Gac>Cac	p.D855H	RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D855H|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D855H|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	855					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAAAAGTTTAGACATGGAGAA	0.333																																						uc003pdm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2563-2565)GAC>CAC		zinc finger protein 451 isoform 1							45.0	47.0	46.0					6																	57013446		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013446G>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2563G>C	6.37:g.57013446G>C	ENSP00000359740:p.Asp855His					ZNF451_uc003pdl.2_Missense_Mutation_p.D855H|ZNF451_uc003pdn.1_Missense_Mutation_p.D855H|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.D855H	p.D855H	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2787	+	Lung NSC(77;0.145)		855					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2563G>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	9.012	0.982764	0.18889	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.21191	3.32;2.02;3.32	5.62	3.83	0.44106	.	0.315711	0.31041	N	0.008375	T	0.13927	0.0337	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.49559	0.925;0.761;0.802;0.802	P;B;B;B	0.45610	0.487;0.293;0.276;0.366	T	0.01829	-1.1265	10	0.54805	T	0.06	-3.5429	9.2703	0.37668	0.1721:0.0:0.8279:0.0	.	855;855;855;855	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	H	855	ENSP00000359740:D855H;ENSP00000350083:D855H;ENSP00000421645:D855H	ENSP00000350083:D855H	D	+	1	0	ZNF451	57121405	0.967000	0.33354	0.871000	0.34182	0.396000	0.30629	1.261000	0.32980	1.373000	0.46208	0.650000	0.86243	GAC		0.333	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		4	33	0	0	0	0	4	33				
PRIM2	5558	broad.mit.edu	37	6	57512590	57512590	+	3'UTR	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:57512590C>G	ENST00000389488.2	+	0	1505				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.P473H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ACTCCTCAACCCAAACCAAGT	0.393																																						uc003pdx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)CCC>CGC		DNA primase polypeptide 2							389.0	367.0	374.0					6																	57512590		1964	4157	6121	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512590C>G		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1502C>G	6.37:g.57512590C>G							p.P473R	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1505	+			473					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1418C>G																																																																																					0.393	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		16	364	0	0	0	0	16	364				
PHF3	23469	broad.mit.edu	37	6	64394442	64394442	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:64394442G>C	ENST00000262043.3	+	4	1159	c.819G>C	c.(817-819)ttG>ttC	p.L273F	PHF3_ENST00000509330.1_Missense_Mutation_p.L273F|PHF3_ENST00000393387.1_Missense_Mutation_p.L273F			Q92576	PHF3_HUMAN	PHD finger protein 3	273					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATGAAGCTTTGATGGAATGTA	0.348																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(817-819)TTG>TTC		PHD finger protein 3							88.0	92.0	91.0					6																	64394442		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394442G>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.819G>C	6.37:g.64394442G>C	ENSP00000262043:p.Leu273Phe					PHF3_uc010kaf.1_Missense_Mutation_p.L273F|PHF3_uc003pem.2_Missense_Mutation_p.L226F|PHF3_uc010kag.1_Missense_Mutation_p.L185F|PHF3_uc010kah.1_Missense_Mutation_p.L87F|PHF3_uc003pen.2_Missense_Mutation_p.L185F|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.L273F	p.L273F	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		3	845	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		273					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.819G>C	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	0.245	-1.010884	0.02095	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.51325	1.98;1.68;2.05;1.7;0.71;2.05	5.31	3.53	0.40419	.	0.615690	0.12396	N	0.472542	T	0.25419	0.0618	L	0.47716	1.5	0.09310	N	1	P;P	0.44429	0.622;0.835	B;P	0.45071	0.157;0.468	T	0.14727	-1.0462	10	0.56958	D	0.05	0.1036	5.1388	0.14948	0.0702:0.1262:0.5467:0.2569	.	273;273	Q92576;D6R9X2	PHF3_HUMAN;.	F	87;185;273;226;273;273	ENSP00000424694:L87F;ENSP00000425227:L185F;ENSP00000262043:L273F;ENSP00000424078:L226F;ENSP00000422841:L273F;ENSP00000377048:L273F	ENSP00000262043:L273F	L	+	3	2	PHF3	64452401	0.057000	0.20700	0.867000	0.34043	0.289000	0.27227	1.172000	0.31908	0.725000	0.32318	-0.143000	0.13931	TTG		0.348	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			5	63	0	0	0	0	5	63				
BAI3	577	broad.mit.edu	37	6	69949029	69949029	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:69949029G>C	ENST00000370598.1	+	20	3546	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	BAI3_ENST00000238918.8_Missense_Mutation_p.E115Q	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	909					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)				CATACGCTCTGAGAGATCCAT	0.373																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2725-2727)GAG>CAG		brain-specific angiogenesis inhibitor 3							181.0	176.0	178.0					6																	69949029		2203	4298	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949029G>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.2725G>C	6.37:g.69949029G>C	ENSP00000359630:p.Glu909Gln					BAI3_uc010kak.2_Missense_Mutation_p.E909Q|BAI3_uc011dxx.1_Missense_Mutation_p.E115Q|BAI3_uc003pex.1_Missense_Mutation_p.E39Q	p.E909Q	NM_001704	NP_001695	O60242	BAI3_HUMAN			20	3173	+		all_lung(197;0.212)	909			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2725G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493961	0.84962	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.36878	1.23;1.23	5.26	5.26	0.73747	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	L	0.53249	1.67	0.80722	D	1	B;D;D	0.89917	0.274;0.991;1.0	B;D;D	0.91635	0.197;0.982;0.999	T	0.52586	-0.8556	10	0.66056	D	0.02	.	18.8733	0.92325	0.0:0.0:1.0:0.0	.	115;909;909	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	Q	909;115	ENSP00000359630:E909Q;ENSP00000238918:E115Q	ENSP00000238918:E115Q	E	+	1	0	BAI3	70005750	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.450000	0.82876	0.655000	0.94253	GAG		0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			12	142	0	0	0	0	12	142				
SIM1	6492	broad.mit.edu	37	6	100868714	100868714	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:100868714G>A	ENST00000369208.3	-	10	1901	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	SIM1_ENST00000262901.4_Silent_p.S373S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	373	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)		TGGAGAGCCGGGATTTGGCCC	0.507																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(1117-1119)TCC>TCT		single-minded homolog 1							111.0	105.0	107.0					6																	100868714		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868714G>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.1119C>T	6.37:g.100868714G>A						SIM1_uc010kcu.2_Silent_p.S373S	p.S373S	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1326	-		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)	373			Single-minded C-terminal.|Nuclear localization signal (By similarity).		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1119C>T	CCDS5045.1																																																																																				0.507	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		11	37	0	0	0	0	11	37				
LAMA2	3908	broad.mit.edu	37	6	129513899	129513899	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:129513899G>T	ENST00000421865.2	+	12	1732	c.1683G>T	c.(1681-1683)ttG>ttT	p.L561F		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	561	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGGACGACTTGGACTCACCTC	0.557																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(1681-1683)TTG>TTT		laminin alpha 2 subunit isoform a precursor							59.0	58.0	59.0					6																	129513899		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129513899G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1683G>T	6.37:g.129513899G>T	ENSP00000400365:p.Leu561Phe					LAMA2_uc003qbo.2_Missense_Mutation_p.L561F	p.L561F	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	12	1788	+			561			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1683G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	5.068	0.198204	0.09652	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.35973	1.28	5.11	-10.2	0.00374	Laminin B type IV (1);	4.335720	0.00748	N	0.001042	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15549	-1.0433	10	0.12766	T	0.61	.	3.2047	0.06661	0.2094:0.0654:0.2961:0.4292	.	561;561	A6NF00;P24043	.;LAMA2_HUMAN	F	561	ENSP00000400365:L561F	ENSP00000346769:L561F	L	+	3	2	LAMA2	129555592	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.362000	0.02595	-2.830000	0.00339	-0.691000	0.03719	TTG		0.557	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	42	1	0	0.00198382	0.00332627	7	42				
EPB41L2	2037	broad.mit.edu	37	6	131222264	131222264	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:131222264G>C	ENST00000337057.3	-	7	1167	c.986C>G	c.(985-987)tCt>tGt	p.S329C	EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S329C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S329C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S329C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.S329C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	329	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGTCACAAAAGAGCAGGGCAG	0.547																																						uc003qch.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(985-987)TCT>TGT		erythrocyte membrane protein band 4.1-like 2							108.0	106.0	107.0					6																	131222264		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131222264G>C	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.986C>G	6.37:g.131222264G>C	ENSP00000338481:p.Ser329Cys					EPB41L2_uc003qcg.1_Missense_Mutation_p.S329C|EPB41L2_uc011eby.1_Missense_Mutation_p.S329C|EPB41L2_uc003qci.2_Missense_Mutation_p.S329C|EPB41L2_uc010kfk.2_Missense_Mutation_p.S329C|EPB41L2_uc010kfl.1_Missense_Mutation_p.S329C	p.S329C	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	7	1168	-	Breast(56;0.0639)		329			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.986C>G	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754159	0.89843	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.33	5.33	0.75918	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.92906	0.7743	H	0.95917	3.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.996;0.997;0.998;0.996	D	0.94354	0.7582	10	0.66056	D	0.02	.	19.3931	0.94592	0.0:0.0:1.0:0.0	.	329;329;329;329;329	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	C	329	ENSP00000434308:S329C;ENSP00000434576:S329C;ENSP00000402041:S329C;ENSP00000338481:S329C;ENSP00000376222:S329C;ENSP00000357110:S329C;ENSP00000436348:S329C;ENSP00000432803:S329C;ENSP00000431988:S329C;ENSP00000431647:S329C;ENSP00000436641:S329C	ENSP00000338481:S329C	S	-	2	0	EPB41L2	131263957	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	8.009000	0.88606	2.669000	0.90835	0.655000	0.94253	TCT		0.547	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			13	78	0	0	0	0	13	78				
CCDC170	80129	broad.mit.edu	37	6	151939225	151939225	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:151939225A>G	ENST00000239374.7	+	11	2190	c.2091A>G	c.(2089-2091)aaA>aaG	p.K697K	CCDC170_ENST00000367290.5_Silent_p.K704K|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	697																	CCTGCCTCAAAGATGTGACTA	0.463																																						uc003qol.2		NA																	0					0						c.(2089-2091)AAA>AAG		hypothetical protein LOC80129							105.0	102.0	103.0					6																	151939225		1981	4162	6143	SO:0001819	synonymous_variant	80129							g.chr6:151939225A>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.2091A>G	6.37:g.151939225A>G							p.K697K	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	11	2180	+		Ovarian(120;0.126)	697					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.2091A>G	CCDS43515.1																																																																																				0.463	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		11	58	0	0	0	0	11	58				
SYNE1	23345	broad.mit.edu	37	6	152786534	152786534	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:152786534G>C	ENST00000367255.5	-	18	2392	c.1791C>G	c.(1789-1791)ctC>ctG	p.L597L	SYNE1_ENST00000367248.3_Silent_p.L587L|SYNE1_ENST00000423061.1_Silent_p.L604L|SYNE1_ENST00000265368.4_Silent_p.L597L|SYNE1_ENST00000413186.2_Silent_p.L597L|SYNE1_ENST00000341594.5_Silent_p.L604L|SYNE1_ENST00000448038.1_Silent_p.L604L|SYNE1_ENST00000495090.2_Silent_p.L164L|SYNE1_ENST00000466159.2_Silent_p.L597L|SYNE1_ENST00000367253.4_Silent_p.L597L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	597					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTCTACTGAGAGATTCCTCC	0.443										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(1789-1791)CTC>CTG		spectrin repeat containing, nuclear envelope 1							135.0	115.0	122.0					6																	152786534		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152786534G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1791C>G	6.37:g.152786534G>C		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.L604L|SYNE1_uc003qou.3_Silent_p.L597L|SYNE1_uc010kjb.1_Silent_p.L580L|SYNE1_uc003qpa.1_Silent_p.L597L|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Silent_p.L113L|SYNE1_uc003qoz.2_Silent_p.L29L|SYNE1_uc003qoy.2_Silent_p.L164L	p.L597L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	18	2393	-		Ovarian(120;0.0955)	597			Cytoplasmic (Potential).|HAT 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.1791C>G	CCDS5236.2																																																																																				0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	41	0	0	0	0	8	41				
SYNE1	23345	broad.mit.edu	37	6	152826448	152826448	+	Silent	SNP	C	C	A	rs141368652	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:152826448C>A	ENST00000367255.5	-	9	1267	c.666G>T	c.(664-666)ccG>ccT	p.P222P	SYNE1_ENST00000367248.3_Silent_p.P229P|SYNE1_ENST00000423061.1_Silent_p.P229P|SYNE1_ENST00000265368.4_Silent_p.P222P|SYNE1_ENST00000413186.2_Silent_p.P222P|SYNE1_ENST00000341594.5_Silent_p.P222P|SYNE1_ENST00000448038.1_Silent_p.P229P|SYNE1_ENST00000466159.2_Silent_p.P222P|SYNE1_ENST00000367253.4_Silent_p.P222P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	222	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCACCAATTCCGGTCGAATGG	0.448										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(664-666)CCG>CCT		spectrin repeat containing, nuclear envelope 1							137.0	116.0	123.0					6																	152826448		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152826448C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.666G>T	6.37:g.152826448C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.P229P|SYNE1_uc003qou.3_Silent_p.P222P|SYNE1_uc010kjb.1_Silent_p.P222P|SYNE1_uc003qpa.1_Silent_p.P222P	p.P222P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	9	1268	-		Ovarian(120;0.0955)	222			Actin-binding.|CH 2.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.666G>T	CCDS5236.2																																																																																				0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	42	1	0	1.09e-07	2.07e-07	12	42				
CNKSR3	154043	broad.mit.edu	37	6	154763316	154763316	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:154763316C>T	ENST00000607772.1	-	3	869	c.325G>A	c.(325-327)Gat>Aat	p.D109N	CNKSR3_ENST00000479339.1_Missense_Mutation_p.D29N	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	109	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTGTTGCCATCGTAAGCGGGA	0.542																																						uc003qpy.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(325-327)GAT>AAT		CNKSR family member 3							79.0	85.0	83.0					6																	154763316		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154763316C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.325G>A	6.37:g.154763316C>T	ENSP00000475915:p.Asp109Asn						p.D109N	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	3	830	-		Ovarian(120;0.196)	109			CRIC.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.325G>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696261	0.88830	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	T;T	0.52983	1.36;0.64	5.81	4.94	0.65067	CRIC domain (1);CRIC domain, Chordata (1);	0.101949	0.64402	N	0.000005	T	0.54382	0.1855	M	0.63843	1.955	0.43238	D	0.995142	D	0.76494	0.999	D	0.65010	0.931	T	0.59311	-0.7478	10	0.52906	T	0.07	.	14.6288	0.68640	0.0:0.9302:0.0:0.0698	.	109	Q6P9H4	CNKR3_HUMAN	N	109;29	ENSP00000356182:D109N;ENSP00000418975:D29N	ENSP00000356182:D109N	D	-	1	0	CNKSR3	154805008	1.000000	0.71417	0.873000	0.34254	0.649000	0.38597	5.739000	0.68622	1.461000	0.47929	0.655000	0.94253	GAT		0.542	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		6	45	0	0	0	0	6	45				
SYNJ2	8871	broad.mit.edu	37	6	158516991	158516991	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:158516991T>C	ENST00000355585.4	+	27	4161	c.4086T>C	c.(4084-4086)aaT>aaC	p.N1362N	SYNJ2_ENST00000367112.1_Silent_p.N447N|SYNJ2_ENST00000367122.2_Silent_p.N1317N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1362					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCACTTACAATAGCAGTGACA	0.622																																						uc003qqx.1		NA																	0				skin(1)	1						c.(4084-4086)AAT>AAC		synaptojanin 2							28.0	31.0	30.0					6																	158516991		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516991T>C	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4086T>C	6.37:g.158516991T>C						SYNJ2_uc003qqy.1_Silent_p.N1075N|SYNJ2_uc003qqz.1_Silent_p.N979N|SYNJ2_uc003qra.1_Silent_p.N705N|SYNJ2_uc010kjp.1_Silent_p.N245N	p.N1362N	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	4161	+			1362			Catalytic (By similarity).		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.4086T>C	CCDS5254.1																																																																																				0.622	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			8	31	0	0	0	0	8	31				
MAS1	4142	broad.mit.edu	37	6	160328648	160328648	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:160328648T>G	ENST00000252660.4	+	1	675	c.661T>G	c.(661-663)Tcc>Gcc	p.S221A		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	221					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CACGTGGGCTTCCCATTCCTC	0.483																																						uc003qsz.2		NA																	0				ovary(2)|lung(2)	4						c.(661-663)TCC>GCC		MAS1 oncogene							125.0	121.0	122.0					6																	160328648		2203	4300	6503	SO:0001583	missense	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328648T>G	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.661T>G	6.37:g.160328648T>G	ENSP00000252660:p.Ser221Ala						p.S221A	NM_002377	NP_002368	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	675	+		Breast(66;0.000776)|Ovarian(120;0.0303)	221			Cytoplasmic (Potential).		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	c.661T>G	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	T	1.082	-0.666643	0.03428	.	.	ENSG00000130368	ENST00000252660	T	0.38560	1.13	5.47	-4.54	0.03452	GPCR, rhodopsin-like superfamily (1);	0.793849	0.11233	N	0.585404	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32348	-0.9910	10	0.06757	T	0.87	.	2.7297	0.05224	0.2088:0.1425:0.4532:0.1956	.	221	P04201	MAS_HUMAN	A	221	ENSP00000252660:S221A	ENSP00000252660:S221A	S	+	1	0	MAS1	160248638	0.000000	0.05858	0.001000	0.08648	0.367000	0.29736	-0.655000	0.05348	-1.089000	0.03073	-0.256000	0.11100	TCC		0.483	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		7	39	0	0	0	0	7	39				
PLG	5340	broad.mit.edu	37	6	161127476	161127476	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr6:161127476G>C	ENST00000308192.9	+	2	150	c.87G>C	c.(85-87)caG>caC	p.Q29H	PLG_ENST00000366924.2_Missense_Mutation_p.Q29H|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	29	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGAATACCCAGGGGGCTTCAC	0.458																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(85-87)CAG>CAC		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						111.0	111.0	111.0					6																	161127476		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161127476G>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.87G>C	6.37:g.161127476G>C	ENSP00000308938:p.Gln29His						p.Q29H	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	2	150	+			29			PAN.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.87G>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	12.67	2.008290	0.35415	.	.	ENSG00000122194	ENST00000366924;ENST00000308192;ENST00000418964	T;T;T	0.64085	-0.08;-0.08;-0.08	4.74	0.312	0.15837	PAN-1 domain (1);Apple-like (2);	0.459259	0.15371	U	0.265846	T	0.46619	0.1402	M	0.72118	2.19	0.27293	N	0.95779	B	0.33044	0.395	B	0.43478	0.421	T	0.52343	-0.8588	10	0.72032	D	0.01	.	4.9715	0.14117	0.3681:0.0:0.4933:0.1386	.	29	P00747	PLMN_HUMAN	H	29	ENSP00000355891:Q29H;ENSP00000308938:Q29H;ENSP00000389424:Q29H	ENSP00000308938:Q29H	Q	+	3	2	PLG	161047466	0.878000	0.30173	0.901000	0.35422	0.325000	0.28411	-0.255000	0.08769	0.068000	0.16574	0.655000	0.94253	CAG		0.458	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		22	105	0	0	0	0	22	105				
MAD1L1	8379	broad.mit.edu	37	7	2259027	2259027	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2259027C>A	ENST00000406869.1	-	6	1093	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MAD1L1_ENST00000402746.1_Missense_Mutation_p.R87L|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R179L|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R179L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	179					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)		p.R179Q(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCGCTTCACCCGCATCTCCTG	0.632																																						uc003slh.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(535-537)CGG>CTG		MAD1-like 1 protein							35.0	37.0	36.0					7																	2259027		2046	4218	6264	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2259027C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.536G>T	7.37:g.2259027C>A	ENSP00000385334:p.Arg179Leu					MAD1L1_uc003slf.1_Missense_Mutation_p.R179L|MAD1L1_uc003slg.1_Missense_Mutation_p.R179L|MAD1L1_uc010ksh.1_Missense_Mutation_p.R179L|MAD1L1_uc003sli.1_Missense_Mutation_p.R87L|MAD1L1_uc010ksi.1_Missense_Mutation_p.R132L|MAD1L1_uc010ksj.2_Missense_Mutation_p.R179L	p.R179L	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	6	802	-		Ovarian(82;0.0272)	179			Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.536G>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150212	0.21371	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000265854;ENST00000445959;ENST00000429625;ENST00000455998	T;T;T;T;T;D;T	0.82803	1.97;1.97;1.97;1.97;1.97;-1.65;-1.32	5.4	4.26	0.50523	.	0.314820	0.34555	N	0.003873	T	0.66436	0.2789	N	0.08118	0	0.22601	N	0.998944	B;B;B;B	0.31459	0.127;0.324;0.127;0.249	B;B;B;B	0.31751	0.03;0.135;0.048;0.069	T	0.58312	-0.7658	10	0.40728	T	0.16	-30.7929	9.7642	0.40550	0.0:0.0828:0.0:0.9172	.	108;179;87;179	C9K086;A4D218;B3KR41;Q9Y6D9	.;.;.;MD1L1_HUMAN	L	87;179;179;179;56;108;132	ENSP00000384155:R87L;ENSP00000382562:R179L;ENSP00000385334:R179L;ENSP00000265854:R179L;ENSP00000401901:R56L;ENSP00000413139:R108L;ENSP00000390099:R132L	ENSP00000265854:R179L	R	-	2	0	MAD1L1	2225553	1.000000	0.71417	0.994000	0.49952	0.830000	0.47004	2.551000	0.45820	0.915000	0.36847	-0.367000	0.07326	CGG		0.632	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		6	14	1	0	2.01e-06	3.72e-06	6	14				
MAD1L1	8379	broad.mit.edu	37	7	2275158	2275158	+	5'Flank	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2275158G>C	ENST00000406869.1	-	0	0				MAD1L1_ENST00000402746.1_5'Flank|MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000407040.1_Missense_Mutation_p.L20V|MAD1L1_ENST00000265854.7_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000242257.8_Missense_Mutation_p.L114V|FTSJ2_ENST00000440306.2_3'UTR			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AATATGTGAAGAAGATCTACC	0.468																																						uc003slm.2		NA																	0				ovary(1)	1						c.(340-342)CTT>GTT		FtsJ homolog 2							58.0	57.0	58.0					7																	2275158		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2275158G>C	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275158G>C	Exception_encountered					MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR	p.L114V	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	369	-		Ovarian(82;0.0253)	114					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.340C>G	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641860	0.87859	.	.	ENSG00000122687	ENST00000242257;ENST00000407040	T;T	0.42131	0.98;0.98	5.47	5.47	0.80525	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.66439	2.03	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.66164	-0.5992	10	0.66056	D	0.02	.	19.3348	0.94312	0.0:0.0:1.0:0.0	.	114	Q9UI43	RRMJ2_HUMAN	V	114;20	ENSP00000242257:L114V;ENSP00000384423:L20V	ENSP00000242257:L114V	L	-	1	0	FTSJ2	2241684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.237000	0.72345	2.565000	0.86533	0.655000	0.94253	CTT		0.468	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		10	51	0	0	0	0	10	51				
SNX8	29886	broad.mit.edu	37	7	2297046	2297046	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:2297046T>C	ENST00000222990.3	-	9	1130	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	363					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGGCTCGCGGTTCTGCGCGGT	0.677																																						uc003slw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1087-1089)AAC>AGC		sorting nexin 8							45.0	42.0	43.0					7																	2297046		2202	4299	6501	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2297046T>C	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.1088A>G	7.37:g.2297046T>C	ENSP00000222990:p.Asn363Ser						p.N363S	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	9	1131	-		Ovarian(82;0.11)	363					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.1088A>G	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	T	4.016	0.000434	0.07819	.	.	ENSG00000106266	ENST00000222990	T	0.21191	2.02	5.16	-2.95	0.05564	.	0.532873	0.21536	N	0.072976	T	0.09774	0.0240	L	0.29908	0.895	0.25874	N	0.983671	B	0.02656	0.0	B	0.06405	0.002	T	0.40001	-0.9586	10	0.07990	T	0.79	.	7.0209	0.24914	0.0:0.2769:0.1266:0.5965	.	363	Q9Y5X2	SNX8_HUMAN	S	363	ENSP00000222990:N363S	ENSP00000222990:N363S	N	-	2	0	SNX8	2263572	0.978000	0.34361	0.063000	0.19743	0.800000	0.45204	0.405000	0.21015	-0.396000	0.07703	0.459000	0.35465	AAC		0.677	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			5	17	0	0	0	0	5	17				
FOXK1	221937	broad.mit.edu	37	7	4796623	4796623	+	Splice_Site	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:4796623A>G	ENST00000328914.4	+	5	1050		c.e5-1		FOXK1_ENST00000446823.1_Splice_Site	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)		GCTTCCCTGCAGAATTCTATC	0.532																																						uc003snc.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.e5-2		forkhead box K1							69.0	71.0	70.0					7																	4796623		2203	4300	6503	SO:0001630	splice_region_variant	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.chr7:4796623A>G	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.1051-1A>G	7.37:g.4796623A>G						FOXK1_uc003sna.1_Splice_Site_p.N188_splice	p.N351_splice	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1061	+		Ovarian(82;0.0175)							Splice_Site	SNP	ENST00000328914.4	37	c.1051_splice	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.658917	0.88154	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3361	0.74255	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXK1	4763149	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.299000	0.96137	2.209000	0.71365	0.533000	0.62120	.		0.532	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		Intron	7	42	0	0	0	0	7	42				
RAC1	5879	broad.mit.edu	37	7	6441557	6441557	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:6441557A>G	ENST00000348035.4	+	5	560	c.347A>G	c.(346-348)aAa>aGa	p.K116R	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.K135R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	116					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GTGGGAACTAAACTTGATCTT	0.488																																						uc003spx.2		NA																	0				lung(2)	2						c.(346-348)AAA>AGA		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						145.0	122.0	130.0					7																	6441557		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441557A>G	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.347A>G	7.37:g.6441557A>G	ENSP00000258737:p.Lys116Arg					RAC1_uc003spw.2_Missense_Mutation_p.K135R	p.K116R	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	5	588	+		Ovarian(82;0.0776)	116			GTP (By similarity).		O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.347A>G	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	33	5.227294	0.95173	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.87179	-2.22;-2.22	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	H	0.99609	4.655	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.992	D	0.98860	1.0762	10	0.87932	D	0	.	16.2979	0.82784	1.0:0.0:0.0:0.0	.	116;135	P63000;A4D2P0	RAC1_HUMAN;.	R	116;135	ENSP00000258737:K116R;ENSP00000348461:K135R	ENSP00000258737:K116R	K	+	2	0	RAC1	6408082	1.000000	0.71417	0.875000	0.34327	0.997000	0.91878	9.119000	0.94362	2.241000	0.73720	0.533000	0.62120	AAA		0.488	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		4	81	0	0	0	0	4	81				
MEOX2	4223	broad.mit.edu	37	7	15725621	15725621	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:15725621G>C	ENST00000262041.5	-	1	816	c.407C>G	c.(406-408)tCc>tGc	p.S136C	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	136					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.S136F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGGGTGCTGGAGCCCAAGCT	0.716																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NA																	1	Substitution - Missense(1)	p.S136F(1)	central_nervous_system(1)	ovary(1)|central_nervous_system(1)	2						c.(406-408)TCC>TGC		mesenchyme homeobox 2							19.0	23.0	21.0					7																	15725621		2196	4292	6488	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725621G>C		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.407C>G	7.37:g.15725621G>C	ENSP00000262041:p.Ser136Cys					MEOX2_uc011jxw.1_Missense_Mutation_p.S136C	p.S136C	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	688	-			136					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.407C>G	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277444	0.40294	.	.	ENSG00000106511	ENST00000262041	D	0.90444	-2.67	5.43	5.43	0.79202	.	0.278013	0.33916	N	0.004431	T	0.81384	0.4811	N	0.08118	0	0.28375	N	0.919822	B	0.28512	0.214	B	0.25405	0.06	T	0.75150	-0.3419	10	0.42905	T	0.14	-10.4616	15.5886	0.76506	0.0:0.1377:0.8622:0.0	.	136	P50222	MEOX2_HUMAN	C	136	ENSP00000262041:S136C	ENSP00000262041:S136C	S	-	2	0	MEOX2	15692146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.734000	0.55037	2.533000	0.85409	0.655000	0.94253	TCC		0.716	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		8	68	0	0	0	0	8	68				
MACC1	346389	broad.mit.edu	37	7	20198324	20198324	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:20198324C>A	ENST00000400331.5	-	5	1968	c.1660G>T	c.(1660-1662)Ggg>Tgg	p.G554W	MACC1_ENST00000589011.1_Missense_Mutation_p.G554W|MACC1_ENST00000332878.4_Missense_Mutation_p.G554W	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	554	SH3.				positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGGGTTACCCCATAGTTGCTA	0.378																																						uc003sus.3		NA																	0				ovary(2)|skin(1)	3						c.(1660-1662)GGG>TGG		putative binding protein 7a5							96.0	103.0	100.0					7																	20198324		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198324C>A		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1660G>T	7.37:g.20198324C>A	ENSP00000383185:p.Gly554Trp					MACC1_uc010kug.2_Missense_Mutation_p.G554W	p.G554W	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	1969	-			554			SH3.		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1660G>T	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767857	0.49680	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09538	2.97;2.97	5.81	5.81	0.92471	Src homology-3 domain (1);Variant SH3 (1);	0.147781	0.64402	D	0.000010	T	0.36220	0.0959	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02437	-1.1159	10	0.87932	D	0	-6.7764	20.0782	0.97758	0.0:1.0:0.0:0.0	.	554	Q6ZN28	MACC1_HUMAN	W	554	ENSP00000383185:G554W;ENSP00000328410:G554W	ENSP00000328410:G554W	G	-	1	0	MACC1	20164849	1.000000	0.71417	0.929000	0.37066	0.354000	0.29330	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	GGG		0.378	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		6	142	1	0	0.00116845	0.0019806	6	142				
DNAH11	8701	broad.mit.edu	37	7	21779240	21779240	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:21779240C>T	ENST00000409508.3	+	48	7894	c.7863C>T	c.(7861-7863)gtC>gtT	p.V2621V	DNAH11_ENST00000328843.6_Silent_p.V2628V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2628	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCAGTATGTCGCCTGCATGA	0.423									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7882-7884)GTC>GTT		dynein, axonemal, heavy chain 11							128.0	116.0	120.0					7																	21779240		1903	4119	6022	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21779240C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7863C>T	7.37:g.21779240C>T							p.V2628V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			49	7915	+			2628			AAA 3 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.7884C>T																																																																																					0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		13	65	0	0	0	0	13	65				
CPVL	54504	broad.mit.edu	37	7	29111998	29111998	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:29111998G>A	ENST00000409850.1	-	12	1297	c.651C>T	c.(649-651)atC>atT	p.I217I	CPVL_ENST00000265394.5_Silent_p.I217I|CPVL_ENST00000396276.3_Silent_p.I217I			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	217						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGAGGGAATGGATGAGGTGTG	0.433																																						uc003szv.2		NA																	0				ovary(2)	2						c.(649-651)ATC>ATT		serine carboxypeptidase vitellogenic-like							149.0	128.0	135.0					7																	29111998		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29111998G>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.651C>T	7.37:g.29111998G>A						CPVL_uc003szw.2_Silent_p.I217I|CPVL_uc003szx.2_Silent_p.I217I	p.I217I	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			8	770	-			217					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.651C>T	CCDS5419.1																																																																																				0.433	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		13	35	0	0	0	0	13	35				
SCRN1	9805	broad.mit.edu	37	7	29980412	29980412	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:29980412G>C	ENST00000426154.1	-	5	801	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	SCRN1_ENST00000425819.2_Missense_Mutation_p.Q141E|SCRN1_ENST00000434476.2_Missense_Mutation_p.Q229E|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.Q209E|SCRN1_ENST00000409497.1_Missense_Mutation_p.Q209E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	209					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCTTGGCTCTGAGCGTAACTC	0.527																																						uc010kvp.2		NA																	0				ovary(2)	2						c.(625-627)CAG>GAG		secernin 1 isoform c							148.0	149.0	149.0					7																	29980412		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29980412G>C	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.625C>G	7.37:g.29980412G>C	ENSP00000409068:p.Gln209Glu					SCRN1_uc011jzy.1_Missense_Mutation_p.Q141E|SCRN1_uc003tak.2_Missense_Mutation_p.Q209E|SCRN1_uc011jzz.1_Missense_Mutation_p.Q209E|SCRN1_uc011kaa.1_Missense_Mutation_p.Q229E|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.Q32E	p.Q209E	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN			4	829	-			209					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.625C>G	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589336	0.28357	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000544388;ENST00000409497;ENST00000434476;ENST00000421434	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	5.76	4.87	0.63330	.	0.289069	0.30575	N	0.009326	T	0.12902	0.0313	N	0.25789	0.76	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.008;0.008;0.008	T	0.13442	-1.0509	9	.	.	.	-19.3554	7.555	0.27819	0.0:0.1996:0.5471:0.2533	.	229;229;209	C9JPG0;B4DHM0;Q12765	.;.;SCRN1_HUMAN	E	209;209;141;13;209;229;209	ENSP00000242059:Q209E;ENSP00000409068:Q209E;ENSP00000414245:Q141E;ENSP00000386872:Q209E;ENSP00000388942:Q229E;ENSP00000413184:Q209E	.	Q	-	1	0	SCRN1	29946937	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.223000	0.32527	2.721000	0.93114	0.591000	0.81541	CAG		0.527	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		18	162	0	0	0	0	18	162				
KBTBD2	25948	broad.mit.edu	37	7	32908969	32908969	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:32908969T>C	ENST00000304056.4	-	4	2559	c.1860A>G	c.(1858-1860)ctA>ctG	p.L620L	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	620										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATACAGGTGGTAGTGCAACCA	0.423																																						uc003tdb.2		NA																	0					0						c.(1858-1860)CTA>CTG		kelch repeat and BTB (POZ) domain containing 2							93.0	87.0	89.0					7																	32908969		2203	4300	6503	SO:0001819	synonymous_variant	25948							g.chr7:32908969T>C	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1860A>G	7.37:g.32908969T>C						AVL9_uc011kai.1_Intron	p.L620L	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	2519	-			620					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Silent	SNP	ENST00000304056.4	37	c.1860A>G	CCDS34614.1																																																																																				0.423	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		8	58	0	0	0	0	8	58				
ANLN	54443	broad.mit.edu	37	7	36461541	36461541	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:36461541G>C	ENST00000265748.2	+	13	2460	c.2239G>C	c.(2239-2241)Gaa>Caa	p.E747Q	ANLN_ENST00000396068.2_Missense_Mutation_p.E710Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	747	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTGTGTTGATGAAGAACATGG	0.393																																						uc003tff.2		NA																	0				ovary(2)|skin(1)	3						c.(2239-2241)GAA>CAA		anillin, actin binding protein							85.0	84.0	85.0					7																	36461541		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36461541G>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2239G>C	7.37:g.36461541G>C	ENSP00000265748:p.Glu747Gln					ANLN_uc011kaz.1_Missense_Mutation_p.E659Q|ANLN_uc003tfg.2_Missense_Mutation_p.E710Q|ANLN_uc010kxe.2_Missense_Mutation_p.E709Q	p.E747Q	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			13	2443	+			747			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2239G>C	CCDS5447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.934186|4.934186	0.92458|0.92458	.|.	.|.	ENSG00000011426|ENSG00000011426	ENST00000265748;ENST00000396068|ENST00000446635	T;T|.	0.14144|.	2.53;2.58|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.178288|.	0.64402|.	D|.	0.000015|.	T|T	0.71929|0.71929	0.3398|0.3398	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.71674|.	0.996;0.997;0.998;0.997|.	P;D;D;D|.	0.69479|.	0.828;0.921;0.964;0.921|.	T|T	0.66292|0.66292	-0.5960|-0.5960	10|5	0.66056|.	D|.	0.02|.	-13.9197|-13.9197	20.3495|20.3495	0.98807|0.98807	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	624;709;710;747|.	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.	.;.;.;ANLN_HUMAN|.	Q|I	747;710|100	ENSP00000265748:E747Q;ENSP00000379380:E710Q|.	ENSP00000265748:E747Q|.	E|M	+|+	1|3	0|0	ANLN|ANLN	36428066|36428066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.869000|9.869000	0.99810|0.99810	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	GAA|ATG		0.393	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		4	48	0	0	0	0	4	48				
SFRP4	6424	broad.mit.edu	37	7	37955825	37955825	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:37955825G>T	ENST00000436072.2	-	1	692	c.315C>A	c.(313-315)cgC>cgA	p.R105R	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	105	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R105R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGCAGTCGTCGCGCGCGCGTT	0.622																																						uc003tfo.3		NA																	1	Substitution - coding silent(1)		endometrium(1)	lung(1)	1						c.(313-315)CGC>CGA		secreted frizzled-related  protein 4 precursor							57.0	49.0	52.0					7																	37955825		2203	4300	6503	SO:0001819	synonymous_variant	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37955825G>T	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.315C>A	7.37:g.37955825G>T							p.R105R	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			1	701	-			105			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	c.315C>A	CCDS5453.1																																																																																				0.622	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		11	42	1	0	2.81e-09	5.49e-09	11	42				
POM121L12	285877	broad.mit.edu	37	7	53103985	53103985	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:53103985G>T	ENST00000408890.4	+	1	637	c.621G>T	c.(619-621)agG>agT	p.R207S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	207										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGGTGGCAGGCGGAACCTGC	0.667																																						uc003tpz.2		NA																	0					0						c.(619-621)AGG>AGT		POM121 membrane glycoprotein-like 12							46.0	56.0	53.0					7																	53103985		1988	4134	6122	SO:0001583	missense	285877							g.chr7:53103985G>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.621G>T	7.37:g.53103985G>T	ENSP00000386133:p.Arg207Ser						p.R207S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	637	+			207					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.621G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	9.592	1.126422	0.20959	.	.	ENSG00000221900	ENST00000408890	T	0.11277	2.79	1.84	-3.69	0.04450	.	.	.	.	.	T	0.05914	0.0154	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.37776	-0.9691	9	0.62326	D	0.03	.	0.8101	0.01091	0.2757:0.3322:0.2249:0.1672	.	207	Q8N7R1	P1L12_HUMAN	S	207	ENSP00000386133:R207S	ENSP00000386133:R207S	R	+	3	2	POM121L12	53071479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.479000	0.06567	-1.771000	0.01293	-1.366000	0.01203	AGG		0.667	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		17	53	1	0	2.39e-15	5.02e-15	17	53				
ZNF479	90827	broad.mit.edu	37	7	57194383	57194383	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:57194383C>G	ENST00000331162.4	-	3	352	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	28	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)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCCATTCCTCCAGAGAGAAT	0.438																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(82-84)GAG>CAG		zinc finger protein 479							46.0	48.0	47.0					7																	57194383		2168	4275	6443	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194383C>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.82G>C	7.37:g.57194383C>G	ENSP00000333776:p.Glu28Gln						p.E28Q	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	353	-			28			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.82G>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	11.62	1.693094	0.30052	.	.	ENSG00000185177	ENST00000331162	T	0.03524	3.9	1.25	1.25	0.21368	Krueppel-associated box (4);	.	.	.	.	T	0.08537	0.0212	M	0.83774	2.66	0.09310	N	1	P	0.43231	0.801	B	0.43360	0.417	T	0.12993	-1.0526	9	0.72032	D	0.01	.	8.0193	0.30400	0.0:1.0:0.0:0.0	.	28	Q96JC4	ZN479_HUMAN	Q	28	ENSP00000333776:E28Q	ENSP00000333776:E28Q	E	-	1	0	ZNF479	57198325	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	0.259000	0.18405	0.669000	0.31146	0.393000	0.25936	GAG		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		17	64	0	0	0	0	17	64				
CLDN3	1365	broad.mit.edu	37	7	73184251	73184251	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:73184251C>T	ENST00000395145.2	-	1	349	c.129G>A	c.(127-129)caG>caA	p.Q43Q		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	43					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CCCAGATGTTCTGCGACGTGA	0.647																																						uc003tzg.3		NA																	0					0						c.(127-129)CAG>CAA		claudin 3							74.0	63.0	67.0					7																	73184251		2203	4300	6503	SO:0001819	synonymous_variant	1365				response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity	g.chr7:73184251C>T	AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.129G>A	7.37:g.73184251C>T						RFC2_uc011kfa.1_Intron	p.Q43Q	NM_001306	NP_001297	O15551	CLD3_HUMAN			1	350	-		Lung NSC(55;0.159)	43			Extracellular (Potential).			Silent	SNP	ENST00000395145.2	37	c.129G>A	CCDS5559.1																																																																																				0.647	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306		5	49	0	0	0	0	5	49				
HIP1	3092	broad.mit.edu	37	7	75189091	75189091	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:75189091G>A	ENST00000336926.6	-	14	1346	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	HIP1_ENST00000434438.2_Silent_p.L440L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	440	pDED.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGCCTCCTGAGCTCGTCCA	0.697			T	PDGFRB	CMML																																	uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(1318-1320)CTC>CTT		huntingtin interacting protein 1							31.0	33.0	32.0					7																	75189091		2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75189091G>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1320C>T	7.37:g.75189091G>A						HIP1_uc011kfz.1_Silent_p.L317L	p.L440L	NM_005338	NP_005329	O00291	HIP1_HUMAN			14	1361	-			440			Potential.|pDED.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.1320C>T	CCDS34669.1																																																																																				0.697	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		15	72	0	0	0	0	15	72				
MAGI2	9863	broad.mit.edu	37	7	77824251	77824251	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:77824251G>C	ENST00000354212.4	-	12	2462	c.2209C>G	c.(2209-2211)Cca>Gca	p.P737A	MAGI2_ENST00000522391.1_Missense_Mutation_p.P737A|MAGI2_ENST00000419488.1_Missense_Mutation_p.P737A	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	737					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGCTTCCGTGGGTCAAAGGCC	0.488																																						uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2209-2211)CCA>GCA		membrane associated guanylate kinase, WW and PDZ							146.0	147.0	146.0					7																	77824251		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77824251G>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2209C>G	7.37:g.77824251G>C	ENSP00000346151:p.Pro737Ala					MAGI2_uc003ugy.2_Missense_Mutation_p.P737A|MAGI2_uc010ldx.1_Missense_Mutation_p.P346A|MAGI2_uc010ldy.1_Missense_Mutation_p.P346A	p.P737A	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			12	2463	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	737					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2209C>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925458	0.73213	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.09911	3.04;3.05;2.93	5.82	5.82	0.92795	.	0.000000	0.36409	U	0.002612	T	0.13072	0.0317	L	0.34521	1.04	0.80722	D	1	B;B;P;P	0.42871	0.435;0.435;0.792;0.688	B;B;B;B	0.43301	0.115;0.115;0.415;0.237	T	0.08722	-1.0708	10	0.21540	T	0.41	.	20.091	0.97817	0.0:0.0:1.0:0.0	.	737;737;737;737	B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	A	737	ENSP00000405766:P737A;ENSP00000346151:P737A;ENSP00000428389:P737A	ENSP00000346151:P737A	P	-	1	0	MAGI2	77662187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.755000	0.94549	0.591000	0.81541	CCA		0.488	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		11	59	0	0	0	0	11	59				
SEMA3C	10512	broad.mit.edu	37	7	80394477	80394477	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:80394477G>C	ENST00000265361.3	-	13	1998	c.1437C>G	c.(1435-1437)gtC>gtG	p.V479V	SEMA3C_ENST00000544525.1_Silent_p.V497V|SEMA3C_ENST00000419255.2_Silent_p.V479V	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	479	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAACCTTAAAGACTTCCAGCT	0.378																																						uc003uhj.2		NA																	0				ovary(1)	1						c.(1435-1437)GTC>GTG		semaphorin 3C precursor							72.0	71.0	71.0					7																	80394477		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80394477G>C	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1437C>G	7.37:g.80394477G>C						SEMA3C_uc011kgw.1_Silent_p.V497V	p.V479V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			13	1999	-			479			Sema.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.1437C>G	CCDS5596.1																																																																																				0.378	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		4	70	0	0	0	0	4	70				
PCLO	27445	broad.mit.edu	37	7	82581261	82581261	+	Missense_Mutation	SNP	C	C	T	rs201925292	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:82581261C>T	ENST00000333891.9	-	5	9345	c.9008G>A	c.(9007-9009)gGa>gAa	p.G3003E	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.G3003E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAAAAATGTCCAGCTTCTGC	0.408																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(9007-9009)GGA>GAA		piccolo isoform 1							144.0	139.0	141.0					7																	82581261		1843	4093	5936	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581261C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9008G>A	7.37:g.82581261C>T	ENSP00000334319:p.Gly3003Glu					PCLO_uc003uhv.2_Missense_Mutation_p.G3003E|PCLO_uc010lec.2_5'Flank	p.G3003E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	9297	-			2934						Missense_Mutation	SNP	ENST00000333891.9	37	c.9008G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782637	0.31502	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.27890	1.64;1.64	5.73	5.73	0.89815	.	.	.	.	.	T	0.57184	0.2036	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.57757	-0.7756	9	0.87932	D	0	.	19.9041	0.97001	0.0:1.0:0.0:0.0	.	3003;3003	Q9Y6V0-5;Q9Y6V0-6	.;.	E	2934;3003;3003	ENSP00000334319:G3003E;ENSP00000388393:G3003E	ENSP00000334319:G3003E	G	-	2	0	PCLO	82419197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.698000	0.92095	0.557000	0.71058	GGA		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	253	0	0	0	0	13	253				
ABCB1	5243	broad.mit.edu	37	7	87148655	87148655	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:87148655C>G	ENST00000265724.3	-	24	3331	c.2914G>C	c.(2914-2916)Gag>Cag	p.E972Q	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.E908Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	972	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGAACATCCTCAAAGCTCATG	0.393																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2914-2916)GAG>CAG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						91.0	83.0	86.0					7																	87148655		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148655C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2914G>C	7.37:g.87148655C>G	ENSP00000265724:p.Glu972Gln					ABCB1_uc011khc.1_Missense_Mutation_p.E908Q	p.E972Q	NM_000927	NP_000918	P08183	MDR1_HUMAN			24	3332	-	Esophageal squamous(14;0.00164)		972			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2914G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406822	0.11754	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91740	-2.9;-2.9	5.79	0.617	0.17619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.294250	0.04526	N	0.385515	D	0.86900	0.6044	N	0.21194	0.64	0.39597	D	0.969674	B;B	0.09022	0.002;0.0	B;B	0.16722	0.016;0.005	T	0.63708	-0.6576	10	0.16420	T	0.52	-7.7882	13.6528	0.62320	0.0:0.4756:0.4236:0.1008	.	908;972	B5AK60;P08183	.;MDR1_HUMAN	Q	753;972;908	ENSP00000265724:E972Q;ENSP00000444095:E908Q	ENSP00000265724:E972Q	E	-	1	0	ABCB1	86986591	0.000000	0.05858	0.269000	0.24586	0.642000	0.38348	0.098000	0.15189	-0.173000	0.10761	0.561000	0.74099	GAG		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		7	72	0	0	0	0	7	72				
ZNF804B	219578	broad.mit.edu	37	7	88965082	88965082	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:88965082T>C	ENST00000333190.4	+	4	3395	c.2786T>C	c.(2785-2787)tTa>tCa	p.L929S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	929							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATCCTTTTAGAAAGAGTA	0.418										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2785-2787)TTA>TCA		zinc finger protein 804B							110.0	117.0	115.0					7																	88965082		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965082T>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2786T>C	7.37:g.88965082T>C	ENSP00000329638:p.Leu929Ser	HNSCC(36;0.09)					p.L929S	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3324	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		929					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2786T>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713747	0.68730	.	.	ENSG00000182348	ENST00000333190	T	0.12774	2.65	5.34	5.34	0.76211	.	0.000000	0.50627	D	0.000102	T	0.28863	0.0716	L	0.36672	1.1	0.38558	D	0.949633	D	0.89917	1.0	D	0.91635	0.999	T	0.05784	-1.0864	10	0.87932	D	0	-12.7962	15.4877	0.75578	0.0:0.0:0.0:1.0	.	929	A4D1E1	Z804B_HUMAN	S	929	ENSP00000329638:L929S	ENSP00000329638:L929S	L	+	2	0	ZNF804B	88803018	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.724000	0.61972	2.248000	0.74166	0.533000	0.62120	TTA		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		39	245	0	0	0	0	39	245				
ZNF804B	219578	broad.mit.edu	37	7	88965672	88965672	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:88965672G>C	ENST00000333190.4	+	4	3985	c.3376G>C	c.(3376-3378)Gac>Cac	p.D1126H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1126							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCAGAAACCTGACAAAGTCGA	0.338										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3376-3378)GAC>CAC		zinc finger protein 804B							55.0	56.0	56.0					7																	88965672		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965672G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3376G>C	7.37:g.88965672G>C	ENSP00000329638:p.Asp1126His	HNSCC(36;0.09)					p.D1126H	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3914	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1126					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3376G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258916	0.23051	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	4.61	4.61	0.57282	.	0.194032	0.36778	N	0.002403	T	0.10637	0.0260	L	0.32530	0.975	0.29083	N	0.882591	D	0.76494	0.999	D	0.64042	0.921	T	0.10337	-1.0634	10	0.27785	T	0.31	-18.5215	6.3553	0.21398	0.1322:0.0:0.7008:0.167	.	1126	A4D1E1	Z804B_HUMAN	H	1126	ENSP00000329638:D1126H	ENSP00000329638:D1126H	D	+	1	0	ZNF804B	88803608	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	3.072000	0.50049	2.549000	0.85964	0.655000	0.94253	GAC		0.338	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		7	82	0	0	0	0	7	82				
GTPBP10	85865	broad.mit.edu	37	7	89982159	89982159	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:89982159C>G	ENST00000222511.6	+	2	129	c.63C>G	c.(61-63)ctC>ctG	p.L21L	GTPBP10_ENST00000257659.8_Silent_p.L21L	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	21					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGCTAAGACTCTTCACCAGGG	0.393											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003ukm.1		NA																	0					0						c.(61-63)CTC>CTG		GTP-binding protein 10 isoform 2							139.0	136.0	137.0					7																	89982159		2203	4300	6503	SO:0001819	synonymous_variant	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89982159C>G		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.63C>G	7.37:g.89982159C>G			OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1271	GTPBP10_uc003uki.1_Silent_p.L38L|GTPBP10_uc003ukj.1_Silent_p.L12L|GTPBP10_uc003ukk.1_RNA|GTPBP10_uc003ukl.1_RNA|GTPBP10_uc003ukn.1_Silent_p.L21L|GTPBP10_uc003uko.1_5'UTR	p.L21L	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN			2	129	+			21					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Silent	SNP	ENST00000222511.6	37	c.63C>G	CCDS5617.1																																																																																				0.393	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		6	63	0	0	0	0	6	63				
GATAD1	57798	broad.mit.edu	37	7	92085756	92085756	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:92085756C>G	ENST00000287957.3	+	5	967	c.690C>G	c.(688-690)ttC>ttG	p.F230L	AC007566.10_ENST00000427458.1_RNA	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	230						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAGTATTTCAAGTCACGGT	0.453																																						uc003ulx.1		NA																	0					0						c.(688-690)TTC>TTG		GATA zinc finger domain containing 1							180.0	161.0	168.0					7																	92085756		2203	4300	6503	SO:0001583	missense	57798						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:92085756C>G		CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"""GATA zinc finger domain containing"""	29941	protein-coding gene	gene with protein product	"""ocular development associated gene"""	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.690C>G	7.37:g.92085756C>G	ENSP00000287957:p.Phe230Leu					GATAD1_uc011khq.1_RNA	p.F230L	NM_021167	NP_066990	Q8WUU5	GATD1_HUMAN	STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	969	+	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		230					B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	ENST00000287957.3	37	c.690C>G	CCDS5625.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619848	0.87460	.	.	ENSG00000157259	ENST00000287957	T	0.62941	-0.01	5.49	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	M	0.65975	2.015	0.58432	D	0.999999	B	0.25521	0.128	B	0.24848	0.056	T	0.57335	-0.7829	10	0.72032	D	0.01	-9.9701	8.0941	0.30818	0.1293:0.734:0.0:0.1367	.	230	Q8WUU5	GATD1_HUMAN	L	230	ENSP00000287957:F230L	ENSP00000287957:F230L	F	+	3	2	GATAD1	91923692	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.867000	0.27968	0.704000	0.31869	0.579000	0.79373	TTC		0.453	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167		9	150	0	0	0	0	9	150				
COL1A2	1278	broad.mit.edu	37	7	94052383	94052383	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:94052383C>A	ENST00000297268.6	+	40	2989	c.2518C>A	c.(2518-2520)Cct>Act	p.P840T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	840			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		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)	AGTTGGTCCCCCTGGCTTCGC	0.527										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2518-2520)CCT>ACT		alpha 2 type I collagen precursor	Collagenase(DB00048)						138.0	129.0	132.0					7																	94052383		2203	4300	6503	SO:0001583	missense	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.chr7:94052383C>A	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.2518C>A	7.37:g.94052383C>A	ENSP00000297268:p.Pro840Thr	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.P840T	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2989	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		840		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2518C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701627	0.68501	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96856	-4.15	5.23	4.32	0.51571	.	0.331558	0.32884	N	0.005532	D	0.94208	0.8141	L	0.52759	1.655	0.37925	D	0.931823	B	0.06786	0.001	B	0.06405	0.002	D	0.92564	0.6060	10	0.52906	T	0.07	.	15.2466	0.73509	0.1417:0.8583:0.0:0.0	.	840	P08123	CO1A2_HUMAN	T	840;841	ENSP00000297268:P840T	ENSP00000297268:P840T	P	+	1	0	COL1A2	93890319	0.742000	0.28228	0.979000	0.43373	0.857000	0.48899	1.219000	0.32479	1.304000	0.44892	0.563000	0.77884	CCT		0.527	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		72	105	1	0	1.03e-28	2.23e-28	72	105				
ASB4	51666	broad.mit.edu	37	7	95157454	95157454	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:95157454G>C	ENST00000325885.5	+	3	888	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	ASB4_ENST00000428113.1_Missense_Mutation_p.E273Q	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	273					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CATGATGCTGGAAGCTGGCGC	0.562											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kij.1		NA																	0				central_nervous_system(1)	1						c.(817-819)GAA>CAA		ankyrin repeat and SOCS box-containing protein 4							81.0	63.0	69.0					7																	95157454		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157454G>C	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.817G>C	7.37:g.95157454G>C	ENSP00000321388:p.Glu273Gln		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_uc003unx.2_Missense_Mutation_p.E273Q	p.E273Q	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	817	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		273			ANK 6.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.817G>C	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684667	0.68157	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.68181	-0.31;-0.31	4.94	4.94	0.65067	Ankyrin repeat-containing domain (3);	0.051136	0.85682	D	0.000000	T	0.77377	0.4121	L	0.48260	1.515	0.80722	D	1	B;D	0.89917	0.23;1.0	B;D	0.77557	0.119;0.99	T	0.74847	-0.3525	10	0.36615	T	0.2	-8.5562	19.0642	0.93103	0.0:0.0:1.0:0.0	.	273;273	Q9Y574;Q14D68	ASB4_HUMAN;.	Q	273	ENSP00000321388:E273Q;ENSP00000397070:E273Q	ENSP00000321388:E273Q	E	+	1	0	ASB4	94995390	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.442000	0.73443	2.689000	0.91719	0.462000	0.41574	GAA		0.562	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		40	60	0	0	0	0	40	60				
SHFM1	7979	broad.mit.edu	37	7	96318251	96318251	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:96318251C>G	ENST00000248566.2	-	3	325	c.198G>C	c.(196-198)aaG>aaC	p.K66N	SHFM1_ENST00000413065.1_Intron|SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000417009.1_Intron	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	66					double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)				breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					AAGTCTCCATCTTATAACCAT	0.333								Homologous recombination																														uc003uoi.2		NA																	0					0						c.(196-198)AAG>AAC	Direct_reversal_of_damage|Homologous_recombination	split hand/foot malformation type 1							112.0	103.0	106.0					7																	96318251		2203	4300	6503	SO:0001583	missense	7979				proteolysis	proteasome complex	peptidase activity|protein binding	g.chr7:96318251C>G	U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.198G>C	7.37:g.96318251C>G	ENSP00000248566:p.Lys66Asn					SHFM1_uc010lfn.1_Intron	p.K66N	NM_006304	NP_006295	P60896	DSS1_HUMAN			3	326	-	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)		66					Q13437|Q61067	Missense_Mutation	SNP	ENST00000248566.2	37	c.198G>C	CCDS5646.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215578	0.39102	.	.	ENSG00000127922	ENST00000248566	T	0.47528	0.84	5.15	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	.	.	.	0.80722	D	1	P	0.39094	0.659	P	0.55391	0.775	T	0.62676	-0.6804	9	0.72032	D	0.01	.	9.8536	0.41073	0.0:0.7603:0.0:0.2397	.	66	P60896	DSS1_HUMAN	N	66	ENSP00000248566:K66N	ENSP00000248566:K66N	K	-	3	2	SHFM1	96156187	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.394000	0.44450	0.782000	0.33613	0.655000	0.94253	AAG		0.333	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304		6	74	0	0	0	0	6	74				
TECPR1	25851	broad.mit.edu	37	7	97851742	97851742	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:97851742C>G	ENST00000447648.2	-	22	3319	c.3020G>C	c.(3019-3021)gGc>gCc	p.G1007A	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Missense_Mutation_p.G1009A			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1007					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGCGGAGCCGTCCCTTGC	0.677																																						uc003upg.2		NA																	0				pancreas(1)	1						c.(3019-3021)GGC>GCC		tectonin beta-propeller repeat containing 1							20.0	27.0	25.0					7																	97851742		2066	4197	6263	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97851742C>G		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3020G>C	7.37:g.97851742C>G	ENSP00000404923:p.Gly1007Ala						p.G1007A	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN			22	3225	-			1007			TECPR 7.		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.3020G>C	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266564	0.80358	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	D;D	0.87729	-2.29;-2.29	4.7	4.7	0.59300	.	0.056140	0.64402	D	0.000001	D	0.92890	0.7738	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.93685	0.7002	10	0.72032	D	0.01	-42.6307	16.8055	0.85626	0.0:1.0:0.0:0.0	.	1007	Q7Z6L1	TCPR1_HUMAN	A	1007;1009	ENSP00000404923:G1007A;ENSP00000369121:G1009A	ENSP00000369121:G1009A	G	-	2	0	TECPR1	97689678	1.000000	0.71417	0.990000	0.47175	0.393000	0.30537	7.651000	0.83577	2.443000	0.82685	0.655000	0.94253	GGC		0.677	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		3	9	0	0	0	0	3	9				
ZNF394	84124	broad.mit.edu	37	7	99092065	99092065	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:99092065G>A	ENST00000337673.6	-	3	976	c.773C>T	c.(772-774)tCt>tTt	p.S258F	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	258					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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGCTTCAGGAGAATTTTCAAG	0.483																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NA																	0					0						c.(772-774)TCT>TTT		zinc finger protein 394							121.0	119.0	120.0					7																	99092065		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99092065G>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.773C>T	7.37:g.99092065G>A	ENSP00000337363:p.Ser258Phe					ZNF394_uc003uqt.2_Missense_Mutation_p.S51F	p.S258F	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			3	934	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		258					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.773C>T	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326819	0.60743	.	.	ENSG00000160908	ENST00000337673	T	0.05513	3.43	4.09	2.2	0.27929	.	0.298624	0.24676	N	0.036511	T	0.03263	0.0095	N	0.08118	0	0.80722	D	1	B	0.22414	0.069	B	0.19946	0.027	T	0.47459	-0.9116	10	0.48119	T	0.1	.	7.3546	0.26711	0.0984:0.1722:0.7295:0.0	.	258	Q53GI3	ZN394_HUMAN	F	258	ENSP00000337363:S258F	ENSP00000337363:S258F	S	-	2	0	ZNF394	98930001	0.000000	0.05858	0.534000	0.28014	0.898000	0.52572	-0.394000	0.07296	0.625000	0.30304	0.655000	0.94253	TCT		0.483	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		9	146	0	0	0	0	9	146				
STAG3	10734	broad.mit.edu	37	7	99779813	99779813	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:99779813C>A	ENST00000426455.1	+	3	624	c.217C>A	c.(217-219)Ccg>Acg	p.P73T	STAG3_ENST00000394018.2_Missense_Mutation_p.P73T|STAG3_ENST00000317296.5_Missense_Mutation_p.P73T	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	73					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAAACAACACCGGTGAGTCA	0.502																																						uc003utx.1		NA																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(217-219)CCG>ACG		stromal antigen 3							82.0	74.0	76.0					7																	99779813		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99779813C>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.217C>A	7.37:g.99779813C>A	ENSP00000400359:p.Pro73Thr					STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.P73T	p.P73T	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			3	372	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		73					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.217C>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607545	0.28623	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.37235	1.89;1.21;1.89	4.6	3.69	0.42338	.	0.688231	0.12643	N	0.451089	T	0.41190	0.1148	M	0.76574	2.34	0.31315	N	0.686701	P;B	0.46987	0.888;0.002	B;B	0.43889	0.435;0.01	T	0.46062	-0.9218	10	0.29301	T	0.29	-4.4082	10.5519	0.45095	0.0:0.8036:0.1964:0.0	.	73;73	B4DZ10;Q9UJ98	.;STAG3_HUMAN	T	73	ENSP00000400359:P73T;ENSP00000377586:P73T;ENSP00000319318:P73T	ENSP00000319318:P73T	P	+	1	0	STAG3	99617749	0.942000	0.31987	0.768000	0.31515	0.552000	0.35366	1.963000	0.40452	1.241000	0.43820	0.484000	0.47621	CCG		0.502	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		10	33	1	0	0.000442599	0.000761358	10	33				
LRCH4	4034	broad.mit.edu	37	7	100175789	100175789	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100175789C>G	ENST00000310300.6	-	7	993	c.941G>C	c.(940-942)gGa>gCa	p.G314A	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	314					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACCTCATTTCCAGACCACCT	0.592																																						uc003uvj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(940-942)GGA>GCA		leucine-rich repeats and calponin homology (CH)							147.0	109.0	122.0					7																	100175789		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100175789C>G	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.941G>C	7.37:g.100175789C>G	ENSP00000309689:p.Gly314Ala					LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA	p.G314A	NM_002319	NP_002310	O75427	LRCH4_HUMAN			7	994	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		314					A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.941G>C	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.295494	0.60086	.	.	ENSG00000077454	ENST00000310300	T	0.33216	1.42	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.10222	-1.0639	10	0.14252	T	0.57	-9.2553	16.8566	0.86007	0.0:1.0:0.0:0.0	.	314	O75427	LRCH4_HUMAN	A	314	ENSP00000309689:G314A	ENSP00000309689:G314A	G	-	2	0	LRCH4	100013725	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.477000	0.81069	2.589000	0.87451	0.538000	0.68166	GGA		0.592	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		21	35	0	0	0	0	21	35				
GNB2	2783	broad.mit.edu	37	7	100276365	100276365	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100276365G>A	ENST00000303210.4	+	10	1446	c.964G>A	c.(964-966)Gac>Aac	p.D322N	GNB2_ENST00000427895.1_Missense_Mutation_p.D222N|GNB2_ENST00000436220.1_Missense_Mutation_p.D278N|GNB2_ENST00000393926.1_Missense_Mutation_p.D322N|GNB2_ENST00000419828.1_Missense_Mutation_p.D222N|GNB2_ENST00000424361.1_Missense_Mutation_p.D278N|GNB2_ENST00000393924.1_Missense_Mutation_p.D322N	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	322					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CGGGGTCACCGACGATGGCAT	0.657																																						uc003uwb.2		NA																	0				ovary(2)	2						c.(964-966)GAC>AAC		guanine nucleotide-binding protein, beta-2							60.0	63.0	62.0					7																	100276365		2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276365G>A	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.964G>A	7.37:g.100276365G>A	ENSP00000305260:p.Asp322Asn					GNB2_uc003uwc.2_Missense_Mutation_p.D278N|GNB2_uc010lhd.2_Missense_Mutation_p.D278N|GNB2_uc010lhe.2_Missense_Mutation_p.D278N|GNB2_uc003uwd.2_Missense_Mutation_p.D222N|GNB2_uc010lhf.2_Missense_Mutation_p.D222N|GNB2_uc003uwe.2_Missense_Mutation_p.D322N|GNB2_uc003uwf.2_Missense_Mutation_p.D222N	p.D322N	NM_005273	NP_005264	P62879	GBB2_HUMAN			10	1237	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	322			WD 7.		B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.964G>A	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	10.23	1.292244	0.23564	.	.	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.21	5.21	0.72293	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	0.45034	0.1322	N	0.20357	0.565	0.46798	D	0.999204	B	0.30114	0.269	B	0.32624	0.149	T	0.34054	-0.9844	10	0.27082	T	0.32	-12.9148	16.3616	0.83270	0.0:0.0:1.0:0.0	.	322	P62879	GBB2_HUMAN	N	322;278;278;222;222;322;322	ENSP00000305260:D322N;ENSP00000401873:D278N;ENSP00000389391:D278N;ENSP00000390543:D222N;ENSP00000400286:D222N;ENSP00000377503:D322N;ENSP00000377501:D322N	ENSP00000305260:D322N	D	+	1	0	GNB2	100114301	0.927000	0.31430	0.994000	0.49952	0.841000	0.47740	4.387000	0.59626	2.729000	0.93468	0.555000	0.69702	GAC		0.657	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		9	91	0	0	0	0	9	91				
MUC17	140453	broad.mit.edu	37	7	100685079	100685079	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:100685079C>G	ENST00000306151.4	+	3	10446	c.10382C>G	c.(10381-10383)tCa>tGa	p.S3461*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3461	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCATTATCAATTATGCCT	0.502																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10381-10383)TCA>TGA		mucin 17 precursor							240.0	252.0	248.0					7																	100685079		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685079C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10382C>G	7.37:g.100685079C>G	ENSP00000302716:p.Ser3461*					MUC17_uc010lho.1_RNA	p.S3461*	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10435	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3461			Extracellular (Potential).|Ser-rich.|56.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.10382C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	49	15.329846	0.99830	.	.	ENSG00000169876	ENST00000306151	.	.	.	0.552	-0.638	0.11500	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	4.4282	0.11515	0.0:0.6805:0.0:0.3195	.	.	.	.	X	3461	.	ENSP00000302716:S3461X	S	+	2	0	MUC17	100471799	0.073000	0.21202	0.001000	0.08648	0.002000	0.02628	2.946000	0.49050	-0.324000	0.08589	0.186000	0.17326	TCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		156	439	0	0	0	0	156	439				
CUX1	1523	broad.mit.edu	37	7	101843412	101843412	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:101843412C>G	ENST00000292535.7	+	17	2060	c.2022C>G	c.(2020-2022)atC>atG	p.I674M	CUX1_ENST00000546411.2_Missense_Mutation_p.I572M|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.I685M|CUX1_ENST00000549414.2_Missense_Mutation_p.I652M|CUX1_ENST00000547394.2_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	674					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAAGTCCATCCTAGAGCAAG	0.483																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2020-2022)ATC>ATG		cut-like homeobox 1 isoform a							120.0	120.0	120.0					7																	101843412		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101843412C>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2022C>G	7.37:g.101843412C>G	ENSP00000292535:p.Ile674Met					CUX1_uc003uys.3_Missense_Mutation_p.I685M|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.I674M	NM_181552	NP_853530	P39880	CUX1_HUMAN			17	2060	+			674			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2022C>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420803	0.62622	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000546411	T;T;T;T	0.73363	-0.71;-0.69;-0.57;-0.74	5.77	2.85	0.33270	.	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.82184	-0.0583	10	0.72032	D	0.01	-22.8648	5.8186	0.18514	0.1437:0.5935:0.0:0.2628	.	674;685	P39880;P39880-3	CUX1_HUMAN;.	M	685;674;652;572	ENSP00000353401:I685M;ENSP00000292535:I674M;ENSP00000446630:I652M;ENSP00000450125:I572M	ENSP00000292535:I674M	I	+	3	3	CUX1	101630132	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	0.610000	0.24253	1.447000	0.47661	0.561000	0.74099	ATC		0.483	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		8	90	0	0	0	0	8	90				
RELN	5649	broad.mit.edu	37	7	103138678	103138678	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:103138678C>G	ENST00000428762.1	-	54	8848	c.8689G>C	c.(8689-8691)Gac>Cac	p.D2897H	RELN_ENST00000343529.5_Missense_Mutation_p.D2897H|RELN_ENST00000424685.2_Missense_Mutation_p.D2897H|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2897					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTTCACTGTCAAAGCGTTCC	0.373																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8689-8691)GAC>CAC		reelin isoform a							103.0	90.0	94.0					7																	103138678		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138678C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8689G>C	7.37:g.103138678C>G	ENSP00000392423:p.Asp2897His					RELN_uc010liz.2_Missense_Mutation_p.D2897H	p.D2897H	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	54	8849	-			2897					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8689G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808628	0.90707	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24538	1.85;1.85;1.85	5.89	5.89	0.94794	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.38531	1.155	0.80722	D	1	P;B	0.36027	0.533;0.402	B;B	0.40782	0.34;0.235	T	0.03344	-1.1046	10	0.72032	D	0.01	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	2897;2897	P78509-2;P78509	.;RELN_HUMAN	H	2897;2897;2897;414;2897	ENSP00000392423:D2897H;ENSP00000345694:D2897H;ENSP00000388446:D2897H	ENSP00000345694:D2897H	D	-	1	0	RELN	102925914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.280000	0.78610	2.793000	0.96121	0.655000	0.94253	GAC		0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	71	0	0	0	0	6	71				
PIK3CG	5294	broad.mit.edu	37	7	106509407	106509407	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:106509407G>T	ENST00000359195.3	+	2	1711	c.1401G>T	c.(1399-1401)ctG>ctT	p.L467L	PIK3CG_ENST00000440650.2_Silent_p.L467L|PIK3CG_ENST00000496166.1_Silent_p.L467L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	467	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGAACCTGCTGCTGATAGACC	0.532																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1399-1401)CTG>CTT		phosphoinositide-3-kinase, catalytic, gamma							100.0	98.0	98.0					7																	106509407		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509407G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1401G>T	7.37:g.106509407G>T						PIK3CG_uc003vdu.2_Silent_p.L467L|PIK3CG_uc003vdw.2_Silent_p.L467L	p.L467L	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1486	+			467					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.1401G>T	CCDS5739.1																																																																																				0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			32	62	1	0	5.67e-07	1.07e-06	32	62				
SLC26A4	5172	broad.mit.edu	37	7	107340590	107340590	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:107340590C>T	ENST00000265715.3	+	15	1901	c.1677C>T	c.(1675-1677)gtC>gtT	p.V559V	SLC26A4_ENST00000544569.1_Silent_p.V146V|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Silent_p.V120V|SLC26A4_ENST00000543100.1_Silent_p.V128V	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	559	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	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)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATGGCAATGTCGATGGTTTTA	0.308									Pendred syndrome																													uc003vep.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1675-1677)GTC>GTT		pendrin							115.0	119.0	117.0					7																	107340590		2202	4299	6501	SO:0001819	synonymous_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107340590C>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1677C>T	7.37:g.107340590C>T						SLC26A4_uc011kmb.1_Silent_p.V146V|SLC26A4_uc011kmc.1_Silent_p.V120V|SLC26A4_uc011kmd.1_Silent_p.V128V	p.V559V	NM_000441	NP_000432	O43511	S26A4_HUMAN			15	1901	+			559			STAS.|Cytoplasmic (Potential).		B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	c.1677C>T	CCDS5746.1																																																																																				0.308	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		14	27	0	0	0	0	14	27				
CHRM2	1129	broad.mit.edu	37	7	136699801	136699801	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:136699801C>G	ENST00000445907.2	+	3	717	c.189C>G	c.(187-189)ttC>ttG	p.F63L	hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.F63L|CHRM2_ENST00000402486.3_Missense_Mutation_p.F63L|CHRM2_ENST00000397608.3_Missense_Mutation_p.F63L|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.F63L|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.F63L	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	63					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACTTTTTATTCAGCTTGGCCT	0.468																																						uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(187-189)TTC>TTG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						212.0	180.0	191.0					7																	136699801		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699801C>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.189C>G	7.37:g.136699801C>G	ENSP00000399745:p.Phe63Leu					CHRM2_uc003vtg.1_Missense_Mutation_p.F63L|CHRM2_uc003vtj.1_Missense_Mutation_p.F63L|CHRM2_uc003vtk.1_Missense_Mutation_p.F63L|CHRM2_uc003vtl.1_Missense_Mutation_p.F63L|CHRM2_uc003vtm.1_Missense_Mutation_p.F63L|CHRM2_uc003vti.1_Missense_Mutation_p.F63L|CHRM2_uc003vto.1_Missense_Mutation_p.F63L|CHRM2_uc003vtn.1_Missense_Mutation_p.F63L|uc003vtp.1_Intron	p.F63L	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	812	+			63			Helical; Name=2; (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.189C>G	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	5.045	0.193911	0.09599	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.28344	0.845	0.80722	D	1	B	0.22080	0.064	B	0.29663	0.105	T	0.52056	-0.8626	10	0.07990	T	0.79	-14.122	19.2407	0.93881	0.0:1.0:0.0:0.0	.	63	P08172	ACM2_HUMAN	L	63	ENSP00000399745:F63L;ENSP00000415386:F63L;ENSP00000319984:F63L;ENSP00000380733:F63L;ENSP00000384937:F63L;ENSP00000384401:F63L	ENSP00000319984:F63L	F	+	3	2	CHRM2	136350341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.778000	0.55371	2.546000	0.85860	0.644000	0.83932	TTC		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			12	122	0	0	0	0	12	122				
BRAF	673	broad.mit.edu	37	7	140449137	140449137	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:140449137C>G	ENST00000288602.6	-	16	2002	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	648	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTCATCAATTCATACAGAACA	0.363		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	0				thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1942-1944)GAA>CAA		B-Raf	Sorafenib(DB00398)						106.0	108.0	107.0					7																	140449137		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140449137C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1942G>C	7.37:g.140449137C>G	ENSP00000288602:p.Glu648Gln						p.E648Q	NM_004333	NP_004324	P15056	BRAF_HUMAN			16	2003	-	Melanoma(164;0.00956)		648			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1942G>C	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.948704|4.948704	0.92660|0.92660	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.94613|.	-3.47|.	5.02|5.02	5.02|5.02	0.67125|0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78547|0.78547	0.4300|0.4300	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.79692|0.79692	-0.1697|-0.1697	10|5	0.87932|.	D|.	0|.	.|.	18.7092|18.7092	0.91649|0.91649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	648|.	P15056|.	BRAF_HUMAN|.	Q|I	648|255	ENSP00000288602:E648Q|.	ENSP00000288602:E648Q|.	E|M	-|-	1|3	0|0	BRAF|BRAF	140095606|140095606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.776000|7.776000	0.85560|0.85560	2.502000|2.502000	0.84385|0.84385	0.462000|0.462000	0.41574|0.41574	GAA|ATG		0.363	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	38	0	0	0	0	8	38				
AGK	55750	broad.mit.edu	37	7	141315363	141315363	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141315363C>A	ENST00000355413.4	+	8	776	c.516C>A	c.(514-516)gtC>gtA	p.V172V	AGK_ENST00000473247.1_Silent_p.V144V|AGK_ENST00000535825.1_Silent_p.V169V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	172	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAAACAAAGTCCAGTAGGTTG	0.438																																						uc003vwi.2		NA																	0				ovary(1)|breast(1)	2						c.(514-516)GTC>GTA		acylglycerol kinase precursor							147.0	145.0	145.0					7																	141315363		2203	4300	6503	SO:0001819	synonymous_variant	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315363C>A	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.516C>A	7.37:g.141315363C>A						AGK_uc011krg.1_RNA	p.V172V	NM_018238	NP_060708	Q53H12	AGK_HUMAN			8	687	+	Melanoma(164;0.0171)		172			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	c.516C>A	CCDS5865.1																																																																																				0.438	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		18	153	1	0	5.01e-05	8.9e-05	18	153				
TAS2R38	5726	broad.mit.edu	37	7	141673226	141673226	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141673226C>T	ENST00000547270.1	-	1	347	c.264G>A	c.(262-264)ctG>ctA	p.L88L		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	88					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCTGTGGTTCAGTGGTTCAC	0.527																																						uc003vwx.1		NA																	0				kidney(1)|skin(1)	2						c.(262-264)CTG>CTA		taste receptor, type 2, member 38							142.0	138.0	139.0					7																	141673226		2203	4300	6503	SO:0001819	synonymous_variant	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673226C>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.264G>A	7.37:g.141673226C>T							p.L88L	NM_176817	NP_789787	P59533	T2R38_HUMAN			1	348	-	Melanoma(164;0.0171)		88			Extracellular (Potential).		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	ENST00000547270.1	37	c.264G>A	CCDS34765.1																																																																																				0.527	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		12	140	0	0	0	0	12	140				
MGAM	8972	broad.mit.edu	37	7	141736654	141736654	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:141736654C>T	ENST00000549489.2	+	18	2203	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	MGAM_ENST00000475668.2_Missense_Mutation_p.S703F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	703	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGCTGACTCCCTGCTGTTG	0.532																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(2107-2109)TCC>TTC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						163.0	171.0	169.0					7																	141736654		2150	4250	6400	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736654C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2108C>T	7.37:g.141736654C>T	ENSP00000447378:p.Ser703Phe						p.S703F	NM_004668	NP_004659	O43451	MGA_HUMAN			18	2162	+	Melanoma(164;0.0272)		703			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2108C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231235	0.58777	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.89875	-2.58	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000059	D	0.95956	0.8683	M	0.93507	3.425	0.50313	D	0.999866	D	0.89917	1.0	D	0.81914	0.995	D	0.95133	0.8257	10	0.35671	T	0.21	.	18.8472	0.92212	0.0:1.0:0.0:0.0	.	703	O43451	MGA_HUMAN	F	703;703;580	ENSP00000447378:S703F	ENSP00000316431:S580F	S	+	2	0	MGAM	141383123	1.000000	0.71417	0.123000	0.21794	0.140000	0.21249	7.818000	0.86416	2.763000	0.94921	0.650000	0.86243	TCC		0.532	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			15	217	0	0	0	0	15	217				
OR6B1	135946	broad.mit.edu	37	7	143701434	143701434	+	Silent	SNP	G	G	C	rs373453496		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:143701434G>C	ENST00000408922.2	+	1	413	c.345G>C	c.(343-345)ctG>ctC	p.L115L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GTGTGCTTCTGGCCGCCATGG	0.498																																						uc003wdt.1		NA																	0				ovary(1)	1						c.(343-345)CTG>CTC		olfactory receptor, family 6, subfamily B,							116.0	118.0	118.0					7																	143701434		2161	4286	6447	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701434G>C		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.345G>C	7.37:g.143701434G>C							p.L115L	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	345	+	Melanoma(164;0.0783)		115			Helical; Name=3; (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.345G>C	CCDS43667.1																																																																																				0.498	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			29	58	0	0	0	0	29	58				
ARHGEF5	7984	broad.mit.edu	37	7	144060360	144060360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr7:144060360G>T	ENST00000056217.5	+	2	772	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	200					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGAAGGCTCTGAAAGTGGGAC	0.522																																						uc003wel.2		NA																	0				skin(2)	2						c.(598-600)GAA>TAA		rho guanine nucleotide exchange factor 5							181.0	196.0	191.0					7																	144060360		2182	4275	6457	SO:0001587	stop_gained	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060360G>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.598G>T	7.37:g.144060360G>T	ENSP00000056217:p.Glu200*					ARHGEF5_uc003wek.2_Nonsense_Mutation_p.E200*	p.E200*	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			2	716	+	Melanoma(164;0.14)		200					A6NNJ2|Q6ZML7	Nonsense_Mutation	SNP	ENST00000056217.5	37	c.598G>T	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367668	0.82463	.	.	ENSG00000050327	ENST00000056217	.	.	.	4.16	3.28	0.37604	.	0.630595	0.12251	U	0.485584	.	.	.	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6085	0.39648	0.1041:0.0:0.8959:0.0	.	.	.	.	X	200	.	.	E	+	1	0	ARHGEF5	143691293	0.001000	0.12720	0.007000	0.13788	0.009000	0.06853	0.982000	0.29539	0.975000	0.38392	0.650000	0.86243	GAA		0.522	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		16	518	1	0	1.36e-06	2.54e-06	16	518				
LPL	4023	broad.mit.edu	37	8	19811807	19811807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:19811807C>T	ENST00000311322.8	+	5	1188	c.718C>T	c.(718-720)Cag>Tag	p.Q240*		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	240					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)	p.Q240*(1)		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)	AGGTACTTTTCAGCCAGGATG	0.443																																						uc003wzk.3		NA																	1	Substitution - Nonsense(1)	p.Q240*(1)	pancreas(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(718-720)CAG>TAG		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						118.0	113.0	114.0					8																	19811807		2203	4300	6503	SO:0001587	stop_gained	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.chr8:19811807C>T		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.718C>T	8.37:g.19811807C>T	ENSP00000309757:p.Gln240*						p.Q240*	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1088	+			240					B2R5T9|Q16282|Q16283|Q96FC4	Nonsense_Mutation	SNP	ENST00000311322.8	37	c.718C>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	41	8.860744	0.98980	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.5124	18.3732	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	240;164;226	.	.	Q	+	1	0	LPL	19856087	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	CAG		0.443	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			12	56	0	0	0	0	12	56				
TEX15	56154	broad.mit.edu	37	8	30702709	30702709	+	Silent	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:30702709C>G	ENST00000256246.2	-	1	3899	c.3825G>C	c.(3823-3825)gtG>gtC	p.V1275V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1275					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAAGTGCTTCACATTTGAAT	0.358																																						uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(3823-3825)GTG>GTC		testis expressed 15							96.0	92.0	93.0					8																	30702709		2203	4299	6502	SO:0001819	synonymous_variant	56154							g.chr8:30702709C>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3825G>C	8.37:g.30702709C>G							p.V1275V	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3825	-			1275						Silent	SNP	ENST00000256246.2	37	c.3825G>C	CCDS6080.1																																																																																				0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			13	34	0	0	0	0	13	34				
PRKDC	5591	broad.mit.edu	37	8	48697804	48697804	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:48697804G>A	ENST00000314191.2	-	78	11030	c.10974C>T	c.(10972-10974)ttC>ttT	p.F3658F	PRKDC_ENST00000338368.3_Silent_p.F3658F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3659					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAATGTCGTTGAAGTCACTGA	0.363								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(10975-10977)TTC>TTT	NHEJ	protein kinase, DNA-activated, catalytic							81.0	77.0	78.0					8																	48697804		1824	4082	5906	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48697804G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10974C>T	8.37:g.48697804G>A						PRKDC_uc003xqj.2_Silent_p.F3659F|PRKDC_uc011ldh.1_Intron	p.F3659F	NM_006904	NP_008835	P78527	PRKDC_HUMAN			78	11034	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3659					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.10977C>T																																																																																					0.363	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	32	0	0	0	0	6	32				
MOS	4342	broad.mit.edu	37	8	57026507	57026507	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:57026507C>A	ENST00000311923.1	-	1	34	c.35G>T	c.(34-36)cGg>cTg	p.R12L		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	12					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAACTCGCTCCGGAGGTAGGG	0.677																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(34-36)CGG>CTG		v-mos Moloney murine sarcoma viral oncogene							15.0	19.0	17.0					8																	57026507		2191	4268	6459	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026507C>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.35G>T	8.37:g.57026507C>A	ENSP00000310722:p.Arg12Leu						p.R12L	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	35	-			12					Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.35G>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603283	0.46423	.	.	ENSG00000172680	ENST00000311923	T	0.80824	-1.42	5.14	4.27	0.50696	.	0.153189	0.43579	D	0.000548	T	0.62245	0.2412	N	0.08118	0	0.21802	N	0.999537	B	0.06786	0.001	B	0.04013	0.001	T	0.51896	-0.8647	10	0.33940	T	0.23	.	11.1556	0.48486	0.0:0.1399:0.717:0.1431	.	12	P00540	MOS_HUMAN	L	12	ENSP00000310722:R12L	ENSP00000310722:R12L	R	-	2	0	MOS	57189061	0.942000	0.31987	0.118000	0.21660	0.006000	0.05464	1.491000	0.35583	1.165000	0.42670	-0.241000	0.12123	CGG		0.677	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		7	32	1	0	0.00307968	0.00513587	7	32				
TOX	9760	broad.mit.edu	37	8	59872534	59872534	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:59872534C>G	ENST00000361421.1	-	2	356	c.136G>C	c.(136-138)Gag>Cag	p.E46Q		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	46						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGCTCGGCTCTGTCATGCTC	0.388																																					Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1		NA																	0				kidney(2)|lung(1)|skin(1)	4						c.(136-138)GAG>CAG		thymus high mobility group box protein TOX							97.0	91.0	93.0					8																	59872534		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59872534C>G		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.136G>C	8.37:g.59872534C>G	ENSP00000354842:p.Glu46Gln						p.E46Q	NM_014729	NP_055544	O94900	TOX_HUMAN			2	357	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	46					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.136G>C	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464430	0.63513	.	.	ENSG00000198846	ENST00000361421	T	0.18338	2.22	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000002	T	0.39545	0.1082	L	0.54323	1.7	0.51482	D	0.999924	D	0.63880	0.993	D	0.70227	0.968	T	0.00827	-1.1550	9	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	46	O94900	TOX_HUMAN	Q	46	ENSP00000354842:E46Q	.	E	-	1	0	TOX	60035088	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.223000	0.72257	2.778000	0.95560	0.655000	0.94253	GAG		0.388	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		3	55	0	0	0	0	3	55				
EYA1	2138	broad.mit.edu	37	8	72127676	72127676	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:72127676A>G	ENST00000340726.3	-	16	2182	c.1543T>C	c.(1543-1545)Tat>Cat	p.Y515H	EYA1_ENST00000419131.1_Missense_Mutation_p.Y480H|EYA1_ENST00000388741.2_Missense_Mutation_p.Y481H|EYA1_ENST00000303824.7_Missense_Mutation_p.Y509H|EYA1_ENST00000388740.3_Missense_Mutation_p.Y482H|EYA1_ENST00000388742.4_Missense_Mutation_p.Y515H|EYA1_ENST00000388743.2_Missense_Mutation_p.Y514H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	515					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCTAACCCATACAGCAGGACT	0.348																																						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(1543-1545)TAT>CAT		eyes absent 1 isoform b							88.0	92.0	91.0					8																	72127676		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72127676A>G	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1543T>C	8.37:g.72127676A>G	ENSP00000342626:p.Tyr515His					EYA1_uc003xyr.3_Missense_Mutation_p.Y480H|EYA1_uc003xyt.3_Missense_Mutation_p.Y482H|EYA1_uc010lzf.2_Missense_Mutation_p.Y442H|EYA1_uc003xyu.2_Missense_Mutation_p.Y515H|EYA1_uc011lfe.1_Missense_Mutation_p.Y509H|EYA1_uc003xyv.2_Missense_Mutation_p.Y393H	p.Y515H	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		15	1830	-	Breast(64;0.046)		515					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1543T>C	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725413	0.89298	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;T	0.97232	-4.3;-4.3;-4.3;-4.3;-4.3;-4.3;-1.39	5.52	5.52	0.82312	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.062089	0.64402	D	0.000003	D	0.98419	0.9474	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.98;0.997;0.998;0.98;0.987	D	0.99651	1.0991	10	0.87932	D	0	-10.8389	15.6365	0.76958	1.0:0.0:0.0:0.0	.	509;442;482;515;480	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	H	515;515;483;482;509;481;514;480	ENSP00000373394:Y515H;ENSP00000342626:Y515H;ENSP00000373392:Y482H;ENSP00000303221:Y509H;ENSP00000373393:Y481H;ENSP00000373395:Y514H;ENSP00000410176:Y480H	ENSP00000303221:Y509H	Y	-	1	0	EYA1	72290230	1.000000	0.71417	0.924000	0.36721	0.957000	0.61999	9.237000	0.95368	2.091000	0.63221	0.460000	0.39030	TAT		0.348	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		42	68	0	0	0	0	42	68				
KCNB2	9312	broad.mit.edu	37	8	73849296	73849296	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:73849296C>G	ENST00000523207.1	+	3	2294	c.1706C>G	c.(1705-1707)gCa>gGa	p.A569G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	569					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGCCATCTGCATATGAAGAA	0.507																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1705-1707)GCA>GGA		potassium voltage-gated channel, Shab-related							80.0	72.0	75.0					8																	73849296		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849296C>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1706C>G	8.37:g.73849296C>G	ENSP00000430846:p.Ala569Gly						p.A569G	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2294	+	Breast(64;0.137)		569			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1706C>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	6.947	0.544540	0.13312	.	.	ENSG00000182674	ENST00000523207	T	0.32023	1.47	5.46	-1.85	0.07784	.	1.668940	0.03922	N	0.283765	T	0.23054	0.0557	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25882	-1.0119	10	0.28530	T	0.3	.	8.3061	0.32042	0.0:0.3742:0.3836:0.2423	.	569	Q92953	KCNB2_HUMAN	G	569	ENSP00000430846:A569G	ENSP00000430846:A569G	A	+	2	0	KCNB2	74011850	0.000000	0.05858	0.001000	0.08648	0.942000	0.58702	-0.819000	0.04462	-0.021000	0.14009	0.655000	0.94253	GCA		0.507	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	78	0	0	0	0	7	78				
ZFHX4	79776	broad.mit.edu	37	8	77617387	77617387	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:77617387G>C	ENST00000521891.2	+	2	1512	c.1064G>C	c.(1063-1065)gGa>gCa	p.G355A	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G355A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G355A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G355A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACCTCATAGGACCCGATCCA	0.448										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1063-1065)GGA>GCA		zinc finger homeodomain 4							100.0	94.0	96.0					8																	77617387		1834	4087	5921	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617387G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1064G>C	8.37:g.77617387G>C	ENSP00000430497:p.Gly355Ala	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G355A|ZFHX4_uc003yau.1_Missense_Mutation_p.G355A|ZFHX4_uc003yaw.1_Missense_Mutation_p.G355A	p.G355A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1451	+			355					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1064G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631158	0.46944	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58358	0.36;0.38;0.35;0.34	5.53	5.53	0.82687	.	0.000000	0.43919	U	0.000505	T	0.69628	0.3132	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.998;0.998;0.976	T	0.69862	-0.5030	10	0.72032	D	0.01	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	355;355;355;355	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	A	355	ENSP00000430497:G355A;ENSP00000399605:G355A;ENSP00000050961:G355A;ENSP00000430848:G355A	ENSP00000050961:G355A	G	+	2	0	ZFHX4	77779942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.882000	0.98803	0.655000	0.94253	GGA		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	98	0	0	0	0	13	98				
ZFHX4	79776	broad.mit.edu	37	8	77765696	77765696	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:77765696C>G	ENST00000521891.2	+	10	6987	c.6539C>G	c.(6538-6540)aCg>aGg	p.T2180R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2135R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2154R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2135R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.T2164M(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTAGAAATACGCTTTTTAAG	0.373										HNSCC(33;0.089)																												uc003yav.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6403-6405)ACG>AGG		zinc finger homeodomain 4							112.0	109.0	110.0					8																	77765696		1835	4088	5923	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765696C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6539C>G	8.37:g.77765696C>G	ENSP00000430497:p.Thr2180Arg	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.T2180R|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2135R	p.T2135R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6791	+			2135			Homeobox 1.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6404C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526598	0.44969	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	3.92	3.92	0.45320	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.45867	U	0.000339	D	0.88771	0.6527	N	0.00471	-1.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93800	0.7100	10	0.87932	D	0	.	16.4682	0.84092	0.0:1.0:0.0:0.0	.	2135;2135;2180	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2180;2164;2135;2135;2154	ENSP00000430497:T2180R;ENSP00000399605:T2135R;ENSP00000050961:T2135R;ENSP00000430848:T2154R	ENSP00000050961:T2135R	T	+	2	0	ZFHX4	77928251	1.000000	0.71417	0.774000	0.31636	0.697000	0.40408	7.548000	0.82154	2.200000	0.70718	0.455000	0.32223	ACG		0.373	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		55	90	0	0	0	0	55	90				
RUNX1T1	862	broad.mit.edu	37	8	92983035	92983035	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:92983035G>C	ENST00000523629.1	-	11	1844	c.1390C>G	c.(1390-1392)Ctg>Gtg	p.L464V	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L427V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L475V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L464V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L427V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L427V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L437V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L437V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	464					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCTTCTGCAGCTCCGTCATC	0.597																																						uc003yfd.2		NA																	0		p.A464S(1)		lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1390-1392)CTG>GTG		acute myelogenous leukemia 1 translocation 1							74.0	59.0	64.0					8																	92983035		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92983035G>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1390C>G	8.37:g.92983035G>C	ENSP00000428543:p.Leu464Val					RUNX1T1_uc003yfc.1_Missense_Mutation_p.L437V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.L427V|RUNX1T1_uc010mao.2_Missense_Mutation_p.L437V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.L475V|RUNX1T1_uc010man.1_Missense_Mutation_p.L89V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.L427V	p.L464V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		10	1474	-			464					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1390C>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286478	0.59867	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.87	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	L	0.47190	1.495	0.58432	D	0.999998	B;D;B;D	0.76494	0.172;0.999;0.046;0.999	B;D;B;D	0.87578	0.085;0.998;0.016;0.997	T	0.06356	-1.0831	10	0.22109	T	0.4	-10.2405	10.0612	0.42275	0.1683:0.0:0.8317:0.0	.	475;427;464;437	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	V	464;437;464;427;427;427;475;437	ENSP00000428543:L464V;ENSP00000379520:L437V;ENSP00000265814:L464V;ENSP00000353504:L427V;ENSP00000390137:L427V;ENSP00000428742:L427V;ENSP00000402257:L475V;ENSP00000430728:L437V	ENSP00000265814:L464V	L	-	1	2	RUNX1T1	93052211	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.399000	0.52586	2.785000	0.95823	0.655000	0.94253	CTG		0.597	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		3	49	0	0	0	0	3	49				
ESRP1	54845	broad.mit.edu	37	8	95680467	95680467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:95680467G>A	ENST00000433389.2	+	10	1412	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	ESRP1_ENST00000423620.2_Missense_Mutation_p.E408K|ESRP1_ENST00000454170.2_Missense_Mutation_p.E408K|ESRP1_ENST00000358397.5_Missense_Mutation_p.E408K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	408					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CACAGCAGCTGAAGTTCAGCA	0.373																																						uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(1222-1224)GAA>AAA		RNA binding motif protein 35A isoform 1							53.0	54.0	53.0					8																	95680467		1949	4165	6114	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95680467G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1222G>A	8.37:g.95680467G>A	ENSP00000405738:p.Glu408Lys					ESRP1_uc003ygr.3_Missense_Mutation_p.E408K|ESRP1_uc003ygs.3_Missense_Mutation_p.E408K|ESRP1_uc003ygt.3_Missense_Mutation_p.E408K|ESRP1_uc003ygu.3_Missense_Mutation_p.E408K|ESRP1_uc003ygv.2_Missense_Mutation_p.E248K|ESRP1_uc003ygw.2_Missense_Mutation_p.E248K	p.E408K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			10	1405	+			408					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1222G>A	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469826	0.96274	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.30714	1.52;2.34;2.33;3.4;2.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.87578	0.994;0.993;0.993;0.996;0.998;0.984	T	0.57154	-0.7860	10	0.87932	D	0	-15.8612	19.5733	0.95430	0.0:0.0:1.0:0.0	.	408;408;408;408;408;408	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	K	408;408;408;408;267	ENSP00000407349:E408K;ENSP00000405738:E408K;ENSP00000351168:E408K;ENSP00000402766:E408K;ENSP00000429125:E267K	ENSP00000351168:E408K	E	+	1	0	ESRP1	95749643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.737000	0.98831	2.618000	0.88619	0.563000	0.77884	GAA		0.373	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		8	55	0	0	0	0	8	55				
MTERF3	51001	broad.mit.edu	37	8	97270606	97270606	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:97270606C>G	ENST00000287025.3	-	2	411	c.313G>C	c.(313-315)Gat>Cat	p.D105H	MTERFD1_ENST00000522822.1_5'Flank|MTERFD1_ENST00000524341.1_5'Flank|MTERFD1_ENST00000523821.1_Missense_Mutation_p.D105H	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		105					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AGCTCAGAATCAAAGCTGGAT	0.413																																						uc003yhs.1		NA																	0				ovary(1)	1						c.(313-315)GAT>CAT		MTERF domain containing 1 precursor							47.0	47.0	47.0					8																	97270606		2202	4300	6502	SO:0001583	missense	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97270606C>G																												ENST00000287025.3:c.313G>C	8.37:g.97270606C>G	ENSP00000287025:p.Asp105His					MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Missense_Mutation_p.D105H	p.D105H	NM_015942	NP_057026	Q96E29	MTER1_HUMAN			2	391	-	Breast(36;5.16e-05)		105					B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	c.313G>C	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788946	0.70337	.	.	ENSG00000156469	ENST00000523821;ENST00000287025	T	0.34275	1.37	5.7	5.7	0.88788	.	0.660669	0.15892	N	0.239522	T	0.52306	0.1726	L	0.50333	1.59	0.20307	N	0.999912	D;D	0.61080	0.989;0.98	P;P	0.61592	0.891;0.891	T	0.45891	-0.9230	10	0.54805	T	0.06	-8.8493	15.3274	0.74176	0.0:1.0:0.0:0.0	.	105;105	E5RIK9;Q96E29	.;MTER1_HUMAN	H	105	ENSP00000287025:D105H	ENSP00000287025:D105H	D	-	1	0	MTERFD1	97339782	0.518000	0.26234	0.204000	0.23530	0.943000	0.58893	2.934000	0.48956	2.665000	0.90641	0.655000	0.94253	GAT		0.413	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			6	36	0	0	0	0	6	36				
OXR1	55074	broad.mit.edu	37	8	107715290	107715290	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:107715290G>A	ENST00000442977.2	+	7	934	c.835G>A	c.(835-837)Gat>Aat	p.D279N	OXR1_ENST00000497705.1_Missense_Mutation_p.D211N|OXR1_ENST00000531443.1_Missense_Mutation_p.D278N|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.D278N|OXR1_ENST00000445937.1_Missense_Mutation_p.D278N|OXR1_ENST00000312046.6_Missense_Mutation_p.D271N	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	279					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGAAATTTTGGATAGCAAAAT	0.353																																						uc011lht.1		NA																	0					0						c.(835-837)GAT>AAT		oxidation resistance 1 isoform 1							96.0	93.0	94.0					8																	107715290		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107715290G>A	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.835G>A	8.37:g.107715290G>A	ENSP00000405424:p.Asp279Asn					OXR1_uc003ymf.2_Missense_Mutation_p.D278N|OXR1_uc011lhu.1_Missense_Mutation_p.D271N|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.D211N|OXR1_uc003ymi.1_Missense_Mutation_p.D190N	p.D279N	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	934	+			279					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.835G>A	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.194397|4.194397	0.78902|0.78902	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000517455	T;T;T;T;T;T|.	0.26223|.	2.63;2.63;2.61;2.61;1.75;2.63|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61311|.	0.2337|.	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B;B;P;P|.	0.44044|.	0.278;0.182;0.825;0.523|.	B;B;P;B|.	0.46144|.	0.226;0.085;0.505;0.226|.	T|.	0.56601|.	-0.7952|.	10|.	0.26408|.	T|.	0.33|.	-12.2653|-12.2653	13.32|13.32	0.60428|0.60428	0.0725:0.0:0.9275:0.0|0.0725:0.0:0.9275:0.0	.|.	271;279;211;278|.	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.|.	N|X	278;278;278;279;211;271|194	ENSP00000402918:D278N;ENSP00000431966:D278N;ENSP00000429205:D278N;ENSP00000405424:D279N;ENSP00000431014:D211N;ENSP00000311026:D271N|.	ENSP00000311026:D271N|.	D|W	+|+	1|3	0|0	OXR1|OXR1	107784466|107784466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.760000|6.760000	0.74939|0.74939	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	GAT|TGG		0.353	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		17	27	0	0	0	0	17	27				
OXR1	55074	broad.mit.edu	37	8	107763141	107763141	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:107763141A>G	ENST00000442977.2	+	16	2696	c.2597A>G	c.(2596-2598)cAa>cGa	p.Q866R	OXR1_ENST00000531443.1_Missense_Mutation_p.Q838R|OXR1_ENST00000449762.2_Missense_Mutation_p.Q208R|OXR1_ENST00000452423.2_Missense_Mutation_p.Q286R|OXR1_ENST00000517566.2_Missense_Mutation_p.Q865R|OXR1_ENST00000297447.6_Missense_Mutation_p.Q235R|OXR1_ENST00000445937.1_Missense_Mutation_p.Q838R|OXR1_ENST00000521592.1_Missense_Mutation_p.Q111R|OXR1_ENST00000312046.6_Missense_Mutation_p.Q831R	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	866					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTCTTTATCCAAGATATTGAA	0.388																																						uc011lht.1		NA																	0					0						c.(2596-2598)CAA>CGA		oxidation resistance 1 isoform 1							66.0	70.0	69.0					8																	107763141		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107763141A>G	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2597A>G	8.37:g.107763141A>G	ENSP00000405424:p.Gln866Arg					OXR1_uc003ymf.2_Missense_Mutation_p.Q838R|OXR1_uc011lhu.1_Missense_Mutation_p.Q831R|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Missense_Mutation_p.Q494R|OXR1_uc003ymk.2_Missense_Mutation_p.Q235R|OXR1_uc003yml.2_Missense_Mutation_p.Q208R	p.Q866R	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		16	2696	+			866					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.2597A>G	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.56|12.56	1.975784|1.975784	0.34848|0.34848	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000519415|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046;ENST00000449762;ENST00000297447;ENST00000521592	.|T;T;T;T;T;T;T;T;T	.|0.42900	.|0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.59|5.59	4.41|4.41	0.53225|0.53225	.|TLDc (2);	.|0.049162	.|0.85682	.|D	.|0.000000	T|T	0.41627|0.41627	0.1167|0.1167	M|M	0.63208|0.63208	1.945|1.945	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.26400	.|0.041;0.148;0.009;0.005;0.003;0.041	.|B;B;B;B;B;B	.|0.31614	.|0.059;0.133;0.049;0.009;0.011;0.085	T|T	0.30592|0.30592	-0.9973|-0.9973	5|10	.|0.30854	.|T	.|0.27	-16.8511|-16.8511	12.1329|12.1329	0.53952|0.53952	0.9299:0.0:0.0701:0.0|0.9299:0.0:0.0701:0.0	.|.	.|831;866;865;208;235;838	.|Q8N573-2;Q8N573;D3HIS6;B7Z8N5;Q8N573-4;Q8N573-5	.|.;OXR1_HUMAN;.;.;.;.	E|R	510|838;838;865;286;866;831;208;235;111	.|ENSP00000402918:Q838R;ENSP00000431966:Q838R;ENSP00000429205:Q865R;ENSP00000395032:Q286R;ENSP00000405424:Q866R;ENSP00000311026:Q831R;ENSP00000408659:Q208R;ENSP00000297447:Q235R;ENSP00000435104:Q111R	.|ENSP00000297447:Q235R	K|Q	+|+	1|2	0|0	OXR1|OXR1	107832317|107832317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.409000|7.409000	0.80053|0.80053	2.231000|2.231000	0.72958|0.72958	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.388	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		18	58	0	0	0	0	18	58				
TRHR	7201	broad.mit.edu	37	8	110100017	110100017	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110100017C>A	ENST00000518632.1	+	2	627	c.276C>A	c.(274-276)gtC>gtA	p.V92V	TRHR_ENST00000311762.2_Silent_p.V92V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	92					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTTCCTGGGTCTATGGCTATG	0.483																																						uc003ymz.3		NA																	0				skin(2)|lung(1)	3						c.(274-276)GTC>GTA		thyrotropin-releasing hormone receptor							155.0	144.0	148.0					8																	110100017		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100017C>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.276C>A	8.37:g.110100017C>A							p.V92V	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	292	+			92			Extracellular (Potential).		Q2M339	Silent	SNP	ENST00000518632.1	37	c.276C>A	CCDS6311.1																																																																																				0.483	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			43	83	1	0	3.05e-18	6.47e-18	43	83				
NUDCD1	84955	broad.mit.edu	37	8	110293364	110293364	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110293364C>G	ENST00000239690.4	-	6	1235	c.861G>C	c.(859-861)ttG>ttC	p.L287F	NUDCD1_ENST00000427660.2_Missense_Mutation_p.L258F	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TGGTTACTGTCAAATCATCTT	0.363																																						uc003ynb.3		NA																	0				ovary(1)|breast(1)	2						c.(859-861)TTG>TTC		NudC domain containing 1 isoform 1							119.0	106.0	110.0					8																	110293364		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110293364C>G	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.861G>C	8.37:g.110293364C>G	ENSP00000239690:p.Leu287Phe					NUDCD1_uc003yna.2_Missense_Mutation_p.L258F|NUDCD1_uc010mcl.2_Missense_Mutation_p.L200F|NUDCD1_uc010mcm.1_Missense_Mutation_p.L200F	p.L287F	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		6	972	-	all_neural(195;0.219)		287			CS.			Missense_Mutation	SNP	ENST00000239690.4	37	c.861G>C	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494741	0.64186	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.15603	2.41;2.41	5.39	5.39	0.77823	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.324790	0.29616	N	0.011641	T	0.37544	0.1007	M	0.83118	2.625	0.40179	D	0.977271	D;P;P	0.59357	0.985;0.947;0.935	P;P;P	0.55999	0.668;0.789;0.684	T	0.33828	-0.9853	10	0.72032	D	0.01	-6.5219	11.6017	0.51006	0.0:0.9189:0.0:0.0811	.	200;287;258	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	F	287;258	ENSP00000239690:L287F;ENSP00000410707:L258F	ENSP00000239690:L287F	L	-	3	2	NUDCD1	110362540	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	0.583000	0.23849	2.533000	0.85409	0.650000	0.86243	TTG		0.363	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		4	51	0	0	0	0	4	51				
PKHD1L1	93035	broad.mit.edu	37	8	110420425	110420425	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110420425C>G	ENST00000378402.5	+	18	2065	c.1961C>G	c.(1960-1962)tCa>tGa	p.S654*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	654					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATGGTCATCAGAAGCTGAA	0.448										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(1960-1962)TCA>TGA		fibrocystin L precursor							108.0	106.0	107.0					8																	110420425		1957	4158	6115	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420425C>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1961C>G	8.37:g.110420425C>G	ENSP00000367655:p.Ser654*	HNSCC(38;0.096)					p.S654*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	2065	+			654			Extracellular (Potential).		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.1961C>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	38	6.662222	0.97743	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.97	5.97	0.96955	.	0.268832	0.30930	N	0.008593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	.	.	.	X	654	.	ENSP00000367655:S654X	S	+	2	0	PKHD1L1	110489601	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	4.945000	0.63568	2.836000	0.97738	0.655000	0.94253	TCA		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		10	37	0	0	0	0	10	37				
KCNV1	27012	broad.mit.edu	37	8	110984839	110984839	+	Silent	SNP	G	G	T	rs374133519		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:110984839G>T	ENST00000524391.1	-	3	1671	c.639C>A	c.(637-639)ggC>ggA	p.G213G	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Silent_p.G213G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	213					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGAGATGACGCCAAAGATAC	0.522																																						uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(637-639)GGC>GGA		potassium channel, subfamily V, member 1							91.0	84.0	87.0					8																	110984839		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984839G>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.639C>A	8.37:g.110984839G>T						KCNV1_uc010mcw.2_Silent_p.G213G	p.G213G	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	981	-	all_neural(195;0.219)		213			Helical; Name=Segment S1; (Potential).		Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.639C>A	CCDS6314.1																																																																																				0.522	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		25	32	1	0	2.4e-15	5.03e-15	25	32				
CSMD3	114788	broad.mit.edu	37	8	113243846	113243846	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:113243846C>T	ENST00000297405.5	-	69	11000	c.10756G>A	c.(10756-10758)Gat>Aat	p.D3586N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D3417N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D3516N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3546N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3586						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						GTAGCTCCATCAGGCTCAGCA	0.323										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.(10756-10758)GAT>AAT		CUB and Sushi multiple domains 3 isoform 1							105.0	113.0	110.0					8																	113243846		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113243846C>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.10756G>A	8.37:g.113243846C>T	ENSP00000297405:p.Asp3586Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D2788N|CSMD3_uc003ynt.2_Missense_Mutation_p.D3546N|CSMD3_uc011lhx.1_Missense_Mutation_p.D3417N	p.D3586N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			69	10915	-			3586			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10756G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563565	0.86335	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25414	2.1;2.09;2.13;1.8;2.12	5.15	5.15	0.70609	.	0.065565	0.64402	D	0.000014	T	0.25680	0.0625	N	0.16478	0.41	0.48452	D	0.999654	B;B;P	0.48911	0.027;0.016;0.917	B;B;P	0.48598	0.018;0.008;0.583	T	0.01725	-1.1287	10	0.40728	T	0.16	.	19.1714	0.93580	0.0:1.0:0.0:0.0	.	3417;3586;3546	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	3546;3586;2856;3417;3516	ENSP00000345799:D3546N;ENSP00000297405:D3586N;ENSP00000341558:D2856N;ENSP00000412263:D3417N;ENSP00000343124:D3516N	ENSP00000297405:D3586N	D	-	1	0	CSMD3	113313022	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.590000	0.61013	2.843000	0.97960	0.585000	0.79938	GAT		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	122	0	0	0	0	9	122				
CSMD3	114788	broad.mit.edu	37	8	113562955	113562955	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:113562955G>T	ENST00000297405.5	-	27	4753	c.4509C>A	c.(4507-4509)atC>atA	p.I1503I	CSMD3_ENST00000455883.2_Silent_p.I1399I|CSMD3_ENST00000352409.3_Silent_p.I1503I|CSMD3_ENST00000343508.3_Silent_p.I1463I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1503	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCAAACTGGATGGTTACTA	0.343										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.(4507-4509)ATC>ATA		CUB and Sushi multiple domains 3 isoform 1							66.0	68.0	68.0					8																	113562955		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113562955G>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.4509C>A	8.37:g.113562955G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.I775I|CSMD3_uc003ynt.2_Silent_p.I1463I|CSMD3_uc011lhx.1_Silent_p.I1399I	p.I1503I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			27	4668	-			1503			Extracellular (Potential).|CUB 8.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4509C>A	CCDS6315.1																																																																																				0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	75	1	0	5.49e-09	1.07e-08	8	75				
TRPS1	7227	broad.mit.edu	37	8	116599354	116599354	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:116599354C>A	ENST00000220888.5	-	4	2694	c.2535G>T	c.(2533-2535)ttG>ttT	p.L845F	TRPS1_ENST00000519674.1_Missense_Mutation_p.L845F|TRPS1_ENST00000520276.1_Missense_Mutation_p.L849F|TRPS1_ENST00000395715.3_Missense_Mutation_p.L858F|TRPS1_ENST00000519076.1_Missense_Mutation_p.L599F			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	845					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCACAGCCAAGCCATAAA	0.597									Langer-Giedion syndrome																													uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2533-2535)TTG>TTT		zinc finger transcription factor TRPS1							35.0	37.0	37.0					8																	116599354		1830	4086	5916	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599354C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2535G>T	8.37:g.116599354C>A	ENSP00000220888:p.Leu845Phe					TRPS1_uc011lhy.1_Missense_Mutation_p.L849F|TRPS1_uc003yny.2_Missense_Mutation_p.L858F|TRPS1_uc010mcy.2_Missense_Mutation_p.L845F	p.L845F	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2994	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		845					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2535G>T		.	.	.	.	.	.	.	.	.	.	C	19.77	3.890142	0.72524	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98717	-5.09;-5.07;-5.04;-5.07;0.74	5.76	5.76	0.90799	.	0.409827	0.24899	N	0.034701	D	0.98516	0.9505	L	0.32530	0.975	0.50039	D	0.99984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.963;0.984	D	0.99924	1.1275	10	0.72032	D	0.01	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	849;845;858	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	F	858;845;599;849;845	ENSP00000379065:L858F;ENSP00000220888:L845F;ENSP00000428910:L599F;ENSP00000428680:L849F;ENSP00000429174:L845F	ENSP00000220888:L845F	L	-	3	2	TRPS1	116668529	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.652000	0.46682	2.726000	0.93360	0.655000	0.94253	TTG		0.597	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		5	60	1	0	3.86e-05	6.86e-05	5	60				
EXT1	2131	broad.mit.edu	37	8	118849376	118849376	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:118849376C>A	ENST00000378204.2	-	2	1833	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	343					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGAAGGACCCAAGCCTGCGA	0.493			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1		NA	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			0				ovary(2)|lung(2)	4						c.(1027-1029)GGG>TGG		exostosin 1							109.0	108.0	109.0					8																	118849376		2203	4300	6503	SO:0001583	missense	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118849376C>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1027G>T	8.37:g.118849376C>A	ENSP00000367446:p.Gly343Trp						p.G343W	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		2	1800	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		343			Lumenal (Potential).		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.1027G>T	CCDS6324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.9|29.9	5.047929|5.047929	0.93740|0.93740	.|.	.|.	ENSG00000182197|ENSG00000182197	ENST00000378204|ENST00000436216	D|.	0.97505|.	-4.41|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84474|0.84474	0.5480|0.5480	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.85271|0.85271	0.1056|0.1056	10|5	0.72032|.	D|.	0.01|.	-8.5276|-8.5276	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	343|.	Q16394|.	EXT1_HUMAN|.	W|L	343|132	ENSP00000367446:G343W|.	ENSP00000367446:G343W|.	G|W	-|-	1|2	0|0	EXT1|EXT1	118918557|118918557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.814000|7.814000	0.86154|0.86154	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.493	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		16	153	1	0	1.02e-10	2.04e-10	16	153				
COL14A1	7373	broad.mit.edu	37	8	121295907	121295907	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:121295907A>G	ENST00000297848.3	+	32	4127	c.3857A>G	c.(3856-3858)tAc>tGc	p.Y1286C	COL14A1_ENST00000309791.4_Missense_Mutation_p.Y1286C|COL14A1_ENST00000247781.3_Missense_Mutation_p.Y1191C	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)			CCCTCCGACTACACAATCAGT	0.393																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3856-3858)TAC>TGC		collagen, type XIV, alpha 1 precursor							163.0	151.0	155.0					8																	121295907		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.chr8:121295907A>G		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.3857A>G	8.37:g.121295907A>G	ENSP00000297848:p.Tyr1286Cys					COL14A1_uc003yoz.2_Missense_Mutation_p.Y251C	p.Y1286C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		32	4122	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1286			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3857A>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128475	0.77549	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.22945	1.93;1.93;1.93	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60702	-0.7211	10	0.87932	D	0	.	15.5086	0.75760	1.0:0.0:0.0:0.0	.	1286	Q05707	COEA1_HUMAN	C	1286;1286;1191	ENSP00000311809:Y1286C;ENSP00000297848:Y1286C;ENSP00000247781:Y1191C	ENSP00000247781:Y1191C	Y	+	2	0	COL14A1	121365088	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.063000	0.61619	0.379000	0.24179	TAC		0.393	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		41	93	0	0	0	0	41	93				
FAM135B	51059	broad.mit.edu	37	8	139263149	139263149	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139263149G>T	ENST00000395297.1	-	6	647	c.477C>A	c.(475-477)ttC>ttA	p.F159L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	159										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGACAGGTGGAAATAGTCGA	0.592										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(475-477)TTC>TTA		hypothetical protein LOC51059							123.0	134.0	130.0					8																	139263149		2081	4211	6292	SO:0001583	missense	51059							g.chr8:139263149G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.477C>A	8.37:g.139263149G>T	ENSP00000378710:p.Phe159Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.F60L|FAM135B_uc003yuz.2_RNA	p.F159L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	648	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		159					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.477C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	33	5.198295	0.94997	.	.	ENSG00000147724	ENST00000395297	T	0.18502	2.21	5.47	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.83953	2.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.46261	-0.9204	10	0.51188	T	0.08	-22.9484	13.375	0.60732	0.0758:0.0:0.9242:0.0	.	159	Q49AJ0	F135B_HUMAN	L	159	ENSP00000378710:F159L	ENSP00000276737:F159L	F	-	3	2	FAM135B	139332331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.792000	0.75125	1.335000	0.45486	0.561000	0.74099	TTC		0.592	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		24	138	1	0	2.52e-20	5.37e-20	24	138				
COL22A1	169044	broad.mit.edu	37	8	139729092	139729092	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139729092G>A	ENST00000303045.6	-	28	2822	c.2376C>T	c.(2374-2376)ggC>ggT	p.G792G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G792G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	792	Collagen-like 6.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCTGCCAGGCCCTGCTCCC	0.393										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(2374-2376)GGC>GGT		collagen, type XXII, alpha 1							72.0	72.0	72.0					8																	139729092		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139729092G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2376C>T	8.37:g.139729092G>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.G92G	p.G792G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		28	2823	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		792			Pro-rich.|Gly-rich.|Collagen-like 6.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.2376C>T	CCDS6376.1																																																																																				0.393	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		13	47	0	0	0	0	13	47				
COL22A1	169044	broad.mit.edu	37	8	139790645	139790645	+	Missense_Mutation	SNP	G	G	T	rs149741596		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:139790645G>T	ENST00000303045.6	-	15	2155	c.1709C>A	c.(1708-1710)cCc>cAc	p.P570H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P570H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	570	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTCCTTGGGGCCCCTGCAG	0.562										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(1708-1710)CCC>CAC		collagen, type XXII, alpha 1							42.0	47.0	45.0					8																	139790645		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139790645G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1709C>A	8.37:g.139790645G>T	ENSP00000303153:p.Pro570His	HNSCC(7;0.00092)					p.P570H	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		15	2156	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		570			Pro-rich.|Gly-rich.|Collagen-like 3.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1709C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	4.980	0.181941	0.09495	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000522546	D;D;D	0.98701	-5.08;-5.08;-3.23	4.97	0.969	0.19686	.	0.905692	0.09232	N	0.830439	D	0.97813	0.9282	M	0.76574	2.34	0.09310	N	1	B	0.33044	0.395	B	0.43754	0.43	D	0.94031	0.7301	10	0.37606	T	0.19	.	4.0882	0.09957	0.2236:0.0:0.6206:0.1557	.	570	Q8NFW1	COMA1_HUMAN	H	570;570;20	ENSP00000303153:P570H;ENSP00000387655:P570H;ENSP00000428244:P20H	ENSP00000303153:P570H	P	-	2	0	COL22A1	139859827	0.001000	0.12720	0.339000	0.25562	0.436000	0.31835	0.183000	0.16919	0.059000	0.16252	0.655000	0.94253	CCC		0.562	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	30	1	0	0.00448238	0.00745725	7	30				
LY6K	54742	broad.mit.edu	37	8	143783130	143783130	+	Splice_Site	SNP	G	G	C	rs587742622	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:143783130G>C	ENST00000292430.6	+	2	633	c.216G>C	c.(214-216)gtG>gtC	p.V72V	LY6K_ENST00000522591.1_Silent_p.V72V|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000519387.1_Splice_Site_p.V72V|LY6K_ENST00000561179.1_Splice_Site_p.V130V|LY6K_ENST00000518841.1_Splice_Site_p.V72V|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	72	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TAGCGGCCGTGAGTGAGTATC	0.483																																						uc011ljv.1		NA																	0				central_nervous_system(1)	1						c.(214-216)GTG>GTC		lymphocyte antigen 6 complex, locus K isoform 1							110.0	104.0	106.0					8																	143783130		2203	4300	6503	SO:0001630	splice_region_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143783130G>C	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.217+1G>C	8.37:g.143783130G>C						LY6K_uc011ljw.1_Silent_p.V72V|LY6K_uc011ljx.1_Silent_p.V72V	p.V72V	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN			2	633	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		72			UPAR/Ly6.		G3V116|O15227|Q9BVD7	Silent	SNP	ENST00000292430.6	37	c.216G>C	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	G	0.495	-0.873700	0.02570	.	.	ENSG00000160886	ENST00000522591	.	.	.	2.07	-4.13	0.03904	.	.	.	.	.	.	.	.	.	.	.	0.21499	N	0.999661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1027	0.10020	0.4199:0.3582:0.2219:0.0	.	.	.	.	S	91	.	.	X	+	2	2	LY6K	143780132	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.479000	0.02327	-1.444000	0.01950	-0.373000	0.07131	TGA		0.483	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527	Silent	3	16	0	0	0	0	3	16				
ARHGAP39	80728	broad.mit.edu	37	8	145773627	145773627	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr8:145773627G>A	ENST00000276826.5	-	4	1044	c.843C>T	c.(841-843)ctC>ctT	p.L281L	ARHGAP39_ENST00000377307.2_Silent_p.L281L|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.L281L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	281	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGCTCCCTGGGAGCTCGGCCC	0.692																																						uc003zdt.1		NA																	0					0						c.(841-843)CTC>CTT		KIAA1688 protein							14.0	17.0	16.0					8																	145773627		2193	4290	6483	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773627G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.843C>T	8.37:g.145773627G>A						ARHGAP39_uc011llk.1_Silent_p.L281L|ARHGAP39_uc003zds.1_Silent_p.L281L	p.L281L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			6	1398	-			281			Pro-rich.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.843C>T																																																																																					0.692	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			5	18	0	0	0	0	5	18				
RIC1	57589	broad.mit.edu	37	9	5754839	5754839	+	Splice_Site	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:5754839A>T	ENST00000414202.2	+	15	1793		c.e15-1		KIAA1432_ENST00000251879.6_Splice_Site|KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ttttattttaaGGAGCAAAAT	0.294																																						uc003zji.2		NA																	0					0						c.e14-2		connexin 43-interacting protein 150 isoform a							51.0	53.0	53.0					9																	5754839		2203	4300	6503	SO:0001630	splice_region_variant	57589					integral to membrane		g.chr9:5754839A>T																												ENST00000414202.2:c.1603-1A>T	9.37:g.5754839A>T						KIAA1432_uc003zjh.2_Splice_Site_p.E456_splice|KIAA1432_uc003zjl.3_Splice_Site_p.E419_splice|KIAA1432_uc003zjj.1_Splice_Site	p.E456_splice	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	14	1459	+		Acute lymphoblastic leukemia(23;0.154)							Splice_Site	SNP	ENST00000414202.2	37	c.1366_splice	CCDS34982.2																																																																																				0.294	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		Intron	6	16	0	0	0	0	6	16				
PTPRD	5789	broad.mit.edu	37	9	8517884	8517884	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:8517884G>T	ENST00000381196.4	-	18	2050	c.1507C>A	c.(1507-1509)Ctt>Att	p.L503I	PTPRD_ENST00000355233.5_Missense_Mutation_p.L503I|PTPRD_ENST00000360074.4_Missense_Mutation_p.L490I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L503I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L500I|PTPRD_ENST00000540109.1_Missense_Mutation_p.L503I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L493I|PTPRD_ENST00000537002.1_Missense_Mutation_p.L500I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L490I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L493I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L503I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	503	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCACTTGAAAGGGGACCATCT	0.468										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1507-1509)CTT>ATT		protein tyrosine phosphatase, receptor type, D							135.0	115.0	122.0					9																	8517884		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8517884G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1507C>A	9.37:g.8517884G>T	ENSP00000370593:p.Leu503Ile	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.L503I|PTPRD_uc003zkq.2_Missense_Mutation_p.L503I|PTPRD_uc003zkr.2_Missense_Mutation_p.L497I|PTPRD_uc003zks.2_Missense_Mutation_p.L493I|PTPRD_uc003zkl.2_Missense_Mutation_p.L503I|PTPRD_uc003zkm.2_Missense_Mutation_p.L490I|PTPRD_uc003zkn.2_Missense_Mutation_p.L503I|PTPRD_uc003zko.2_Missense_Mutation_p.L500I	p.L503I	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	2218	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	503			Fibronectin type-III 2.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1507C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475946	0.26511	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66587	0.2804	L	0.48877	1.53	0.80722	D	1	P;P;B;P;B;P;D;D;D	0.69078	0.607;0.755;0.1;0.607;0.067;0.553;0.997;0.988;0.992	P;P;B;P;B;B;D;D;D	0.69479	0.507;0.507;0.098;0.61;0.064;0.373;0.91;0.932;0.964	T	0.63773	-0.6561	9	.	.	.	.	18.9787	0.92747	0.0:0.0:1.0:0.0	.	493;497;503;503;500;500;490;503;503	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	503;503;490;490;503;493;500;500;503;503;503;493	ENSP00000370593:L503I;ENSP00000348812:L503I;ENSP00000353187:L490I;ENSP00000351293:L490I;ENSP00000347373:L503I;ENSP00000380741:L493I;ENSP00000380735:L500I;ENSP00000440515:L500I;ENSP00000438164:L503I;ENSP00000417093:L503I;ENSP00000380731:L493I	.	L	-	1	0	PTPRD	8507884	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	9.414000	0.97362	2.484000	0.83849	0.467000	0.42956	CTT		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			15	44	1	0	5.35e-07	1.01e-06	15	44				
FAM154A	158297	broad.mit.edu	37	9	18928826	18928826	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:18928826C>T	ENST00000380534.4	-	4	928	c.649G>A	c.(649-651)Gag>Aag	p.E217K	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.E25K	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	217										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGCGCTTCTCCACGGGGTGG	0.512																																						uc003zni.1		NA																	0				pancreas(1)	1						c.(649-651)GAG>AAG		hypothetical protein LOC158297							98.0	100.0	99.0					9																	18928826		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928826C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.649G>A	9.37:g.18928826C>T	ENSP00000369907:p.Glu217Lys					FAM154A_uc010mip.1_Missense_Mutation_p.E25K	p.E217K	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	927	-			217					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.649G>A	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737207	0.89482	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.16196	2.36;2.36	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000020	T	0.43875	0.1267	M	0.77820	2.39	0.46279	D	0.998969	D	0.67145	0.996	D	0.69824	0.966	T	0.36311	-0.9753	10	0.56958	D	0.05	-27.6989	17.2336	0.86991	0.0:1.0:0.0:0.0	.	217	Q8IYX7	F154A_HUMAN	K	217;25	ENSP00000369907:E217K;ENSP00000438823:E25K	ENSP00000369907:E217K	E	-	1	0	FAM154A	18918826	1.000000	0.71417	0.972000	0.41901	0.964000	0.63967	5.583000	0.67484	2.640000	0.89533	0.650000	0.86243	GAG		0.512	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		9	51	0	0	0	0	9	51				
ACO1	48	broad.mit.edu	37	9	32418476	32418476	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:32418476A>G	ENST00000309951.6	+	6	763	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	ACO1_ENST00000541043.1_Missense_Mutation_p.T110A|ACO1_ENST00000379923.1_Missense_Mutation_p.T209A	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	209					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CTCGCACACTACCATGATTGA	0.433																																						uc003zqw.3		NA																	0					0						c.(625-627)ACC>GCC		aconitase 1							198.0	184.0	189.0					9																	32418476		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32418476A>G	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.625A>G	9.37:g.32418476A>G	ENSP00000309477:p.Thr209Ala					ACO1_uc010mjh.1_Missense_Mutation_p.T43A|ACO1_uc003zqx.3_Missense_Mutation_p.T209A|ACO1_uc003zqy.3_RNA	p.T209A	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	6	780	+			209					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.625A>G	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.754318	0.89843	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.40225	1.04;1.04;1.04	5.79	5.79	0.91817	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	T	0.83058	-0.0149	10	0.87932	D	0	-3.3821	15.127	0.72489	1.0:0.0:0.0:0.0	.	245;209	Q59FI0;P21399	.;ACOC_HUMAN	A	245;209;209;209;110	ENSP00000309477:T209A;ENSP00000369255:T209A;ENSP00000438733:T110A	ENSP00000309477:T209A	T	+	1	0	ACO1	32408476	1.000000	0.71417	0.928000	0.36995	0.991000	0.79684	9.282000	0.95840	2.223000	0.72356	0.455000	0.32223	ACC		0.433	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		42	140	0	0	0	0	42	140				
ACO1	48	broad.mit.edu	37	9	32420929	32420929	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:32420929G>A	ENST00000309951.6	+	8	1012	c.874G>A	c.(874-876)Gac>Aac	p.D292N	ACO1_ENST00000541043.1_Missense_Mutation_p.D193N|ACO1_ENST00000379923.1_Missense_Mutation_p.D292N	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	292					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GTCCATTGCTGACCGAGCTAC	0.502																																						uc003zqw.3		NA																	0					0						c.(874-876)GAC>AAC		aconitase 1							210.0	193.0	198.0					9																	32420929		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32420929G>A	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.874G>A	9.37:g.32420929G>A	ENSP00000309477:p.Asp292Asn					ACO1_uc010mjh.1_Missense_Mutation_p.D126N|ACO1_uc003zqx.3_Missense_Mutation_p.D292N|ACO1_uc003zqy.3_RNA	p.D292N	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	8	1029	+			292					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.874G>A	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	36	5.656731	0.96724	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.19669	2.13;2.13;2.13	5.84	5.84	0.93424	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.984	T	0.63484	-0.6627	10	0.66056	D	0.02	-24.5045	18.9181	0.92515	0.0:0.0:1.0:0.0	.	328;292	Q59FI0;P21399	.;ACOC_HUMAN	N	328;292;292;292;193	ENSP00000309477:D292N;ENSP00000369255:D292N;ENSP00000438733:D193N	ENSP00000309477:D292N	D	+	1	0	ACO1	32410929	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.779000	0.95612	0.591000	0.81541	GAC		0.502	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		9	163	0	0	0	0	9	163				
TLN1	7094	broad.mit.edu	37	9	35707190	35707190	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35707190C>G	ENST00000314888.9	-	37	5187	c.4834G>C	c.(4834-4836)Gga>Cga	p.G1612R	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.G1612R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1612	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGATGAGTCCCCCGGCACTC	0.637																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(4834-4836)GGA>CGA		talin 1							45.0	53.0	50.0					9																	35707190		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707190C>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4834G>C	9.37:g.35707190C>G	ENSP00000316029:p.Gly1612Arg						p.G1612R	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		37	5188	-	all_epithelial(49;0.167)		1612			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4834G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255403	0.39896	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13657	2.57;2.57	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	M	0.63428	1.95	0.80722	D	1	P	0.51057	0.941	B	0.36378	0.223	T	0.10543	-1.0625	10	0.20046	T	0.44	-14.5726	14.6193	0.68572	0.1457:0.8543:0.0:0.0	.	1612	Q9Y490	TLN1_HUMAN	R	1612	ENSP00000316029:G1612R;ENSP00000442981:G1612R	ENSP00000316029:G1612R	G	-	1	0	TLN1	35697190	0.403000	0.25319	0.990000	0.47175	0.969000	0.65631	2.549000	0.45803	2.691000	0.91804	0.561000	0.74099	GGA		0.637	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		11	48	0	0	0	0	11	48				
TLN1	7094	broad.mit.edu	37	9	35716451	35716451	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35716451C>A	ENST00000314888.9	-	20	2914	c.2561G>T	c.(2560-2562)cGc>cTc	p.R854L	TLN1_ENST00000540444.1_Missense_Mutation_p.R854L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	854					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAAGAGCTTGCGGGAGTTCTC	0.567																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(2560-2562)CGC>CTC		talin 1							167.0	145.0	153.0					9																	35716451		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35716451C>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2561G>T	9.37:g.35716451C>A	ENSP00000316029:p.Arg854Leu						p.R854L	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		20	2915	-	all_epithelial(49;0.167)		854					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2561G>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066979	0.93898	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69040	-0.36;-0.37	5.91	5.91	0.95273	.	0.052156	0.64402	D	0.000001	T	0.62295	0.2416	L	0.50333	1.59	0.80722	D	1	P	0.42123	0.771	B	0.39876	0.312	T	0.66340	-0.5948	10	0.62326	D	0.03	-9.6508	13.4829	0.61348	0.0:0.9291:0.0:0.0708	.	854	Q9Y490	TLN1_HUMAN	L	854	ENSP00000316029:R854L;ENSP00000442981:R854L	ENSP00000316029:R854L	R	-	2	0	TLN1	35706451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.745000	0.47459	2.793000	0.96121	0.655000	0.94253	CGC		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		22	86	1	0	1.96e-10	3.91e-10	22	86				
NPR2	4882	broad.mit.edu	37	9	35801681	35801681	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:35801681G>T	ENST00000342694.2	+	8	1733	c.1478G>T	c.(1477-1479)cGt>cTt	p.R493L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	493					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGTTGTGGCGTATTCGCTGG	0.552																																						uc003zyd.2		NA																	0				ovary(2)|stomach(1)	3						c.(1477-1479)CGT>CTT		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						174.0	132.0	146.0					9																	35801681		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35801681G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1478G>T	9.37:g.35801681G>T	ENSP00000341083:p.Arg493Leu					NPR2_uc010mlb.2_Missense_Mutation_p.R493L	p.R493L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		8	1478	+	all_epithelial(49;0.161)		493			Cytoplasmic (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1478G>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113612	0.94339	.	.	ENSG00000159899	ENST00000342694	T	0.45276	0.9	5.52	5.52	0.82312	.	0.000000	0.43110	D	0.000611	T	0.69223	0.3087	M	0.86420	2.815	0.80722	D	1	D;P	0.71674	0.998;0.679	D;B	0.70935	0.971;0.272	T	0.70230	-0.4929	10	0.40728	T	0.16	.	18.3759	0.90436	0.0:0.0:1.0:0.0	.	493;493	P20594-2;P20594	.;ANPRB_HUMAN	L	493	ENSP00000341083:R493L	ENSP00000341083:R493L	R	+	2	0	NPR2	35791681	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.617000	0.98361	2.767000	0.95098	0.655000	0.94253	CGT		0.552	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			23	45	1	0	1.64e-13	3.41e-13	23	45				
FRMPD1	22844	broad.mit.edu	37	9	37740292	37740292	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:37740292G>T	ENST00000539465.1	+	15	2360	c.1767G>T	c.(1765-1767)gcG>gcT	p.A589A	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.A411A|FRMPD1_ENST00000541302.1_Silent_p.A458A|FRMPD1_ENST00000377765.3_Silent_p.A589A			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	589						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTCCGAGGCGTCCGACTCAG	0.647																																						uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1765-1767)GCG>GCT		FERM and PDZ domain containing 1							32.0	35.0	34.0					9																	37740292		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740292G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1767G>T	9.37:g.37740292G>T						FRMPD1_uc004aah.1_Silent_p.A589A|FRMPD1_uc011lqm.1_Silent_p.A411A|FRMPD1_uc011lqn.1_Silent_p.A458A	p.A589A	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	1811	+			589					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.1767G>T	CCDS6612.1																																																																																				0.647	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		8	37	1	0	0.000157383	0.000274117	8	37				
SPATA31A3	727830	broad.mit.edu	37	9	40702830	40702830	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:40702830C>G	ENST00000356699.5	+	4	516	c.487C>G	c.(487-489)Cag>Gag	p.Q163E	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	163	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAGCATCCTCAGGATCTGGC	0.587																																						uc010mmj.2		NA																	0				ovary(2)|skin(1)	3						c.(487-489)CAG>GAG		hypothetical protein LOC727830							40.0	48.0	45.0					9																	40702830		1913	4105	6018	SO:0001583	missense	727830					integral to membrane		g.chr9:40702830C>G			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.487C>G	9.37:g.40702830C>G	ENSP00000349132:p.Gln163Glu						p.Q163E	NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	516	+			163			Pro-rich.			Missense_Mutation	SNP	ENST00000356699.5	37	c.487C>G	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	C	1.009	-0.688395	0.03328	.	.	ENSG00000147926	ENST00000356699	T	0.03951	3.75	2.04	1.11	0.20524	.	2.034170	0.03321	N	0.191950	T	0.02727	0.0082	N	0.19112	0.55	0.09310	N	1	B	0.33103	0.397	B	0.25291	0.059	T	0.32613	-0.9900	10	0.02654	T	1	-1.0878	4.4464	0.11600	0.0:0.7956:0.0:0.2044	.	163	Q5VYP0	F75A3_HUMAN	E	163	ENSP00000349132:Q163E	ENSP00000349132:Q163E	Q	+	1	0	FAM75A3	40692830	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.145000	0.10265	0.413000	0.25759	0.404000	0.27445	CAG		0.587	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		9	385	0	0	0	0	9	385				
SPATA31A6	389730	broad.mit.edu	37	9	43626924	43626924	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:43626924C>A	ENST00000332857.6	-	4	1791	c.1763G>T	c.(1762-1764)aGt>aTt	p.S588I	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	588					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGTTCAGGACTGACTGGAAA	0.493																																						uc011lrb.1		NA																	0					0						c.(1762-1764)AGT>ATT		hypothetical protein LOC389730							1.0	1.0	1.0					9																	43626924		41	138	179	SO:0001583	missense	389730					integral to membrane		g.chr9:43626924C>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1763G>T	9.37:g.43626924C>A	ENSP00000329825:p.Ser588Ile						p.S588I	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1792	-			588						Missense_Mutation	SNP	ENST00000332857.6	37	c.1763G>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822998	0.32237	.	.	ENSG00000185775	ENST00000332857	T	0.08984	3.03	2.44	1.53	0.23141	.	0.320352	0.27345	N	0.019791	T	0.12902	0.0313	L	0.60455	1.87	0.09310	N	1	P	0.51351	0.944	P	0.55222	0.771	T	0.12218	-1.0556	10	0.19147	T	0.46	-5.2235	5.331	0.15932	0.0:0.8328:0.0:0.1672	.	588	Q5VVP1	F75A6_HUMAN	I	588	ENSP00000329825:S588I	ENSP00000329825:S588I	S	-	2	0	FAM75A6	43566920	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.102000	0.15272	0.610000	0.30035	-0.559000	0.04183	AGT		0.493	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		13	128	1	0	2.38e-13	4.91e-13	13	128				
TMEM2	23670	broad.mit.edu	37	9	74360399	74360399	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:74360399C>A	ENST00000377044.4	-	4	1108	c.569G>T	c.(568-570)gGa>gTa	p.G190V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G190V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	190	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTTTTCTGCTCCAATATGAAG	0.413																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(568-570)GGA>GTA		transmembrane protein 2 isoform a							98.0	100.0	99.0					9																	74360399		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360399C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.569G>T	9.37:g.74360399C>A	ENSP00000366243:p.Gly190Val					TMEM2_uc010mos.2_Missense_Mutation_p.G190V|TMEM2_uc011lsb.1_RNA	p.G190V	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1109	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	190			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.569G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586562	0.86851	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.96554	-4.05;-4.05	5.87	5.87	0.94306	G8 domain (2);	0.000000	0.85682	D	0.000000	D	0.98801	0.9596	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99016	1.0816	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	190;190	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	V	190	ENSP00000366243:G190V;ENSP00000366266:G190V	ENSP00000366243:G190V	G	-	2	0	TMEM2	73550219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.271000	0.78506	2.941000	0.99782	0.655000	0.94253	GGA		0.413	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		34	62	1	0	1.27e-14	2.65e-14	34	62				
TLE4	7091	broad.mit.edu	37	9	82227616	82227616	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:82227616C>G	ENST00000376552.2	+	5	1316	c.298C>G	c.(298-300)Cct>Gct	p.P100A	TLE4_ENST00000376537.4_Missense_Mutation_p.P100A|TLE4_ENST00000265284.6_Missense_Mutation_p.P100A|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Missense_Mutation_p.P100A|TLE4_ENST00000376520.4_Missense_Mutation_p.P100A|TLE4_ENST00000455913.1_3'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	100	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACAAGTCATTCCTTTCCTGTC	0.418																																						uc004ald.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(277-279)CCT>GCT		transducin-like enhancer protein 4							196.0	176.0	182.0					9																	82227616		1896	4121	6017	SO:0001583	missense	7091							g.chr9:82227616C>G	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.298C>G	9.37:g.82227616C>G	ENSP00000365735:p.Pro100Ala					TLE4_uc004alc.2_Missense_Mutation_p.P100A|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Missense_Mutation_p.P93A|TLE4_uc010mps.2_Missense_Mutation_p.P93A|TLE4_uc004alf.2_Missense_Mutation_p.P38A	p.P93A	NM_007005	NP_008936	O60756	BCE1_HUMAN			5	1126	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.277C>G	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271670	0.80469	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000414465;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713	T;T;T;T;T;T;T;T;T	0.69926	-0.2;-0.44;-0.41;0.17;2.35;-0.38;0.37;0.14;0.52	5.88	5.88	0.94601	Groucho/TLE, N-terminal Q-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.87830	0.6276	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	0.989;0.998;1.0;0.996	P;D;D;D	0.97110	0.89;0.969;1.0;0.976	D	0.89961	0.4086	10	0.66056	D	0.02	-13.0362	20.2279	0.98344	0.0:1.0:0.0:0.0	.	100;100;100;100	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	A	100;100;100;100;100;85;100;100;98;85	ENSP00000365735:P100A;ENSP00000365727:P100A;ENSP00000365703:P100A;ENSP00000415423:P100A;ENSP00000397822:P85A;ENSP00000365720:P100A;ENSP00000265284:P100A;ENSP00000412567:P98A;ENSP00000409313:P85A	ENSP00000265284:P100A	P	+	1	0	TLE4	81417436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.834000	0.75339	2.778000	0.95560	0.655000	0.94253	CCT		0.418	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		6	88	0	0	0	0	6	88				
SPATA31D1	389763	broad.mit.edu	37	9	84606461	84606461	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:84606461G>T	ENST00000344803.2	+	4	1123	c.1076G>T	c.(1075-1077)tGg>tTg	p.W359L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	359					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCACCTGGTGGCAGCCTCAT	0.478																																						uc004amn.2		NA																	0					0						c.(1075-1077)TGG>TTG		hypothetical protein LOC389763							142.0	128.0	132.0					9																	84606461		1907	4134	6041	SO:0001583	missense	389763					integral to membrane		g.chr9:84606461G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1076G>T	9.37:g.84606461G>T	ENSP00000341988:p.Trp359Leu						p.W359L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1123	+			359						Missense_Mutation	SNP	ENST00000344803.2	37	c.1076G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	8.583	0.882840	0.17467	.	.	ENSG00000214929	ENST00000344803	T	0.09723	2.95	2.5	0.465	0.16711	.	1.664960	0.03579	N	0.229820	T	0.25382	0.0617	M	0.80746	2.51	0.09310	N	1	P	0.37276	0.589	P	0.50378	0.639	T	0.20438	-1.0275	10	0.31617	T	0.26	2.3932	3.6226	0.08101	0.1587:0.2623:0.5789:0.0	.	359	Q6ZQQ2	F75D1_HUMAN	L	359	ENSP00000341988:W359L	ENSP00000341988:W359L	W	+	2	0	FAM75D1	83796281	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.031000	0.13710	0.127000	0.18452	0.650000	0.86243	TGG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		15	85	1	0	1.03e-11	2.08e-11	15	85				
GKAP1	80318	broad.mit.edu	37	9	86414160	86414160	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:86414160G>C	ENST00000376371.2	-	4	700	c.300C>G	c.(298-300)aaC>aaG	p.N100K	GKAP1_ENST00000376365.3_Missense_Mutation_p.N100K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	100					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TCTGTACTGGGTTTGACAATG	0.363																																						uc004amy.2		NA																	0					0						c.(298-300)AAC>AAG		G kinase anchoring protein 1 isoform a							230.0	222.0	225.0					9																	86414160		2203	4300	6503	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86414160G>C	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.300C>G	9.37:g.86414160G>C	ENSP00000365550:p.Asn100Lys					GKAP1_uc004amz.2_Missense_Mutation_p.N100K|GKAP1_uc011lsu.1_RNA	p.N100K	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN			4	796	-			100					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.300C>G	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912036	0.33721	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.29	-0.0776	0.13718	.	0.292234	0.42821	D	0.000658	T	0.13243	0.0321	N	0.01267	-0.92	0.36769	D	0.883718	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.24621	-1.0155	9	0.06891	T	0.86	1.082	5.9917	0.19470	0.4297:0.1296:0.4406:0.0	.	100;100	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	K	100	.	ENSP00000365544:N100K	N	-	3	2	GKAP1	85603980	0.898000	0.30612	0.998000	0.56505	0.996000	0.88848	0.163000	0.16520	0.060000	0.16281	0.655000	0.94253	AAC		0.363	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		35	134	0	0	0	0	35	134				
KIF27	55582	broad.mit.edu	37	9	86452160	86452160	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:86452160T>C	ENST00000297814.2	-	18	4105	c.3962A>G	c.(3961-3963)aAt>aGt	p.N1321S	KIF27_ENST00000413982.1_Missense_Mutation_p.N1255S|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.N1224S|RP11-575L7.2_ENST00000417672.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1321					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTCTGTTTTATTCTCATTACC	0.418																																						uc004ana.2		NA																	0				lung(4)|skin(1)	5						c.(3961-3963)AAT>AGT		kinesin family member 27							62.0	64.0	63.0					9																	86452160		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86452160T>C	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3962A>G	9.37:g.86452160T>C	ENSP00000297814:p.Asn1321Ser					KIF27_uc010mpw.2_Missense_Mutation_p.N1255S|KIF27_uc010mpx.2_Missense_Mutation_p.N1224S	p.N1321S	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			18	4106	-			1321					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3962A>G	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	4.605	0.112495	0.08831	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.69306	-0.39;-0.39;-0.27	3.8	2.64	0.31445	.	0.150771	0.29040	N	0.013338	T	0.41743	0.1172	N	0.08118	0	0.09310	N	0.999994	B;B;B	0.15930	0.003;0.015;0.009	B;B;B	0.13407	0.004;0.009;0.007	T	0.21895	-1.0232	10	0.24483	T	0.36	.	9.087	0.36587	0.0:0.0:0.1853:0.8147	.	1224;1255;1321	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	S	1321;1255;1224	ENSP00000297814:N1321S;ENSP00000401688:N1255S;ENSP00000333928:N1224S	ENSP00000297814:N1321S	N	-	2	0	KIF27	85641980	0.994000	0.37717	0.458000	0.27068	0.077000	0.17291	2.222000	0.42926	0.618000	0.30179	0.473000	0.43528	AAT		0.418	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		24	24	0	0	0	0	24	24				
SPATA31C1	441452	broad.mit.edu	37	9	90536023	90536023	+	RNA	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:90536023C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACCTGAAACTCAGCACCCTGA	0.498																																						uc010mqi.2		NA																	0					0						c.(1201-1203)CAG>TAG		family with sequence similarity 75, member C1							25.0	20.0	21.0					9																	90536023		692	1590	2282			441452							g.chr9:90536023C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536023C>T						FAM75C1_uc004apq.3_Nonsense_Mutation_p.Q384*	p.Q401*	NM_001145124	NP_001138596					4	1230	+									Nonsense_Mutation	SNP	ENST00000602681.1	37	c.1201C>T																																																																																					0.498	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		9	331	0	0	0	0	9	331				
ALDOB	229	broad.mit.edu	37	9	104187801	104187801	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:104187801T>A	ENST00000374855.4	-	7	857	c.733A>T	c.(733-735)Act>Tct	p.T245S	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	245					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGTTCTGGAGTATACTTCTTG	0.507																																						uc004bbk.2		NA																	0				skin(1)	1						c.(733-735)ACT>TCT		aldolase B, fructose-bisphosphate							271.0	206.0	228.0					9																	104187801		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104187801T>A	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.733A>T	9.37:g.104187801T>A	ENSP00000363988:p.Thr245Ser						p.T245S	NM_000035	NP_000026	P05062	ALDOB_HUMAN			7	815	-		Acute lymphoblastic leukemia(62;0.0559)	245					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.733A>T	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466258	0.26335	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.85556	-2.0	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);	0.041847	0.85682	N	0.000000	T	0.65801	0.2726	N	0.03154	-0.405	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.63642	-0.6591	10	0.07813	T	0.8	-20.3416	11.756	0.51875	0.0:0.0:0.1468:0.8531	.	245	P05062	ALDOB_HUMAN	S	245;172;245	ENSP00000363988:T245S	ENSP00000363986:T172S	T	-	1	0	ALDOB	103227622	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.884000	0.63135	2.323000	0.78572	0.528000	0.53228	ACT		0.507	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			22	78	0	0	0	0	22	78				
AKAP2	11217	broad.mit.edu	37	9	112899231	112899231	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:112899231A>G	ENST00000259318.7	+	2	921	c.714A>G	c.(712-714)gcA>gcG	p.A238A	AKAP2_ENST00000374525.1_Silent_p.A327A|PALM2-AKAP2_ENST00000302798.7_Silent_p.A469A|AKAP2_ENST00000510514.5_Silent_p.A469A|AKAP2_ENST00000434623.2_Silent_p.A327A|AKAP2_ENST00000555236.1_Silent_p.A469A|PALM2-AKAP2_ENST00000374530.3_Silent_p.A469A	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	238										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTGGCATTGCAGCAAAATGGT	0.522																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2101-2103)GCA>GCG		A kinase (PRKA) anchor protein 2 isoform 2							61.0	63.0	63.0					9																	112899231		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112899231A>G	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.714A>G	9.37:g.112899231A>G						PALM2-AKAP2_uc004bek.3_Silent_p.A469A|PALM2-AKAP2_uc004bej.3_Silent_p.A469A|PALM2-AKAP2_uc004bel.1_Silent_p.A279A|AKAP2_uc011lwi.1_Silent_p.A327A|AKAP2_uc004bem.2_Silent_p.A327A|PALM2-AKAP2_uc010mtw.1_Silent_p.A287A|AKAP2_uc011lwj.1_Silent_p.A238A|PALM2-AKAP2_uc004ben.2_Silent_p.A238A	p.A701A	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	2295	+			238			Potential.		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.2103A>G	CCDS48003.1																																																																																				0.522	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		12	39	0	0	0	0	12	39				
SVEP1	79987	broad.mit.edu	37	9	113208279	113208279	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:113208279C>G	ENST00000401783.2	-	26	4637	c.4301G>C	c.(4300-4302)gGc>gCc	p.G1434A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1434A|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1411A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1434	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCATAGATGCCAGAAACTTC	0.423																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(4300-4302)GGC>GCC		polydom							84.0	78.0	80.0					9																	113208279		1898	4136	6034	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208279C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4301G>C	9.37:g.113208279C>G	ENSP00000384917:p.Gly1434Ala					SVEP1_uc010mua.1_Missense_Mutation_p.G1434A	p.G1434A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			26	4638	-			1434			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4301G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889047	0.72524	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.79033	-0.52;-0.52;-1.23	5.5	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.88433	0.6435	M	0.83012	2.62	0.44539	D	0.997492	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88410	0.3021	10	0.36615	T	0.2	.	16.6872	0.85311	0.0:0.8702:0.1298:0.0	.	1434;1434	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	A	1434;1411;1434	ENSP00000384917:G1434A;ENSP00000363593:G1411A;ENSP00000304118:G1434A	ENSP00000304118:G1434A	G	-	2	0	SVEP1	112248100	1.000000	0.71417	0.987000	0.45799	0.574000	0.36063	4.630000	0.61297	1.438000	0.47492	0.655000	0.94253	GGC		0.423	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	28	0	0	0	0	4	28				
BRINP1	1620	broad.mit.edu	37	9	121976297	121976297	+	Silent	SNP	C	C	G	rs373574674		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:121976297C>G	ENST00000265922.3	-	6	1283	c.822G>C	c.(820-822)ccG>ccC	p.P274P	BRINP1_ENST00000373964.2_Silent_p.P274P	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	274					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											AGTTGCACTGCGGAAACTCCT	0.552																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(820-822)CCG>CCC		deleted in bladder cancer 1 precursor							130.0	113.0	119.0					9																	121976297		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121976297C>G	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.822G>C	9.37:g.121976297C>G						DBC1_uc004bkd.2_Silent_p.P274P	p.P274P	NM_014618	NP_055433	O60477	DBC1_HUMAN			6	1278	-			274					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.822G>C	CCDS6822.1																																																																																				0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		18	88	0	0	0	0	18	88				
BRINP1	1620	broad.mit.edu	37	9	122075438	122075438	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:122075438T>C	ENST00000265922.3	-	2	657	c.196A>G	c.(196-198)Aca>Gca	p.T66A	BRINP1_ENST00000373964.2_Missense_Mutation_p.T66A	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	66					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TATCTGGTTGTAAATCCTTGA	0.443																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(196-198)ACA>GCA		deleted in bladder cancer 1 precursor							65.0	63.0	63.0					9																	122075438		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075438T>C	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.196A>G	9.37:g.122075438T>C	ENSP00000265922:p.Thr66Ala					DBC1_uc004bkd.2_Missense_Mutation_p.T66A	p.T66A	NM_014618	NP_055433	O60477	DBC1_HUMAN			2	652	-			66					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.196A>G	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482916	0.44147	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.84223	-1.82;-1.82	5.26	5.26	0.73747	Membrane attack complex component/perforin (MACPF) domain (1);	0.048246	0.85682	D	0.000000	T	0.77143	0.4087	L	0.38175	1.15	0.54753	D	0.999982	B;B	0.32101	0.356;0.173	B;B	0.28011	0.074;0.085	T	0.76605	-0.2898	10	0.49607	T	0.09	-5.6772	10.4181	0.44333	0.1457:0.0:0.0:0.8543	.	66;66	O60477-2;O60477	.;DBC1_HUMAN	A	66	ENSP00000265922:T66A;ENSP00000363075:T66A	ENSP00000265922:T66A	T	-	1	0	DBC1	121115259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.725000	0.61979	2.002000	0.58637	0.459000	0.35465	ACA		0.443	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		5	31	0	0	0	0	5	31				
CNTRL	11064	broad.mit.edu	37	9	123930380	123930380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:123930380C>T	ENST00000373855.1	+	38	6111	c.5851C>T	c.(5851-5853)Cag>Tag	p.Q1951*	CNTRL_ENST00000373850.1_Nonsense_Mutation_p.Q1399*|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.Q1951*			Q7Z7A1	CNTRL_HUMAN	centriolin	1951	Required for centrosome localization.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TAAGATGTTTCAGAGACTCCA	0.378																																						uc004bkx.1		NA																	0					0						c.(5851-5853)CAG>TAG		centrosomal protein 110kDa							35.0	37.0	36.0					9																	123930380		2203	4300	6503	SO:0001587	stop_gained	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123930380C>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5851C>T	9.37:g.123930380C>T	ENSP00000362962:p.Gln1951*					CEP110_uc004blb.1_Nonsense_Mutation_p.Q620*|CEP110_uc010mvp.1_5'UTR	p.Q1951*	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			36	5882	+			1951			Required for centrosome localization.|Potential.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Nonsense_Mutation	SNP	ENST00000373855.1	37	c.5851C>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	C	39	7.564169	0.98361	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	8.3085	0.32058	0.1566:0.7663:0.0:0.0771	.	.	.	.	X	1951;1951;1951;707;133;1399;633	.	ENSP00000238341:Q1951X	Q	+	1	0	CNTRL	122970201	1.000000	0.71417	0.838000	0.33150	0.286000	0.27126	2.350000	0.44063	2.884000	0.98904	0.655000	0.94253	CAG		0.378	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		4	16	0	0	0	0	4	16				
RC3H2	54542	broad.mit.edu	37	9	125643074	125643074	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:125643074C>A	ENST00000373670.1	-	5	1360		c.e5-1		SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000423239.2_Splice_Site|RC3H2_ENST00000373665.2_Splice_Site|RC3H2_ENST00000357244.2_Splice_Site|RC3H2_ENST00000335387.5_Splice_Site			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGGTAACCTAAAAAATAG	0.388																																						uc010mwc.1		NA																	0				ovary(2)|lung(2)	4						c.e6-1		ring finger and CCCH-type zinc finger domains 2							63.0	58.0	60.0					9																	125643074		1863	4097	5960	SO:0001630	splice_region_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125643074C>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.760-1G>T	9.37:g.125643074C>A						RC3H2_uc004bnc.2_Splice_Site|RC3H2_uc004bnd.1_Splice_Site_p.V254_splice|RC3H2_uc004bne.3_Splice_Site_p.V254_splice|RC3H2_uc011lzf.1_Translation_Start_Site|RC3H2_uc011lzg.1_Splice_Site_p.V254_splice|SNORD90_uc004bnf.1_5'Flank	p.V254_splice	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			6	1001	-								Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Splice_Site	SNP	ENST00000373670.1	37	c.760_splice	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071649	0.55646	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6585	0.88184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RC3H2	124682895	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	7.776000	0.85560	2.503000	0.84419	0.561000	0.74099	.		0.388	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	Intron	4	23	1	0	0.00024832	0.000430885	4	23				
HSPA5	3309	broad.mit.edu	37	9	127998972	127998972	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:127998972C>T	ENST00000324460.6	-	8	2067	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	622					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCTTCCAGTTCCTTCTTCTTA	0.418										Prostate(1;0.17)																												uc004bpn.2		NA																	0				ovary(3)|skin(1)	4						c.(1864-1866)GAA>AAA		heat shock 70kDa protein 5	Antihemophilic Factor(DB00025)						106.0	100.0	102.0					9																	127998972		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127998972C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1864G>A	9.37:g.127998972C>T	ENSP00000324173:p.Glu622Lys	Prostate(1;0.17)					p.E622K	NM_005347	NP_005338	P11021	GRP78_HUMAN			8	2120	-			622					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1864G>A	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533861	0.45073	.	.	ENSG00000044574	ENST00000324460	T	0.18810	2.19	5.19	5.19	0.71726	.	0.107751	0.64402	D	0.000011	T	0.19846	0.0477	L	0.31664	0.95	0.58432	D	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.03344	-1.1046	10	0.87932	D	0	-20.9205	18.0542	0.89358	0.0:1.0:0.0:0.0	.	622	P11021	GRP78_HUMAN	K	622	ENSP00000324173:E622K	ENSP00000324173:E622K	E	-	1	0	HSPA5	127038793	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.879000	0.63100	2.587000	0.87381	0.585000	0.79938	GAA		0.418	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			32	47	0	0	0	0	32	47				
CDK9	1025	broad.mit.edu	37	9	130551532	130551532	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:130551532G>A	ENST00000373264.4	+	7	929	c.829G>A	c.(829-831)Gac>Aac	p.D277N	CDK9_ENST00000373265.2_Missense_Mutation_p.D394N	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			lung(1)	1						GAAGGTGAAGGACAGGCTGAA	0.602																																						uc004bse.2		NA																	0				lung(1)	1						c.(829-831)GAC>AAC		cyclin-dependent kinase 9							166.0	102.0	124.0					9																	130551532		2203	4300	6503	SO:0001583	missense	1025				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr9:130551532G>A	L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"""Cyclin-dependent kinases"""	1780	protein-coding gene	gene with protein product		603251	"""cyclin-dependent kinase 9 (CDC2-related kinase)"""	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.829G>A	9.37:g.130551532G>A	ENSP00000362361:p.Asp277Asn						p.D277N	NM_001261	NP_001252	P50750	CDK9_HUMAN			7	952	+			277			Protein kinase.		Q5JU24|Q5JU25|Q5U006|Q96TF1	Missense_Mutation	SNP	ENST00000373264.4	37	c.829G>A	CCDS6879.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111851	0.77210	.	.	ENSG00000136807	ENST00000373265;ENST00000373264	T;T	0.42900	0.96;0.96	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139519	0.64402	D	0.000005	T	0.38348	0.1037	L	0.37850	1.14	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.14924	-1.0455	10	0.56958	D	0.05	-15.1869	18.2021	0.89842	0.0:0.0:1.0:0.0	.	277	P50750	CDK9_HUMAN	N	394;277	ENSP00000362362:D394N;ENSP00000362361:D277N	ENSP00000362361:D277N	D	+	1	0	CDK9	129591353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.571000	0.98176	2.546000	0.85860	0.591000	0.81541	GAC		0.602	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054235.1			12	31	0	0	0	0	12	31				
PRRX2	51450	broad.mit.edu	37	9	132482945	132482945	+	Missense_Mutation	SNP	C	C	T	rs144448846		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:132482945C>T	ENST00000372469.4	+	3	745	c.518C>T	c.(517-519)tCg>tTg	p.S173L	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	173					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CGCTCTGCCTCGCTGCTCAAG	0.662																																						uc004byh.2		NA																	0				pancreas(1)	1						c.(517-519)TCG>TTG		paired related homeobox 2		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	53.0	58.0	56.0		518	5.4	1.0	9	dbSNP_134	56	0,8600		0,0,4300	no	missense	PRRX2	NM_016307.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	173/254	132482945	1,13005	2203	4300	6503	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132482945C>T	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.518C>T	9.37:g.132482945C>T	ENSP00000361547:p.Ser173Leu						p.S173L	NM_016307	NP_057391	Q99811	PRRX2_HUMAN			3	745	+		Ovarian(14;0.00556)	173					Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.518C>T	CCDS6926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.455533|3.455533	0.63401|0.63401	2.27E-4|2.27E-4	0.0|0.0	ENSG00000167157|ENSG00000167157	ENST00000557730|ENST00000372469	.|D	.|0.90444	.|-2.67	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Homeodomain-like (1);	.|0.218519	.|0.40728	.|N	.|0.001032	D|D	0.87418|0.87418	0.6172|0.6172	L|L	0.52573|0.52573	1.65|1.65	0.46701|0.46701	D|D	0.999161|0.999161	.|D	.|0.59357	.|0.985	.|B	.|0.39840	.|0.311	D|D	0.85970|0.85970	0.1476|0.1476	5|10	.|0.23302	.|T	.|0.38	.|.	18.5681|18.5681	0.91124|0.91124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|173	.|Q99811	.|PRRX2_HUMAN	C|L	88|173	.|ENSP00000361547:S173L	.|ENSP00000361547:S173L	R|S	+|+	1|2	0|0	PRRX2|PRRX2	131522766|131522766	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	5.264000|5.264000	0.65513|0.65513	2.709000|2.709000	0.92574|0.92574	0.561000|0.561000	0.74099|0.74099	CGC|TCG		0.662	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		17	96	0	0	0	0	17	96				
LAMC3	10319	broad.mit.edu	37	9	133945219	133945219	+	Silent	SNP	C	C	T	rs537864425		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:133945219C>T	ENST00000361069.4	+	17	3184	c.3051C>T	c.(3049-3051)taC>taT	p.Y1017Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1017	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGTCCTGCTACGCCCTGGTGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20022	0.0		0.0	False		,,,				2504	0.001					uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3049-3051)TAC>TAT		laminin, gamma 3 precursor							56.0	38.0	44.0					9																	133945219		2202	4298	6500	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133945219C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3051C>T	9.37:g.133945219C>T							p.Y1017Y	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	17	3149	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1017			Domain II and I.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.3051C>T	CCDS6938.1																																																																																				0.587	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	5	0	0	0	0	3	5				
NUP214	8021	broad.mit.edu	37	9	134073156	134073156	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073156C>G	ENST00000359428.5	+	29	4419	c.4275C>G	c.(4273-4275)atC>atG	p.I1425M	NUP214_ENST00000483497.2_Missense_Mutation_p.I251M|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000411637.2_Missense_Mutation_p.I1415M|NUP214_ENST00000451030.1_Missense_Mutation_p.I1426M			P35658	NU214_HUMAN	nucleoporin 214kDa	1425	11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTGGGGTCATCAGTTTTGGTG	0.537			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(4273-4275)ATC>ATG		nucleoporin 214kDa							96.0	94.0	95.0					9																	134073156		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073156C>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4275C>G	9.37:g.134073156C>G	ENSP00000352400:p.Ile1425Met					NUP214_uc004cah.2_Missense_Mutation_p.I1415M|NUP214_uc004cai.2_Missense_Mutation_p.I855M|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.I251M|NUP214_uc011mcf.1_Missense_Mutation_p.I202M|NUP214_uc010mzh.1_Translation_Start_Site|NUP214_uc010mzi.1_Translation_Start_Site	p.I1425M	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4386	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1425			Pro/Ser/Thr-rich.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4275C>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528288	0.44969	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.51071	1.43;1.44;1.45;0.85;0.72	5.35	-2.08	0.07254	.	0.974661	0.08376	N	0.955377	T	0.26846	0.0657	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.21225	0.053;0.053;0.029;0.006;0.006	B;B;B;B;B	0.18561	0.005;0.022;0.005;0.005;0.005	T	0.22208	-1.0223	10	0.33940	T	0.23	-0.9068	12.2066	0.54355	0.0:0.2941:0.6054:0.1006	.	251;854;1019;1415;1425	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	M	1425;1415;1426;1404;1019;854;251;202;202	ENSP00000352400:I1425M;ENSP00000396576:I1415M;ENSP00000405014:I1426M;ENSP00000436793:I251M;ENSP00000435364:I202M	ENSP00000352400:I1425M	I	+	3	3	NUP214	133062977	0.001000	0.12720	0.016000	0.15963	0.799000	0.45148	-0.375000	0.07475	-0.045000	0.13468	0.491000	0.48974	ATC		0.537	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		17	102	0	0	0	0	17	102				
NUP214	8021	broad.mit.edu	37	9	134073548	134073548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073548C>G	ENST00000359428.5	+	29	4811	c.4667C>G	c.(4666-4668)tCt>tGt	p.S1556C	NUP214_ENST00000483497.2_Missense_Mutation_p.S382C|NUP214_ENST00000411637.2_Missense_Mutation_p.S1546C|NUP214_ENST00000451030.1_Missense_Mutation_p.S1557C			P35658	NU214_HUMAN	nucleoporin 214kDa	1556	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACTGCAGCATCTAGTACTAGT	0.557			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(4666-4668)TCT>TGT		nucleoporin 214kDa							64.0	66.0	65.0					9																	134073548		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073548C>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4667C>G	9.37:g.134073548C>G	ENSP00000352400:p.Ser1556Cys					NUP214_uc004cah.2_Missense_Mutation_p.S1546C|NUP214_uc004cai.2_Missense_Mutation_p.S986C|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S382C|NUP214_uc011mcf.1_Missense_Mutation_p.S333C|NUP214_uc010mzh.1_Missense_Mutation_p.S70C|NUP214_uc010mzi.1_Missense_Mutation_p.S70C	p.S1556C	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4778	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1556			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4667C>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130752	0.77549	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.57595	1.3;1.25;1.31;0.7;0.39	5.44	5.44	0.79542	.	0.738585	0.11676	N	0.540316	T	0.53094	0.1775	N	0.08118	0	0.09310	N	1	D;D;D;D;D	0.67145	0.996;0.996;0.979;0.979;0.979	P;P;P;P;P	0.59288	0.855;0.847;0.639;0.639;0.639	T	0.58148	-0.7687	10	0.62326	D	0.03	-3.7242	17.8199	0.88647	0.0:1.0:0.0:0.0	.	382;985;1150;1546;1556	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	C	1556;1546;1557;1535;1150;985;382;333;333	ENSP00000352400:S1556C;ENSP00000396576:S1546C;ENSP00000405014:S1557C;ENSP00000436793:S382C;ENSP00000435364:S333C	ENSP00000352400:S1556C	S	+	2	0	NUP214	133063369	0.002000	0.14202	0.005000	0.12908	0.524000	0.34500	1.739000	0.38217	2.554000	0.86153	0.462000	0.41574	TCT		0.557	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		10	65	0	0	0	0	10	65				
NUP214	8021	broad.mit.edu	37	9	134073559	134073559	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:134073559C>A	ENST00000359428.5	+	29	4822	c.4678C>A	c.(4678-4680)Ctt>Att	p.L1560I	NUP214_ENST00000483497.2_Missense_Mutation_p.L386I|NUP214_ENST00000411637.2_Missense_Mutation_p.L1550I|NUP214_ENST00000451030.1_Missense_Mutation_p.L1561I			P35658	NU214_HUMAN	nucleoporin 214kDa	1560	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAGTACTAGTCTTGTAGCACT	0.562			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(4678-4680)CTT>ATT		nucleoporin 214kDa							64.0	66.0	65.0					9																	134073559		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134073559C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4678C>A	9.37:g.134073559C>A	ENSP00000352400:p.Leu1560Ile					NUP214_uc004cah.2_Missense_Mutation_p.L1550I|NUP214_uc004cai.2_Missense_Mutation_p.L990I|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.L386I|NUP214_uc011mcf.1_Missense_Mutation_p.L337I|NUP214_uc010mzh.1_Missense_Mutation_p.L74I|NUP214_uc010mzi.1_Missense_Mutation_p.L74I	p.L1560I	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	29	4789	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1560			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.4678C>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	8.859	0.946357	0.18356	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.47177	1.47;0.92;0.92;0.92;0.85	5.59	2.58	0.30949	.	1.104420	0.07073	N	0.835796	T	0.23210	0.0561	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.33171	0.4;0.4;0.4;0.122;0.248	B;B;B;B;B	0.30029	0.075;0.11;0.077;0.036;0.088	T	0.19353	-1.0308	10	0.13108	T	0.6	-3.7554	4.8902	0.13722	0.1359:0.5014:0.2839:0.0788	.	386;989;1154;1550;1560	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	I	1560;1550;1561;1539;1154;989;386;337;337	ENSP00000352400:L1560I;ENSP00000396576:L1550I;ENSP00000405014:L1561I;ENSP00000436793:L386I;ENSP00000435364:L337I	ENSP00000352400:L1560I	L	+	1	0	NUP214	133063380	0.000000	0.05858	0.014000	0.15608	0.074000	0.17049	0.166000	0.16583	0.691000	0.31592	0.462000	0.41574	CTT		0.562	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		9	63	1	0	5.49e-09	1.07e-08	9	63				
SEC16A	9919	broad.mit.edu	37	9	139371758	139371758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:139371758G>A	ENST00000313050.7	-	1	383	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000371706.3_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CAGGGTCCCTGAGAGCTATCT	0.592																																						uc004chx.2		NA																	0					0						c.(310-312)CAG>TAG		SEC16 homolog A							70.0	76.0	74.0					9																	139371758		2008	4173	6181	SO:0001587	stop_gained	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371758G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.310C>T	9.37:g.139371758G>A	ENSP00000325827:p.Gln104*					SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Nonsense_Mutation_p.Q104*|SEC16A_uc010nbn.2_Nonsense_Mutation_p.Q104*|SEC16A_uc010nbo.1_Nonsense_Mutation_p.Q104*	p.Q104*	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	619	-		Myeloproliferative disorder(178;0.0511)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000313050.7	37	c.310C>T	CCDS55351.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910810	0.72983	.	.	ENSG00000148396	ENST00000313050	.	.	.	5.15	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9896	0.64357	0.0:0.0:0.8426:0.1574	.	.	.	.	X	104	.	.	Q	-	1	0	SEC16A	138491579	0.042000	0.20092	0.005000	0.12908	0.188000	0.23474	2.246000	0.43142	1.254000	0.44035	0.655000	0.94253	CAG		0.592	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		11	93	0	0	0	0	11	93				
CSF2RA	1438	broad.mit.edu	37	X	1407736	1407736	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:1407736C>T	ENST00000381524.3	+	6	614	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000381500.1_Missense_Mutation_p.T143M|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000501036.2_Missense_Mutation_p.T10M|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T143M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T143M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T143M			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	143					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	AGGGGTCCGACGGCCCCCCGT	0.473													c|||	3	0.000599042	0.0008	0.0	5008	,	,		15400	0.0		0.001	False		,,,				2504	0.001				Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2		NA																	0				ovary(2)	2						c.(427-429)ACG>ATG		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)	C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	117.0	128.0	124.0		428,428,428,29,428,428,428,428,428	1.7	0.0	X		124	2,8590		0,2,4294	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161531.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	81,81,81,81,81,81,81,81,81	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	143/401,143/435,143/411,10/268,143/401,143/401,143/378,143/334,143/234	1407736	2,12996	2203	4296	6499	SO:0001583	missense	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407736C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.428C>T	X.37:g.1407736C>T	ENSP00000370935:p.Thr143Met					CSF2RA_uc011mhb.1_Missense_Mutation_p.T143M|CSF2RA_uc004cpq.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpn.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T143M|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.T10M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T143M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T143M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T143M	p.T143M	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			7	750	+		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)	143			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.428C>T	CCDS35191.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	.	12.38	1.919535	0.33908	0.0	2.33E-4	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	T;T;T;D;T;T;T;T;T;T;T;T	0.94931	0.51;0.51;0.51;-3.56;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	1.74	1.74	0.24563	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	1.230320	0.06540	U	0.742960	D	0.95421	0.8513	.	.	.	0.09310	N	1	D;D;P;D;D;D	0.76494	0.999;0.999;0.927;0.987;0.998;0.999	P;P;B;P;P;P	0.60012	0.854;0.867;0.328;0.554;0.731;0.761	D	0.86157	0.1591	9	0.48119	T	0.1	.	6.6818	0.23125	0.0:1.0:0.0:0.0	.	143;143;143;143;143;143	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	M	143;143;143;143;10;143;143;143;143;143;143;143;143	ENSP00000370940:T143M;ENSP00000416437:T143M;ENSP00000354836:T143M;ENSP00000440491:T10M;ENSP00000370935:T143M;ENSP00000410667:T143M;ENSP00000397452:T143M;ENSP00000370920:T143M;ENSP00000348058:T143M;ENSP00000347606:T143M;ENSP00000394227:T143M;ENSP00000370911:T143M	ENSP00000347606:T143M	T	+	2	0	CSF2RA	1367736	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	0.417000	0.21214	0.918000	0.36919	0.280000	0.19369	ACG		0.473	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			25	134	0	0	0	0	25	134				
WWC3	55841	broad.mit.edu	37	X	10092369	10092369	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:10092369G>T	ENST00000380861.4	+	13	2207	c.1816G>T	c.(1816-1818)Gtg>Ttg	p.V606L	WWC3_ENST00000454666.1_Missense_Mutation_p.V606L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	606					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAGATCCACGTGGGACTCCT	0.607																																						uc004csx.3		NA																	0				ovary(4)	4						c.(1816-1818)GTG>TTG		WWC family member 3							101.0	84.0	90.0					X																	10092369		2203	4300	6503	SO:0001583	missense	55841							g.chrX:10092369G>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1816G>T	X.37:g.10092369G>T	ENSP00000370242:p.Val606Leu					WWC3_uc010nds.2_Missense_Mutation_p.V270L|WWC3_uc010ndt.2_RNA	p.V606L	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			13	2014	+			606					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.1816G>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438454	0.25900	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.17054	2.3;2.3	5.21	5.21	0.72293	C2 calcium/lipid-binding domain, CaLB (1);	0.342681	0.30501	N	0.009495	T	0.21307	0.0513	M	0.61703	1.905	0.36003	D	0.837533	B	0.18610	0.029	B	0.21360	0.034	T	0.11542	-1.0583	9	.	.	.	-17.8059	16.1623	0.81730	0.0:0.0:1.0:0.0	.	606	Q9ULE0	WWC3_HUMAN	L	606;606;101	ENSP00000370242:V606L;ENSP00000399584:V606L	.	V	+	1	0	WWC3	10052369	1.000000	0.71417	0.159000	0.22649	0.206000	0.24218	4.801000	0.62532	2.183000	0.69458	0.513000	0.50165	GTG		0.607	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		23	43	1	0	9.96e-16	2.1e-15	23	43				
ARHGAP6	395	broad.mit.edu	37	X	11272776	11272776	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:11272776C>G	ENST00000337414.4	-	2	1512	c.640G>C	c.(640-642)Gtc>Ctc	p.V214L	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.V39L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.V246L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.V214L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.V23L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.V11L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.V11L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	214					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGGATGGGGACTGACCTCAGC	0.488																																						uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(640-642)GTC>CTC		Rho GTPase activating protein 6 isoform 1							55.0	54.0	55.0					X																	11272776		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11272776C>G	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.640G>C	X.37:g.11272776C>G	ENSP00000338967:p.Val214Leu					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.V214L|ARHGAP6_uc004cum.1_Missense_Mutation_p.V11L|ARHGAP6_uc004cun.1_Missense_Mutation_p.V34L|ARHGAP6_uc010neb.1_Missense_Mutation_p.V36L|ARHGAP6_uc011mif.1_Missense_Mutation_p.V11L	p.V214L	NM_013427	NP_038286	O43182	RHG06_HUMAN			2	1513	-			214					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.640G>C	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986025	0.93044	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.34072	1.62;1.38;1.38;1.54;1.6;1.55;1.68;1.75	4.94	4.94	0.65067	.	0.000000	0.46758	D	0.000270	T	0.57989	0.2091	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;1.0;0.999;1.0	D;D;D;D;D	0.83275	0.987;0.976;0.996;0.971;0.996	T	0.62186	-0.6907	10	0.72032	D	0.01	.	17.4048	0.87470	0.0:1.0:0.0:0.0	.	23;11;214;214;214	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	39;11;11;214;50;214;23;246	ENSP00000438135:V39L;ENSP00000370112:V11L;ENSP00000302312:V11L;ENSP00000338967:V214L;ENSP00000370093:V50L;ENSP00000370094:V214L;ENSP00000389394:V23L;ENSP00000370108:V246L	ENSP00000302312:V11L	V	-	1	0	ARHGAP6	11182697	1.000000	0.71417	0.918000	0.36340	0.987000	0.75469	7.019000	0.76412	2.035000	0.60131	0.600000	0.82982	GTC		0.488	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		9	88	0	0	0	0	9	88				
TLR8	51311	broad.mit.edu	37	X	12937728	12937728	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:12937728C>A	ENST00000218032.6	+	2	656	c.569C>A	c.(568-570)aCt>aAt	p.T190N	TLR8_ENST00000311912.5_Missense_Mutation_p.T208N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	190					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)	TGCGAGAAAACTAACATAGAA	0.358																																						uc004cve.2		NA																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(568-570)ACT>AAT		toll-like receptor 8 precursor							61.0	66.0	64.0					X																	12937728		2202	4298	6500	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:12937728C>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.569C>A	X.37:g.12937728C>A	ENSP00000218032:p.Thr190Asn					TLR8_uc004cvd.2_Missense_Mutation_p.T208N	p.T190N	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	637	+			190			Extracellular (Potential).|LRR 3.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.569C>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	1.672	-0.508807	0.04231	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.35236	1.32;1.49	4.93	0.345	0.16011	.	1.534180	0.04392	N	0.362506	T	0.27134	0.0665	L	0.28776	0.89	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.22800	-1.0206	10	0.39692	T	0.17	.	6.4493	0.21894	0.3803:0.4707:0.0:0.149	.	190;208	Q9NR97;D1CS70	TLR8_HUMAN;.	N	190;208	ENSP00000218032:T190N;ENSP00000312082:T208N	ENSP00000218032:T190N	T	+	2	0	TLR8	12847649	0.000000	0.05858	0.001000	0.08648	0.140000	0.21249	-0.238000	0.08977	0.023000	0.15187	-0.365000	0.07479	ACT		0.358	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		27	75	1	0	7.93e-12	1.61e-11	27	75				
AP1S2	8905	broad.mit.edu	37	X	15863569	15863569	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:15863569C>A	ENST00000329235.2	-	4	602	c.359G>T	c.(358-360)gGg>gTg	p.G120V	AP1S2_ENST00000545766.1_Missense_Mutation_p.G162V|AP1S2_ENST00000380291.1_Missense_Mutation_p.G120V|AP1S2_ENST00000421527.2_Missense_Mutation_p.G162V|AP1S2_ENST00000479184.1_5'UTR	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	120					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					CTGAACTTCCCCTCCCAAAAG	0.358																																						uc004cxi.2		NA																	0					0						c.(358-360)GGG>GTG		adaptor-related protein complex 1 sigma 2							79.0	74.0	75.0					X																	15863569		2203	4297	6500	SO:0001583	missense	8905				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity	g.chrX:15863569C>A	AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"""mental retardation, X-linked 59"", ""mental retardation, X-linked, syndromic 5"", ""Pettigrew X-linked mental retardation syndrome"""	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.359G>T	X.37:g.15863569C>A	ENSP00000328789:p.Gly120Val					AP1S2_uc004cxh.2_Missense_Mutation_p.G120V|AP1S2_uc010nex.2_Missense_Mutation_p.G162V|AP1S2_uc011mis.1_Missense_Mutation_p.G162V|AP1S2_uc011mit.1_Missense_Mutation_p.G162V|AP1S2_uc011miu.1_Missense_Mutation_p.G162V	p.G120V	NM_003916	NP_003907	P56377	AP1S2_HUMAN			4	649	-	Hepatocellular(33;0.183)		120					B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	ENST00000329235.2	37	c.359G>T	CCDS14173.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.3|27.3|27.3	4.822756|4.822756|4.822756	0.90873|0.90873|0.90873	.|.|.	.|.|.	ENSG00000182287|ENSG00000182287|ENSG00000182287	ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000450644|ENST00000452376	.|.|.	.|.|.	.|.|.	6.11|6.11|6.11	6.11|6.11|6.11	0.99139|0.99139|0.99139	Longin-like (1);AP complex, mu/sigma subunit (1);|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	D|D|D	0.92054|0.92054|0.92054	0.7482|0.7482|0.7482	H|H|H	0.99464|0.99464|0.99464	4.58|4.58|4.58	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D|.|.	0.97110|.|.	0.997;1.0;0.999;0.999;0.999;0.999|.|.	D|D|D	0.95168|0.95168|0.95168	0.8287|0.8287|0.8287	9|7|5	0.87932|0.87932|.	D|D|.	0|0|.	-9.5829|-9.5829|-9.5829	19.6089|19.6089|19.6089	0.95594|0.95594|0.95594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	120;162;162;120;120;117|.|.	B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.|.	.;.;.;.;AP1S2_HUMAN;.|.|.	V|W|S	120;120;162;162;117|113|116	.|.|.	ENSP00000328789:G120V|ENSP00000389474:G113W|.	G|G|R	-|-|-	2|1|3	0|0|2	AP1S2|AP1S2|AP1S2	15773490|15773490|15773490	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.587000|2.587000|2.587000	0.87381|0.87381|0.87381	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	GGG|GGG|AGG		0.358	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055893.1	NM_003916		21	73	1	0	5.35e-06	9.8e-06	21	73				
NHS	4810	broad.mit.edu	37	X	17746379	17746379	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:17746379G>T	ENST00000380060.3	+	6	4428	c.4090G>T	c.(4090-4092)Gcc>Tcc	p.A1364S	NHS_ENST00000398097.3_Missense_Mutation_p.A1208S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1385					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGTATTTCAGCCAAAAGTGC	0.403																																						uc004cxx.2		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(4090-4092)GCC>TCC		Nance-Horan syndrome protein isoform 1							57.0	55.0	56.0					X																	17746379		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17746379G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4090G>T	X.37:g.17746379G>T	ENSP00000369400:p.Ala1364Ser					NHS_uc011mix.1_Missense_Mutation_p.A1385S|NHS_uc004cxy.2_Missense_Mutation_p.A1208S|NHS_uc004cxz.2_Missense_Mutation_p.A1187S|NHS_uc004cya.2_Missense_Mutation_p.A1087S	p.A1364S	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	4428	+	Hepatocellular(33;0.183)		1364					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4090G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764676	0.31228	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.43688	0.94;0.96	5.74	3.66	0.41972	.	0.343688	0.32687	N	0.005778	T	0.22975	0.0555	L	0.29908	0.895	0.28335	N	0.921604	B;B;B;B	0.22683	0.073;0.073;0.073;0.008	B;B;B;B	0.27380	0.079;0.079;0.079;0.019	T	0.29761	-1.0001	10	0.02654	T	1	-9.3762	4.1564	0.10263	0.2819:0.2685:0.4496:0.0	.	1385;1206;1208;1364	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	1364;1208;1206	ENSP00000369400:A1364S;ENSP00000381170:A1208S	ENSP00000369397:A1206S	A	+	1	0	NHS	17656300	0.978000	0.34361	1.000000	0.80357	0.990000	0.78478	1.171000	0.31896	1.185000	0.42971	0.600000	0.82982	GCC		0.403	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		17	36	1	0	5.39e-06	9.86e-06	17	36				
BEND2	139105	broad.mit.edu	37	X	18221663	18221663	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18221663G>T	ENST00000380033.4	-	5	997	c.865C>A	c.(865-867)Cca>Aca	p.P289T	BEND2_ENST00000380030.3_Missense_Mutation_p.P289T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	289										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCTCTACCTGGGCCCACATTT	0.418																																						uc004cyj.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(865-867)CCA>ACA		BEN domain containing 2							112.0	104.0	107.0					X																	18221663		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18221663G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.865C>A	X.37:g.18221663G>T	ENSP00000369372:p.Pro289Thr					BEND2_uc010nfb.2_Missense_Mutation_p.P289T	p.P289T	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			5	1019	-			289					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.865C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	0.295	-0.977263	0.02197	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26660	1.82;1.72	3.93	3.01	0.34805	.	.	.	.	.	T	0.16214	0.0390	N	0.24115	0.695	0.09310	N	1	P;P	0.37864	0.61;0.478	B;B	0.34824	0.19;0.035	T	0.11470	-1.0586	9	0.62326	D	0.03	0.0251	7.7769	0.29043	0.0:0.0:0.7131:0.2869	.	289;289	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	T	289	ENSP00000369372:P289T;ENSP00000369369:P289T	ENSP00000369369:P289T	P	-	1	0	BEND2	18131584	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.035000	0.13797	0.730000	0.32425	0.436000	0.28706	CCA		0.418	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		28	95	1	0	9.39e-14	1.95e-13	28	95				
RS1	6247	broad.mit.edu	37	X	18660202	18660202	+	Silent	SNP	G	G	T	rs200052722		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18660202G>T	ENST00000379984.3	-	6	637	c.597C>A	c.(595-597)atC>atA	p.I199I	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	199	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		I -> T (in XLRS1).		adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GGATGAGGCGGATGAAGCGGG	0.617																																						uc004cyo.2		NA																	0				ovary(2)	2						c.(595-597)ATC>ATA		X-linked juvenile retinoschisis protein		G	,,	0,3835		0,0,1632,571	72.0	65.0	68.0		597,,	2.9	1.0	X		68	1,6727		0,1,2427,1872	no	coding-synonymous,intron,intron	RS1,CDKL5	NM_000330.3,NM_001037343.1,NM_003159.2	,,	0,1,4059,2443	TT,TG,GG,G		0.0149,0.0,0.0095	,,	199/225,,	18660202	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660202G>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.597C>A	X.37:g.18660202G>T						CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	p.I199I	NM_000330	NP_000321	O15537	XLRS1_HUMAN			6	632	-	Hepatocellular(33;0.183)		199		I -> T (in XLRS1).	F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.597C>A	CCDS14187.1																																																																																				0.617	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			22	72	1	0	7.88e-14	1.64e-13	22	72				
PPEF1	5475	broad.mit.edu	37	X	18842187	18842187	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:18842187G>A	ENST00000361511.4	+	17	2142	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	PPEF1_ENST00000359763.6_Missense_Mutation_p.E497K|PPEF1_ENST00000544635.1_Missense_Mutation_p.E485K|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.E488K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	550					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TATCCGCATTGAAAAACCTGT	0.463																																						uc004cyq.2		NA																	0					0						c.(1648-1650)GAA>AAA		protein phosphatase with EF hand calcium-binding							104.0	89.0	94.0					X																	18842187		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18842187G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1648G>A	X.37:g.18842187G>A	ENSP00000354871:p.Glu550Lys					PPEF1_uc004cyp.2_Missense_Mutation_p.E522K|PPEF1_uc004cyr.2_Missense_Mutation_p.E488K|PPEF1_uc004cys.2_Missense_Mutation_p.E550K|PPEF1_uc011mja.1_Missense_Mutation_p.E485K|PPEF1_uc011mjb.1_Missense_Mutation_p.E494K	p.E550K	NM_006240	NP_006231	O14829	PPE1_HUMAN			17	2129	+	Hepatocellular(33;0.183)		550					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1648G>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988217	0.18966	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.2	3.33	0.38152	.	1.681740	0.02951	N	0.141693	T	0.29158	0.0725	L	0.33245	0.995	0.09310	N	1	B;B;P	0.38078	0.386;0.323;0.617	B;B;B	0.30855	0.085;0.079;0.121	T	0.20371	-1.0277	10	0.12430	T	0.62	-5.4647	6.7829	0.23657	0.1951:0.4337:0.3712:0.0	.	488;550;522	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	K	550;497;488;485	ENSP00000354871:E550K;ENSP00000352806:E497K;ENSP00000341892:E488K;ENSP00000441289:E485K	ENSP00000341892:E488K	E	+	1	0	PPEF1	18752108	0.005000	0.15991	0.090000	0.20809	0.110000	0.19582	-0.065000	0.11617	1.105000	0.41606	0.600000	0.82982	GAA		0.463	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		9	56	0	0	0	0	9	56				
MAP3K15	389840	broad.mit.edu	37	X	19475138	19475138	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:19475138C>A	ENST00000338883.4	-	6	888		c.e6-1		MAP3K15_ENST00000359173.3_Splice_Site|MAP3K15_ENST00000469203.2_Splice_Site|MAP3K15_ENST00000518578.1_Splice_Site	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15								ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CATCATAGTCCTGTTGGCAAG	0.458																																						uc004czk.1		NA																	0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.e5-1		mitogen-activated protein kinase kinase kinase							102.0	75.0	83.0					X																	19475138		1568	3582	5150	SO:0001630	splice_region_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19475138C>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.889-1G>T	X.37:g.19475138C>A						MAP3K15_uc004czj.1_Splice_Site		NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			5	780	-	Hepatocellular(33;0.183)							A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Splice_Site	SNP	ENST00000338883.4	37	c.-857_splice		.	.	.	.	.	.	.	.	.	.	C	22.3	4.278166	0.80692	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.465	0.90751	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K15	19385059	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.309000	0.78937	2.388000	0.81334	0.416000	0.27883	.		0.458	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	Intron	6	25	1	0	2.01e-06	3.72e-06	6	25				
SH3KBP1	30011	broad.mit.edu	37	X	19854368	19854368	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:19854368G>T	ENST00000397821.3	-	2	327	c.37C>A	c.(37-39)Cag>Aag	p.Q13K	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.Q13K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	13	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCATCGTGCTGGGCCTGGTAG	0.532																																						uc004czm.2		NA																	0					0						c.(37-39)CAG>AAG		SH3-domain kinase binding protein 1 isoform a							167.0	131.0	143.0					X																	19854368		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19854368G>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.37C>A	X.37:g.19854368G>T	ENSP00000380921:p.Gln13Lys						p.Q13K	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN			2	353	-			13			SH3 1.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.37C>A	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914243	0.92178	.	.	ENSG00000147010	ENST00000397821;ENST00000379697	T;T	0.40476	1.03;1.03	5.71	5.71	0.89125	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.31845	0.965	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.35475	-0.9787	10	0.02654	T	1	-10.2779	18.8099	0.92054	0.0:0.0:1.0:0.0	.	13	Q96B97	SH3K1_HUMAN	K	13	ENSP00000380921:Q13K;ENSP00000369019:Q13K	ENSP00000369019:Q13K	Q	-	1	0	SH3KBP1	19764289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.388000	0.81334	0.513000	0.50165	CAG		0.532	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		44	110	1	0	1.32e-16	2.79e-16	44	110				
KLHL34	257240	broad.mit.edu	37	X	21675204	21675204	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:21675204G>T	ENST00000379499.2	-	1	1244	c.703C>A	c.(703-705)Cgc>Agc	p.R235S		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	235	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GAGTACACGCGCCGCAGTACG	0.667																																						uc004czz.1		NA																	0				ovary(1)	1						c.(703-705)CGC>AGC		kelch-like 34							17.0	17.0	17.0					X																	21675204		2197	4287	6484	SO:0001583	missense	257240							g.chrX:21675204G>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.703C>A	X.37:g.21675204G>T	ENSP00000368813:p.Arg235Ser						p.R235S	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1245	-			235			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.703C>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	5.492	0.275765	0.10403	.	.	ENSG00000185915	ENST00000379499	T	0.68479	-0.33	4.65	4.65	0.58169	BTB/Kelch-associated (2);	0.494011	0.20902	N	0.083623	T	0.51415	0.1673	L	0.29908	0.895	0.09310	N	1	B	0.30937	0.301	B	0.34779	0.189	T	0.37641	-0.9697	10	0.10377	T	0.69	.	9.9091	0.41394	0.0:0.0:0.6205:0.3795	.	235	Q8N239	KLH34_HUMAN	S	235	ENSP00000368813:R235S	ENSP00000368813:R235S	R	-	1	0	KLHL34	21585125	0.999000	0.42202	0.997000	0.53966	0.208000	0.24298	4.527000	0.60573	2.145000	0.66743	0.422000	0.28245	CGC		0.667	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		36	32	1	0	6.2e-25	1.33e-24	36	32				
YY2	404281	broad.mit.edu	37	X	21875297	21875297	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:21875297C>T	ENST00000429584.2	+	1	1193	c.695C>T	c.(694-696)cCt>cTt	p.P232L	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CTCTCAGATCCTAAACAGCTG	0.483																																						uc011mjp.1		NA																	0				breast(1)|skin(1)	2						c.(694-696)CCT>CTT		YY2 transcription factor							121.0	134.0	130.0					X																	21875297		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875297C>T	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.695C>T	X.37:g.21875297C>T	ENSP00000389381:p.Pro232Leu					MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.P450L|MBTPS2_uc004dab.2_Intron	p.P232L	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	695	+			232					B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.695C>T	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963534	0.53507	.	.	ENSG00000230797	ENST00000429584	T	0.13307	2.6	4.77	3.9	0.45041	.	0.000000	0.85682	U	0.000000	T	0.33352	0.0860	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04593	-1.0940	10	0.72032	D	0.01	.	9.8091	0.40812	0.0:0.8975:0.0:0.1025	.	232	O15391	TYY2_HUMAN	L	232	ENSP00000389381:P232L	ENSP00000389381:P232L	P	+	2	0	YY2	21785218	1.000000	0.71417	0.993000	0.49108	0.142000	0.21351	3.572000	0.53849	1.141000	0.42275	0.600000	0.82982	CCT		0.483	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		179	219	0	0	0	0	179	219				
ACOT9	23597	broad.mit.edu	37	X	23749058	23749058	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:23749058G>A	ENST00000336430.7	-	4	341	c.210C>T	c.(208-210)ttC>ttT	p.F70F	ACOT9_ENST00000379295.1_Silent_p.F10F|ACOT9_ENST00000492081.1_Silent_p.F10F|ACOT9_ENST00000379303.5_Silent_p.F79F	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	70					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATTTAGCCAAGAAACTATGAA	0.418																																						uc004dap.2		NA																	0				ovary(2)|pancreas(1)	3						c.(208-210)TTC>TTT		acyl-Coenzyme A thioesterase 2, mitochondrial							108.0	89.0	95.0					X																	23749058		2203	4300	6503	SO:0001819	synonymous_variant	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23749058G>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.210C>T	X.37:g.23749058G>A						ACOT9_uc004dao.2_Silent_p.F79F|ACOT9_uc004daq.2_Silent_p.F28F|ACOT9_uc004dar.2_Silent_p.F10F|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.F10F|ACOT9_uc004dat.1_Silent_p.F70F	p.F70F	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN			4	356	-			70					B3KNC9|B7ZM94	Silent	SNP	ENST00000336430.7	37	c.210C>T	CCDS35216.1																																																																																				0.418	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		7	138	0	0	0	0	7	138				
POLA1	5422	broad.mit.edu	37	X	24742495	24742495	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:24742495C>T	ENST00000379059.3	+	12	1241	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	POLA1_ENST00000379068.3_Missense_Mutation_p.S415L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	409					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ACTCCAATTTCAATGAAGGAT	0.328																																						uc004dbl.2		NA																	0				ovary(2)|skin(1)	3						c.(1225-1227)TCA>TTA		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						59.0	56.0	57.0					X																	24742495		2203	4299	6502	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24742495C>T		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1226C>T	X.37:g.24742495C>T	ENSP00000368349:p.Ser409Leu					POLA1_uc004dbm.2_Missense_Mutation_p.S415L|POLA1_uc004dbn.2_Missense_Mutation_p.S273L	p.S409L	NM_016937	NP_058633	P09884	DPOLA_HUMAN			12	1249	+			409					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.1226C>T	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589455	0.46214	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	D;D	0.84298	-1.83;-1.83	5.1	4.23	0.50019	DNA-directed DNA polymerase, family B, exonuclease domain (1);	0.417864	0.28544	N	0.014971	T	0.78317	0.4264	L	0.28274	0.84	0.28482	N	0.914913	B;B	0.26318	0.146;0.064	B;B	0.29176	0.099;0.077	T	0.71076	-0.4697	10	0.44086	T	0.13	-2.406	14.7813	0.69769	0.0:0.8588:0.1412:0.0	.	415;409	A6NMQ1;P09884	.;DPOLA_HUMAN	L	415;409	ENSP00000368358:S415L;ENSP00000368349:S409L	ENSP00000368349:S409L	S	+	2	0	POLA1	24652416	0.992000	0.36948	0.997000	0.53966	0.932000	0.56968	1.850000	0.39328	1.127000	0.42034	0.538000	0.68166	TCA		0.328	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		7	69	0	0	0	0	7	69				
MAGEB6	158809	broad.mit.edu	37	X	26212208	26212208	+	Missense_Mutation	SNP	C	C	A	rs138482118	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:26212208C>A	ENST00000379034.1	+	2	394	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	82	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TATTCAAAATCCGATGTGGCT	0.542																																						uc004dbr.2		NA																	0				ovary(3)	3						c.(244-246)TCC>TAC		melanoma antigen family B, 6							91.0	86.0	88.0					X																	26212208		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212208C>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.245C>A	X.37:g.26212208C>A	ENSP00000368320:p.Ser82Tyr					MAGEB6_uc010ngc.1_5'UTR	p.S82Y	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	394	+			82			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.245C>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	c	10.37	1.332043	0.24167	.	.	ENSG00000176746	ENST00000379034	T	0.09073	3.02	1.83	0.831	0.18860	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.09512	0.0234	M	0.72118	2.19	0.09310	N	1	B	0.28605	0.217	B	0.23852	0.049	T	0.25502	-1.0130	9	0.52906	T	0.07	.	4.6381	0.12534	0.3716:0.6284:0.0:0.0	.	82	Q8N7X4	MAGB6_HUMAN	Y	82	ENSP00000368320:S82Y	ENSP00000368320:S82Y	S	+	2	0	MAGEB6	26122129	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.002000	0.13061	0.170000	0.19704	0.429000	0.28392	TCC		0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		22	70	1	0	1.96e-10	3.91e-10	22	70				
DCAF8L2	347442	broad.mit.edu	37	X	27766844	27766844	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:27766844C>G	ENST00000451261.2	+	5	2231	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	611										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TCGGATGAGTCTTCCAGCACT	0.527																																						uc011mjy.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1831-1833)TCT>TGT		DDB1 and CUL4 associated factor 8-like 2							39.0	30.0	32.0					X																	27766844		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766844C>G		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1832C>G	X.37:g.27766844C>G	ENSP00000462745:p.Ser611Cys						p.S611C	NM_001136533	NP_001130005					1	1919	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1832C>G	CCDS59162.1																																																																																				0.527	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		6	16	0	0	0	0	6	16				
MAGEB3	4114	broad.mit.edu	37	X	30254265	30254265	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30254265T>C	ENST00000361644.2	+	5	961	c.224T>C	c.(223-225)gTa>gCa	p.V75A		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	75										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ACTACATCTGTAGATGTTTCT	0.458																																						uc004dca.1		NA																	0					0						c.(223-225)GTA>GCA		melanoma antigen family B, 3							29.0	26.0	27.0					X																	30254265		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254265T>C	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.224T>C	X.37:g.30254265T>C	ENSP00000355198:p.Val75Ala						p.V75A	NM_002365	NP_002356	O15480	MAGB3_HUMAN			5	961	+			75					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.224T>C	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.710506	0.00712	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.03860	3.78;3.78	3.96	-7.93	0.01156	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.00936	0.0031	N	0.00873	-1.125	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.35500	-0.9786	9	0.02654	T	1	.	1.2456	0.01972	0.3267:0.3338:0.1107:0.2288	.	75	O15480	MAGB3_HUMAN	A	75	ENSP00000368271:V75A;ENSP00000355198:V75A	ENSP00000355198:V75A	V	+	2	0	MAGEB3	30164186	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.283000	0.01155	-2.372000	0.00601	-1.277000	0.01392	GTA		0.458	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		5	17	0	0	0	0	5	17				
MAGEB1	4112	broad.mit.edu	37	X	30269583	30269583	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30269583C>A	ENST00000378981.3	+	4	1294	c.973C>A	c.(973-975)Cgt>Agt	p.R325S	MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325S|MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325								p.R325C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527																																						uc004dcc.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(973-975)CGT>AGT		melanoma antigen family B, 1							89.0	78.0	82.0					X																	30269583		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269583C>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.973C>A	X.37:g.30269583C>A	ENSP00000368264:p.Arg325Ser					MAGEB1_uc004dcd.2_Missense_Mutation_p.R325S|MAGEB1_uc004dce.2_Missense_Mutation_p.R325S	p.R325S	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1293	+			325					B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.973C>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	1.201	-0.632546	0.03584	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01505	4.82;4.82;4.82	3.55	-1.44	0.08856	.	2.591500	0.02042	N	0.049376	T	0.01092	0.0036	N	0.11064	0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42515	-0.9447	10	0.05436	T	0.98	.	5.491	0.16777	0.0:0.3987:0.2058:0.3955	.	325	P43366	MAGB1_HUMAN	S	325	ENSP00000368264:R325S;ENSP00000380683:R325S;ENSP00000380681:R325S	ENSP00000368264:R325S	R	+	1	0	MAGEB1	30179504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.869000	0.01643	-0.535000	0.06307	-0.322000	0.08575	CGT		0.527	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		19	76	1	0	4.97e-08	9.51e-08	19	76				
GK	2710	broad.mit.edu	37	X	30738843	30738843	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30738843C>A	ENST00000378943.3	+	16	1503	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M	GK_ENST00000427190.1_Missense_Mutation_p.L243M|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.L448M|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.L442M	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	448					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						AGCAGACATTCTGTATATACC	0.398																																						uc004dch.3		NA																	0				central_nervous_system(1)	1						c.(1342-1344)CTG>ATG		glycerol kinase isoform a							114.0	107.0	109.0					X																	30738843		2202	4300	6502	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30738843C>A	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1324C>A	X.37:g.30738843C>A	ENSP00000368226:p.Leu442Met					GK_uc010ngj.2_Missense_Mutation_p.L442M|GK_uc004dci.3_Missense_Mutation_p.L442M|GK_uc011mjz.1_Missense_Mutation_p.L243M|GK_uc011mka.1_Missense_Mutation_p.L285M|GK_uc010ngk.2_Missense_Mutation_p.L237M	p.L448M	NM_203391	NP_976325	P32189	GLPK_HUMAN			17	1521	+			448					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.1342C>A	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398876	0.83120	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432;ENST00000378938	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.49	5.49	0.81192	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	M	0.86573	2.825	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.95561	0.8629	10	0.59425	D	0.04	.	18.6129	0.91293	0.0:1.0:0.0:0.0	.	285;448;442;442;448	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	M	448;442;448;442;243;285;37	ENSP00000368229:L448M;ENSP00000368226:L442M;ENSP00000368228:L442M;ENSP00000401720:L243M;ENSP00000368221:L37M	ENSP00000368221:L37M	L	+	1	2	GK	30648764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.426000	0.82243	0.600000	0.82982	CTG		0.398	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		32	86	1	0	3.04e-20	6.47e-20	32	86				
TAB3	257397	broad.mit.edu	37	X	30872655	30872655	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:30872655G>T	ENST00000378933.1	-	3	1304	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	TAB3_ENST00000378930.3_Missense_Mutation_p.P376H|TAB3_ENST00000288422.2_Missense_Mutation_p.P376H|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.P376H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	376	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGCTGTCCCAGGTCTTTGAGA	0.438																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NA																	0				ovary(1)	1						c.(1126-1128)CCT>CAT		mitogen-activated protein kinase kinase kinase 7							199.0	167.0	178.0					X																	30872655		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872655G>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1127C>A	X.37:g.30872655G>T	ENSP00000368215:p.Pro376His					TAB3_uc004dck.2_Missense_Mutation_p.P376H|TAB3_uc010ngl.2_Missense_Mutation_p.P376H	p.P376H	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1790	-			376			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.1127C>A	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329659	0.41297	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.71	4.56	4.56	0.56223	.	0.066711	0.64402	D	0.000007	T	0.68787	0.3039	L	0.27053	0.805	0.49798	D	0.99982	P;B	0.49447	0.924;0.07	P;B	0.51135	0.66;0.123	T	0.73241	-0.4045	10	0.56958	D	0.05	-3.8653	16.8336	0.85951	0.0:0.0:1.0:0.0	.	376;376	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	H	376	ENSP00000368215:P376H;ENSP00000368212:P376H;ENSP00000288422:P376H;ENSP00000368214:P376H	ENSP00000288422:P376H	P	-	2	0	TAB3	30782576	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.563000	0.67352	2.238000	0.73509	0.526000	0.51066	CCT		0.438	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		30	116	1	0	5.6e-13	1.16e-12	30	116				
DMD	1756	broad.mit.edu	37	X	31792249	31792249	+	Missense_Mutation	SNP	G	G	T	rs182761135		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:31792249G>T	ENST00000357033.4	-	51	7576	c.7370C>A	c.(7369-7371)tCc>tAc	p.S2457Y	DMD_ENST00000378677.2_Missense_Mutation_p.S2453Y|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2457					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTAGTTTGGAGATGGCAGT	0.433																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(7369-7371)TCC>TAC		dystrophin Dp427m isoform							84.0	69.0	74.0					X																	31792249		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31792249G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7370C>A	X.37:g.31792249G>T	ENSP00000354923:p.Ser2457Tyr					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.S1113Y|DMD_uc004dcx.2_Missense_Mutation_p.S1116Y|DMD_uc004dcz.2_Missense_Mutation_p.S2334Y|DMD_uc004dcy.1_Missense_Mutation_p.S2453Y|DMD_uc004ddb.1_Missense_Mutation_p.S2449Y|DMD_uc004ddd.1_5'UTR	p.S2457Y	NM_004006	NP_003997	P11532	DMD_HUMAN			51	7614	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2457					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.7370C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289611	0.40494	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.62788	3.88;-0.0;-0.0	5.08	3.26	0.37387	.	0.418090	0.17281	U	0.180004	T	0.62405	0.2425	L	0.29908	0.895	0.80722	D	1	D;B;B;B;B	0.57899	0.981;0.139;0.139;0.362;0.08	D;B;B;B;B	0.64410	0.925;0.025;0.025;0.06;0.025	T	0.55276	-0.8166	10	0.33940	T	0.23	.	6.7725	0.23601	0.178:0.1443:0.6777:0.0	.	2449;2457;2453;1116;1113	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Y	2449;1116;1113;153;2453;2457;2457;2334	ENSP00000350765:S153Y;ENSP00000367948:S2453Y;ENSP00000354923:S2457Y	ENSP00000354923:S2457Y	S	-	2	0	DMD	31702170	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.074000	0.41529	0.358000	0.24211	0.594000	0.82650	TCC		0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	55	1	0	2.46e-09	4.83e-09	17	55				
FAM47A	158724	broad.mit.edu	37	X	34149176	34149176	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:34149176C>G	ENST00000346193.3	-	1	1271	c.1220G>C	c.(1219-1221)gGa>gCa	p.G407A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	407										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						ATGGCACACTCCAGTCTTGGG	0.567																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1219-1221)GGA>GCA		hypothetical protein LOC158724							45.0	45.0	45.0					X																	34149176		2200	4298	6498	SO:0001583	missense	158724							g.chrX:34149176C>G	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.1220G>C	X.37:g.34149176C>G	ENSP00000345029:p.Gly407Ala						p.G407A	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1253	-			407					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1220G>C	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	0.015	-1.565803	0.00903	.	.	ENSG00000185448	ENST00000346193	T	0.14391	2.51	0.226	-0.452	0.12205	.	.	.	.	.	T	0.10423	0.0255	L	0.55990	1.75	0.09310	N	1	B	0.33022	0.394	B	0.34652	0.187	T	0.39333	-0.9619	8	0.09338	T	0.73	.	.	.	.	.	407	Q5JRC9	FA47A_HUMAN	A	407	ENSP00000345029:G407A	ENSP00000345029:G407A	G	-	2	0	FAM47A	34059097	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-0.741000	0.04797	-0.729000	0.03580	GGA		0.567	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		16	75	0	0	0	0	16	75				
FAM47B	170062	broad.mit.edu	37	X	34962278	34962278	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:34962278C>T	ENST00000329357.5	+	1	1366	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	444										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAAGATACACCAAGCACAAT	0.512																																						uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(1330-1332)CCA>TCA		hypothetical protein LOC170062							129.0	112.0	118.0					X																	34962278		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962278C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1330C>T	X.37:g.34962278C>T	ENSP00000328307:p.Pro444Ser						p.P444S	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1348	+			444					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1330C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	3.315	-0.139972	0.06669	.	.	ENSG00000189132	ENST00000329357	T	0.15256	2.44	0.502	0.502	0.16932	.	.	.	.	.	T	0.11024	0.0269	L	0.35341	1.055	0.09310	N	1	B	0.22003	0.063	B	0.17979	0.02	T	0.35475	-0.9787	8	0.21540	T	0.41	.	.	.	.	.	444	Q8NA70	FA47B_HUMAN	S	444	ENSP00000328307:P444S	ENSP00000328307:P444S	P	+	1	0	FAM47B	34872199	0.015000	0.18098	0.001000	0.08648	0.065000	0.16274	-0.643000	0.05421	0.479000	0.27511	0.292000	0.19580	CCA		0.512	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		17	93	0	0	0	0	17	93				
HYPM	25763	broad.mit.edu	37	X	37850395	37850395	+	Missense_Mutation	SNP	T	T	A	rs375020994		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:37850395T>A	ENST00000341016.3	+	1	326	c.303T>A	c.(301-303)gaT>gaA	p.D101E	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		101										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						CTGAGAGTGATGTGACTCGCT	0.527																																						uc004ddt.3		NA																	0				central_nervous_system(1)	1						c.(301-303)GAT>GAA		Huntingtin interacting protein M							95.0	100.0	98.0					X																	37850395		2125	4204	6329	SO:0001583	missense	25763						DNA binding	g.chrX:37850395T>A																												ENST00000341016.3:c.303T>A	X.37:g.37850395T>A	ENSP00000339511:p.Asp101Glu						p.D101E	NM_012274	NP_036406	O75409	HYPM_HUMAN			1	326	+			101					A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	c.303T>A	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947316	0.53186	.	.	ENSG00000187516	ENST00000341016	T	0.43294	0.95	3.7	1.29	0.21616	Histone-fold (1);	.	.	.	.	T	0.34424	0.0897	L	0.36672	1.1	0.09310	N	1	D	0.54964	0.969	P	0.50934	0.654	T	0.15867	-1.0422	9	0.14252	T	0.57	.	4.8328	0.13449	0.0:0.2706:0.0:0.7294	.	101	O75409	HYPM_HUMAN	E	101	ENSP00000339511:D101E	ENSP00000339511:D101E	D	+	3	2	CXorf27	37735339	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	0.163000	0.19507	0.417000	0.27973	GAT		0.527	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1			11	31	0	0	0	0	11	31				
BCOR	54880	broad.mit.edu	37	X	39932751	39932751	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:39932751G>T	ENST00000378444.4	-	4	2076	c.1848C>A	c.(1846-1848)ggC>ggA	p.G616G	BCOR_ENST00000342274.4_Silent_p.G616G|BCOR_ENST00000378455.4_Silent_p.G616G|BCOR_ENST00000397354.3_Silent_p.G616G	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	616					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCTTTGGCGCCCTTGCTGC	0.567			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1846-1848)GGC>GGA		BCL-6 interacting corepressor isoform c							68.0	67.0	67.0					X																	39932751		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932751G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1848C>A	X.37:g.39932751G>T						BCOR_uc004dep.3_Silent_p.G616G|BCOR_uc004deo.3_Silent_p.G616G|BCOR_uc004dem.3_Silent_p.G616G|BCOR_uc004deq.3_Silent_p.G616G	p.G616G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	2140	-			616					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1848C>A	CCDS48093.1																																																																																				0.567	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		22	67	1	0	4.27e-12	8.67e-12	22	67				
SSX5	6758	broad.mit.edu	37	X	48049698	48049698	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48049698G>A	ENST00000376923.1	-	5	336	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	SSX5_ENST00000347757.1_Missense_Mutation_p.P113S|SSX5_ENST00000311798.1_Missense_Mutation_p.P154S			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGCTTCTCGGGCGTGATCTTT	0.438																																						uc004dja.1		NA																	0					0						c.(337-339)CCC>TCC		synovial sarcoma, X breakpoint 5 isoform b							150.0	146.0	147.0					X																	48049698		2203	4299	6502	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48049698G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.337C>T	X.37:g.48049698G>A	ENSP00000366122:p.Pro113Ser					SSX5_uc004diz.1_Missense_Mutation_p.P154S	p.P113S	NM_175723	NP_783729	O60225	SSX5_HUMAN			6	390	-			113					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.337C>T	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	10.37	1.331361	0.24167	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	T;T;T;T	0.37584	3.05;3.09;3.09;1.19	1.66	0.686	0.18015	.	2.552630	0.01809	N	0.033355	T	0.41949	0.1181	M	0.81682	2.555	0.09310	N	1	B;B	0.29162	0.235;0.097	B;B	0.35114	0.18;0.196	T	0.16100	-1.0414	10	0.12103	T	0.63	.	4.6424	0.12556	0.0:0.0:0.628:0.372	.	113;154	O60225;O60225-2	SSX5_HUMAN;.	S	154;113;113;53	ENSP00000312415:P154S;ENSP00000366122:P113S;ENSP00000290558:P113S;ENSP00000385051:P53S	ENSP00000312415:P154S	P	-	1	0	SSX5	47934642	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.151000	0.10175	0.159000	0.19401	0.171000	0.16805	CCC		0.438	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		54	243	0	0	0	0	54	243				
WAS	7454	broad.mit.edu	37	X	48542680	48542680	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48542680C>A	ENST00000376701.4	+	2	216	c.141C>A	c.(139-141)gcC>gcA	p.A47A	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	47	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGACGCTGGCCACTGCAGTTG	0.602			"""Mis, N, F, S"""			lymphoma																																uc004dkm.3		NA		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Mis|N|F|S	Wiskott-Aldrich syndrome			L		lymphoma			0				ovary(1)	1						c.(139-141)GCC>GCA		Wiskott-Aldrich syndrome protein							63.0	52.0	56.0					X																	48542680		2203	4300	6503	SO:0001819	synonymous_variant	7454	Wiskott-Aldrich_syndrome			blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48542680C>A	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.141C>A	X.37:g.48542680C>A							p.A47A	NM_000377	NP_000368	P42768	WASP_HUMAN			2	198	+		all_lung(315;1.27e-10)	47			WH1.		Q9BU11|Q9UNJ9	Silent	SNP	ENST00000376701.4	37	c.141C>A	CCDS14303.1																																																																																				0.602	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		18	48	1	0	2.35e-11	4.74e-11	18	48				
HDAC6	10013	broad.mit.edu	37	X	48672940	48672940	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48672940C>A	ENST00000334136.5	+	11	1078	c.900C>A	c.(898-900)ggC>ggA	p.G300G	HDAC6_ENST00000376619.2_Silent_p.G300G|HDAC6_ENST00000413163.2_Silent_p.G245G|HDAC6_ENST00000444343.2_Silent_p.G314G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	300	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TCGGCCAAGGCCAAGGATATA	0.602																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(898-900)GGC>GGA		histone deacetylase 6	Vorinostat(DB02546)						85.0	73.0	77.0					X																	48672940		2203	4300	6503	SO:0001819	synonymous_variant	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48672940C>A	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.900C>A	X.37:g.48672940C>A						HDAC6_uc004dks.1_Silent_p.G300G|HDAC6_uc010nig.1_Silent_p.G148G|HDAC6_uc004dkt.1_Silent_p.G300G|HDAC6_uc011mmj.1_Silent_p.G245G|HDAC6_uc011mmk.1_Silent_p.G281G|HDAC6_uc004dkv.1_5'UTR|HDAC6_uc004dkw.1_5'UTR	p.G300G	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			11	995	+			300			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	c.900C>A	CCDS14306.1																																																																																				0.602	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		11	56	1	0	1.34e-11	2.71e-11	11	56				
KCND1	3750	broad.mit.edu	37	X	48826247	48826247	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48826247G>T	ENST00000218176.3	-	1	1729	c.432C>A	c.(430-432)gcC>gcA	p.A144A	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	144					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CCAGGCGCTCGGCATTCTCCT	0.657																																						uc004dlx.1		NA																	0				ovary(2)|lung(1)	3						c.(430-432)GCC>GCA		potassium voltage-gated channel, Shal-related							23.0	19.0	20.0					X																	48826247		2202	4300	6502	SO:0001819	synonymous_variant	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48826247G>T	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.432C>A	X.37:g.48826247G>T						KCND1_uc004dlw.1_5'Flank	p.A144A	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			1	2005	-			144			Cytoplasmic (Potential).		A6NEF1|B2RCG0|O75671	Silent	SNP	ENST00000218176.3	37	c.432C>A	CCDS14314.1																																																																																				0.657	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		9	19	1	0	1.13e-05	2.04e-05	9	19				
CCDC120	90060	broad.mit.edu	37	X	48921431	48921431	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:48921431C>A	ENST00000376396.3	+	5	442	c.223C>A	c.(223-225)Cct>Act	p.P75T	CCDC120_ENST00000597275.1_Missense_Mutation_p.P75T|CCDC120_ENST00000536628.2_Missense_Mutation_p.P63T|CCDC120_ENST00000422185.2_Missense_Mutation_p.P75T|CCDC120_ENST00000603986.1_Missense_Mutation_p.P110T|CCDC120_ENST00000496529.2_Missense_Mutation_p.P75T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	75										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCACTAGAGCCTGGTGAACG	0.657																																						uc010nik.2		NA																	0				pancreas(1)	1						c.(223-225)CCT>ACT		coiled-coil domain containing 120 isoform 3							23.0	23.0	23.0					X																	48921431		2203	4297	6500	SO:0001583	missense	90060						protein binding	g.chrX:48921431C>A	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.223C>A	X.37:g.48921431C>A	ENSP00000365577:p.Pro75Thr					CCDC120_uc011mmq.1_Missense_Mutation_p.P63T|CCDC120_uc004dmf.2_Missense_Mutation_p.P75T|CCDC120_uc010nil.2_Missense_Mutation_p.P75T|CCDC120_uc011mmr.1_Missense_Mutation_p.P75T|CCDC120_uc011mms.1_Missense_Mutation_p.P63T	p.P75T	NM_033626	NP_296375	Q96HB5	CC120_HUMAN			5	730	+			75					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.223C>A	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471041	0.63625	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.45	4.45	0.53987	.	0.000000	0.52532	D	0.000075	T	0.64583	0.2611	L	0.46157	1.445	0.34508	D	0.706751	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.999;0.999;0.997	T	0.73477	-0.3970	9	0.45353	T	0.12	-3.132	13.3263	0.60461	0.0:1.0:0.0:0.0	.	63;110;63;75	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	T	75;75;63	.	ENSP00000365577:P75T	P	+	1	0	CCDC120	48808375	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	2.595000	0.46197	1.819000	0.53055	0.468000	0.43344	CCT		0.657	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	NM_033626		6	24	1	0	0.000157383	0.000274117	6	24				
PPP1R3F	89801	broad.mit.edu	37	X	49142667	49142667	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:49142667G>C	ENST00000055335.6	+	4	1531	c.1515G>C	c.(1513-1515)gcG>gcC	p.A505A	PPP1R3F_ENST00000438316.1_Silent_p.A176A|PPP1R3F_ENST00000495799.1_Silent_p.A159A|PPP1R3F_ENST00000376188.1_Silent_p.A159A|PPP1R3F_ENST00000466508.1_Silent_p.A159A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	505					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGTGGCTGCGGGTGGGGCAG	0.657																																						uc004dnh.1		NA																	0				ovary(2)|skin(1)	3						c.(1513-1515)GCG>GCC		protein phosphatase 1, regulatory (inhibitor)							10.0	11.0	10.0					X																	49142667		2152	4181	6333	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49142667G>C		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1515G>C	X.37:g.49142667G>C						PPP1R3F_uc011mnd.1_Silent_p.A176A|PPP1R3F_uc004dni.2_Silent_p.A159A|PPP1R3F_uc004dnj.1_Silent_p.A159A	p.A505A	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			4	1531	+	Ovarian(276;0.236)		505			Extracellular (Potential).		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.1515G>C	CCDS35254.1																																																																																				0.657	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		7	18	0	0	0	0	7	18				
CCNB3	85417	broad.mit.edu	37	X	50089707	50089707	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:50089707G>A	ENST00000376042.1	+	10	4009	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	CCNB3_ENST00000348603.2_Silent_p.Q133Q|CCNB3_ENST00000276014.7_Silent_p.Q1237Q|CCNB3_ENST00000376038.1_Silent_p.Q133Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1237					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAATTATCAGCGATCTGAGG	0.473																																						uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3709-3711)CAG>CAA		cyclin B3 isoform 3							222.0	169.0	187.0					X																	50089707		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50089707G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3711G>A	X.37:g.50089707G>A						CCNB3_uc004doy.2_Silent_p.Q1237Q|CCNB3_uc004doz.2_Silent_p.Q133Q|CCNB3_uc010njq.2_Silent_p.Q129Q|CCNB3_uc004dpa.2_Silent_p.Q76Q	p.Q1237Q	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			10	4009	+	Ovarian(276;0.236)		1237					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.3711G>A	CCDS14331.1																																																																																				0.473	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			23	75	0	0	0	0	23	75				
SHROOM4	57477	broad.mit.edu	37	X	50376525	50376525	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:50376525G>T	ENST00000289292.7	-	4	2831	c.2548C>A	c.(2548-2550)Ctt>Att	p.L850I	SHROOM4_ENST00000376020.2_Missense_Mutation_p.L850I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.L734I			Q9ULL8	SHRM4_HUMAN	shroom family member 4	850					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGACTGAAGGGGTGACATG	0.443																																						uc004dpe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(2548-2550)CTT>ATT		shroom family member 4							200.0	172.0	182.0					X																	50376525		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376525G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2548C>A	X.37:g.50376525G>T	ENSP00000289292:p.Leu850Ile					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.L734I	p.L850I	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2574	-	Ovarian(276;0.236)		850					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2548C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651811	0.47362	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88664	-2.41;-2.41;-2.41	5.6	5.6	0.85130	.	0.374087	0.26013	N	0.026864	D	0.82646	0.5082	L	0.29908	0.895	0.31569	N	0.656599	P	0.37466	0.596	B	0.34991	0.193	T	0.81165	-0.1057	10	0.19590	T	0.45	.	17.5153	0.87771	0.0:0.0:1.0:0.0	.	850	Q9ULL8	SHRM4_HUMAN	I	850;850;734	ENSP00000289292:L850I;ENSP00000365188:L850I;ENSP00000421450:L734I	ENSP00000289292:L850I	L	-	1	0	SHROOM4	50393265	0.752000	0.28338	0.988000	0.46212	0.709000	0.40893	1.398000	0.34554	2.492000	0.84095	0.600000	0.82982	CTT		0.443	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		23	111	1	0	1.18e-14	2.47e-14	23	111				
GSPT2	23708	broad.mit.edu	37	X	51488376	51488376	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:51488376G>T	ENST00000340438.4	+	1	1896	c.1654G>T	c.(1654-1656)Gtt>Ttt	p.V552F		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	552					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TATTGAGGAAGTTGAGATAAC	0.418																																						uc004dpl.2		NA																	0				ovary(1)	1						c.(1654-1656)GTT>TTT		peptide chain release factor 3							159.0	132.0	142.0					X																	51488376		2203	4300	6503	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51488376G>T	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1654G>T	X.37:g.51488376G>T	ENSP00000341247:p.Val552Phe						p.V552F	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			1	1880	+	Ovarian(276;0.236)		552					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.1654G>T	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406965	0.62399	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.35973	1.28	4.75	4.75	0.60458	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75022	-0.3464	10	0.87932	D	0	-15.7637	14.5557	0.68100	0.0:0.0:1.0:0.0	.	552	Q8IYD1	ERF3B_HUMAN	F	552;469	ENSP00000341247:V552F	ENSP00000341247:V552F	V	+	1	0	GSPT2	51505116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.706000	0.91362	2.615000	0.88500	0.596000	0.82720	GTT		0.418	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			31	91	1	0	1.89e-17	3.99e-17	31	91				
XAGE5	170627	broad.mit.edu	37	X	52844169	52844169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:52844169G>T	ENST00000375501.1	+	3	232	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000351072.1_Nonsense_Mutation_p.E78*|XAGE5_ENST00000425386.1_Nonsense_Mutation_p.E78*|XAGE5_ENST00000445860.2_3'UTR			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	78										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GACTGGGGATGAATGCGGAGA	0.428																																						uc004drd.1		NA																	0				ovary(1)	1						c.(232-234)GAA>TAA		X antigen family, member 5							61.0	52.0	55.0					X																	52844169		2203	4300	6503	SO:0001587	stop_gained	170627							g.chrX:52844169G>T	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.232G>T	X.37:g.52844169G>T	ENSP00000364651:p.Glu78*						p.E78*	NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN			4	297	+			78					Q5JS81	Nonsense_Mutation	SNP	ENST00000375501.1	37	c.232G>T	CCDS14346.1	.	.	.	.	.	.	.	.	.	.	g	10.67	1.416555	0.25552	.	.	ENSG00000171405	ENST00000351072;ENST00000425386;ENST00000375501	.	.	.	0.785	-0.844	0.10741	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	.	.	.	.	.	.	.	X	78	.	ENSP00000342240:E78X	E	+	1	0	XAGE5	52860894	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.383000	0.07398	-0.340000	0.08388	0.279000	0.19357	GAA		0.428	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1	NM_130775		6	52	1	0	0.00198382	0.00332627	6	52				
HUWE1	10075	broad.mit.edu	37	X	53571657	53571657	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:53571657G>C	ENST00000342160.3	-	71	11572	c.11115C>G	c.(11113-11115)ctC>ctG	p.L3705L	HUWE1_ENST00000262854.6_Silent_p.L3705L|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3705					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGGCAGCTGGAGCTCCCGGC	0.522																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(11113-11115)CTC>CTG		HECT, UBA and WWE domain containing 1							90.0	71.0	78.0					X																	53571657		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53571657G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11115C>G	X.37:g.53571657G>C						HUWE1_uc004dsn.2_Silent_p.L2513L|HUWE1_uc004dsq.1_Silent_p.L20L	p.L3705L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			72	11517	-			3705					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.11115C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	5.715	0.316390	0.10789	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.66	2.72	0.32119	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49570	-0.8926	4	.	.	.	.	6.102	0.20053	0.1855:0.3042:0.5103:0.0	.	.	.	.	A	2739;543	.	.	P	-	1	0	HUWE1	53588382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.396000	0.34531	1.177000	0.42855	0.534000	0.68092	CCA		0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	93	0	0	0	0	5	93				
FGD1	2245	broad.mit.edu	37	X	54472808	54472808	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:54472808C>G	ENST00000375135.3	-	18	3353	c.2620G>C	c.(2620-2622)Gag>Cag	p.E874Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	874	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGTCCCACCTCGAAGCCAATG	0.652																																						uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2620-2622)GAG>CAG		faciogenital dysplasia protein							29.0	25.0	26.0					X																	54472808		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54472808C>G	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2620G>C	X.37:g.54472808C>G	ENSP00000364277:p.Glu874Gln						p.E874Q	NM_004463	NP_004454	P98174	FGD1_HUMAN			18	3354	-			874			PH 2.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2620G>C	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187936	0.57909	.	.	ENSG00000102302	ENST00000375135	T	0.75704	-0.96	5.79	5.79	0.91817	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.53938	D	0.000044	T	0.72653	0.3487	L	0.39514	1.22	0.58432	D	0.999997	B	0.26876	0.162	B	0.39094	0.29	T	0.66536	-0.5899	10	0.18710	T	0.47	-17.1862	17.6058	0.88037	0.0:1.0:0.0:0.0	.	874	P98174	FGD1_HUMAN	Q	874	ENSP00000364277:E874Q	ENSP00000364277:E874Q	E	-	1	0	FGD1	54489533	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.124000	0.57924	2.429000	0.82318	0.513000	0.50165	GAG		0.652	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		4	40	0	0	0	0	4	40				
ITIH6	347365	broad.mit.edu	37	X	54785154	54785154	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:54785154G>T	ENST00000218436.6	-	8	1382	c.1353C>A	c.(1351-1353)cgC>cgA	p.R451R		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	451	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCTCATATATGCGCCGGGCTA	0.572																																						uc004dtj.2		NA																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(1351-1353)CGC>CGA		inter-alpha (globulin) inhibitor H5-like							46.0	42.0	43.0					X																	54785154		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785154G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1353C>A	X.37:g.54785154G>T							p.R451R	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	1383	-			451			VWFA.		A6NN03	Silent	SNP	ENST00000218436.6	37	c.1353C>A	CCDS14361.1																																																																																				0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		10	29	1	0	2.18e-05	3.93e-05	10	29				
PAGE5	90737	broad.mit.edu	37	X	55248198	55248198	+	Splice_Site	SNP	A	A	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:55248198A>C	ENST00000289619.5	+	3	386		c.e3-1		PAGE5_ENST00000374955.3_Splice_Site|PAGE5_ENST00000374952.1_Splice_Site	NM_130467.3	NP_569734.2	Q96GU1	PAGE5_HUMAN	P antigen family, member 5 (prostate associated)											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TTACACCCTTAGGTCCAGCAG	0.393																																						uc004duj.2		NA																	0					0						c.e3-2		P antigen family, member 5 isoform 1							91.0	64.0	73.0					X																	55248198		2203	4300	6503	SO:0001630	splice_region_variant	90737							g.chrX:55248198A>C	AJ344352	CCDS14368.1, CCDS35306.1	Xp11.22	2009-08-18			ENSG00000158639	ENSG00000158639			29992	protein-coding gene	gene with protein product	"""cancer/testis antigen family 16, member 1"", ""cancer/testis antigen family 16, member 2"""					11920606, 11992404	Standard	XM_006724613		Approved	PAGE-5, CT16.1, CT16.2	uc004duk.3	Q96GU1	OTTHUMG00000021650	ENST00000289619.5:c.142-1A>C	X.37:g.55248198A>C						PAGE5_uc004duk.2_Splice_Site_p.V28_splice	p.V48_splice	NM_130467	NP_569734	Q96GU1	GGEE1_HUMAN			3	384	+								Q2NL97|Q5JUL0|Q8WWL9	Splice_Site	SNP	ENST00000289619.5	37	c.142_splice	CCDS14368.1	.	.	.	.	.	.	.	.	.	.	A	7.423	0.637140	0.14386	.	.	ENSG00000158639	ENST00000289619;ENST00000374955;ENST00000374952	.	.	.	1.09	1.09	0.20402	.	.	.	.	.	.	.	.	.	.	.	0.20975	N	0.999813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0529	0.09803	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAGE5	55264923	0.021000	0.18746	0.019000	0.16419	0.350000	0.29205	1.097000	0.30988	0.677000	0.31305	0.231000	0.17811	.		0.393	PAGE5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056861.1	NM_130467	Intron	7	11	0	0	0	0	7	11				
AMER1	139285	broad.mit.edu	37	X	63412059	63412059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:63412059C>A	ENST00000330258.3	-	2	1380	c.1108G>T	c.(1108-1110)Gag>Tag	p.E370*	AMER1_ENST00000374869.3_Nonsense_Mutation_p.E370*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.E370*	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	370	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.E370fs*8(2)									GCCATCTCCTCCCCACCTCCT	0.542																																						uc004dvo.2		NA																	69	Whole gene deletion(67)|Insertion - Frameshift(2)	p.0?(40)	kidney(65)|large_intestine(3)|ovary(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1108-1110)GAG>TAG		family with sequence similarity 123B							147.0	134.0	138.0					X																	63412059		2203	4300	6503	SO:0001587	stop_gained	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412059C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1108G>T	X.37:g.63412059C>A	ENSP00000329117:p.Glu370*						p.E370*	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1381	-			370			Glu-rich.		A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	c.1108G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	40	8.136826	0.98672	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.5191	16.762	0.85514	0.0:1.0:0.0:0.0	.	.	.	.	X	370	.	ENSP00000329117:E370X	E	-	1	0	FAM123B	63328784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.618000	0.88619	0.600000	0.82982	GAG		0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		16	110	1	0	4.75e-09	9.27e-09	16	110				
DLG3	1741	broad.mit.edu	37	X	69719860	69719860	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:69719860T>C	ENST00000374360.3	+	16	2339	c.2106T>C	c.(2104-2106)taT>taC	p.Y702Y	DLG3_ENST00000542398.1_Silent_p.Y251Y|DLG3_ENST00000194900.4_Silent_p.Y734Y|DLG3_ENST00000374355.3_Silent_p.Y397Y|DLG3_ENST00000461646.1_3'UTR	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	702	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ATAACCTCTATGGGACCAGCA	0.498																																						uc004dyi.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(2104-2106)TAT>TAC		synapse-associated protein 102 isoform a							77.0	62.0	67.0					X																	69719860		2203	4300	6503	SO:0001819	synonymous_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69719860T>C	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2106T>C	X.37:g.69719860T>C						DLG3_uc004dyj.1_Silent_p.Y397Y|DLG3_uc011mpn.1_Silent_p.Y250Y	p.Y702Y	NM_021120	NP_066943	Q92796	DLG3_HUMAN			16	2434	+	Renal(35;0.156)		702			Guanylate kinase-like.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	37	c.2106T>C	CCDS14403.1																																																																																				0.498	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		8	42	0	0	0	0	8	42				
OGT	8473	broad.mit.edu	37	X	70776893	70776893	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:70776893C>G	ENST00000373719.3	+	10	1475	c.1258C>G	c.(1258-1260)Cgt>Ggt	p.R420G	OGT_ENST00000373701.3_Missense_Mutation_p.R410G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	420					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTGTTATACGCGTGCCATCCA	0.408																																						uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1258-1260)CGT>GGT		O-linked GlcNAc transferase isoform 1							96.0	76.0	83.0					X																	70776893		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70776893C>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1258C>G	X.37:g.70776893C>G	ENSP00000362824:p.Arg420Gly					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.R410G|OGT_uc004eac.2_Missense_Mutation_p.R281G|OGT_uc004ead.2_Missense_Mutation_p.R39G	p.R420G	NM_181672	NP_858058	O15294	OGT1_HUMAN			10	1475	+	Renal(35;0.156)		420			TPR 11.		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1258C>G	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051235	0.75960	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.28666	1.6;1.6	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.994;0.997;0.972	T	0.69375	-0.5162	10	0.72032	D	0.01	-26.4879	13.433	0.61066	0.1564:0.8436:0.0:0.0	.	294;410;420	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	G	420;410	ENSP00000362824:R420G;ENSP00000362805:R410G	ENSP00000362805:R410G	R	+	1	0	OGT	70693618	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	5.718000	0.68455	2.557000	0.86248	0.594000	0.82650	CGT		0.408	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		4	46	0	0	0	0	4	46				
NHSL2	340527	broad.mit.edu	37	X	71359607	71359607	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:71359607C>A	ENST00000373677.1	+	2	2373	c.1111C>A	c.(1111-1113)Cct>Act	p.P371T	NHSL2_ENST00000540800.1_Missense_Mutation_p.P737T|NHSL2_ENST00000510661.1_Missense_Mutation_p.P506T|NHSL2_ENST00000535692.1_Missense_Mutation_p.P371T			Q5HYW2	NHSL2_HUMAN	NHS-like 2	371	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACTTACCCCCTCCAAGCAG	0.577																																						uc011mqa.1		NA																	0					0						c.(2209-2211)CCT>ACT		NHS-like 2							105.0	80.0	88.0					X																	71359607		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71359607C>A			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1111C>A	X.37:g.71359607C>A	ENSP00000362781:p.Pro371Thr					NHSL2_uc004eak.1_Missense_Mutation_p.P371T|NHSL2_uc010nli.2_Missense_Mutation_p.P506T	p.P737T	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	2209	+	Renal(35;0.156)		737					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2209C>A		.	.	.	.	.	.	.	.	.	.	C	6.831	0.522486	0.13066	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.46819	1.42;0.88;0.86;0.88	5.99	3.24	0.37175	.	0.848400	0.10875	N	0.624509	T	0.40522	0.1120	L	0.58583	1.82	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.39078	-0.9631	10	0.45353	T	0.12	-1.666	3.6028	0.08031	0.3072:0.4657:0.1453:0.0818	.	737;506;371	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	T	737;371;506;371	ENSP00000444617:P737T;ENSP00000362781:P371T;ENSP00000424079:P506T;ENSP00000444914:P371T	ENSP00000362781:P371T	P	+	1	0	NHSL2	71276332	0.000000	0.05858	0.015000	0.15790	0.815000	0.46073	0.367000	0.20382	0.256000	0.21614	0.600000	0.82982	CCT		0.577	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		6	63	1	0	8.13e-05	0.00014282	6	63				
Unknown	0	broad.mit.edu	37	X	71379782	71379782	+	IGR	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:71379782G>A								BX119917.1 (7518 upstream) : PIN4 (21743 downstream)																							GCTGCGCCTGGAGGTGGAAGG	0.512																																						uc004eal.1		NA																	0				lung(1)	1						c.(103-105)GAG>AAG		hypothetical protein LOC392490							82.0	76.0	78.0					X																	71379782		2202	4299	6501	SO:0001628	intergenic_variant	392490							g.chrX:71379782G>A																													X.37:g.71379782G>A							p.E35K	NM_207422	NP_997305	Q56UQ5	TPT1L_HUMAN			2	451	+	Renal(35;0.156)		35						Missense_Mutation	SNP		37	c.103G>A																																																																																				0	0.512									9	37	0	0	0	0	9	37				
RLIM	51132	broad.mit.edu	37	X	73812474	73812474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:73812474C>T	ENST00000332687.6	-	4	894	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	RLIM_ENST00000349225.2_Missense_Mutation_p.E226K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	226					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTACTTCTTTCAGCTCTTGCT	0.468																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NA																	0				ovary(2)	2						c.(676-678)GAA>AAA		ring finger protein, LIM domain interacting							141.0	114.0	123.0					X																	73812474		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73812474C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.676G>A	X.37:g.73812474C>T	ENSP00000328059:p.Glu226Lys					RLIM_uc004ebw.2_Missense_Mutation_p.E226K	p.E226K	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	966	-			226					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.676G>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355530	0.61293	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	6.05	6.05	0.98169	.	0.149607	0.64402	D	0.000014	T	0.10937	0.0267	L	0.48642	1.525	0.50467	D	0.999874	B	0.34015	0.435	B	0.27262	0.078	T	0.02352	-1.1172	10	0.62326	D	0.03	-20.3165	19.4924	0.95056	0.0:1.0:0.0:0.0	.	226	Q9NVW2	RNF12_HUMAN	K	226	ENSP00000328059:E226K;ENSP00000253571:E226K	ENSP00000328059:E226K	E	-	1	0	RLIM	73729199	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.757000	0.68766	2.558000	0.86282	0.594000	0.82650	GAA		0.468	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		13	122	0	0	0	0	13	122				
ATRX	546	broad.mit.edu	37	X	76854951	76854951	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:76854951G>A	ENST00000373344.5	-	25	6099	c.5885C>T	c.(5884-5886)tCt>tTt	p.S1962F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1924F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1962					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACCTCCCCGAGATCTTGAATT	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5884-5886)TCT>TTT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						367.0	347.0	354.0					X																	76854951		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76854951G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5885C>T	X.37:g.76854951G>A	ENSP00000362441:p.Ser1962Phe					ATRX_uc004ecq.3_Missense_Mutation_p.S1924F|ATRX_uc004eco.3_Missense_Mutation_p.S1747F	p.S1962F	NM_000489	NP_000480	P46100	ATRX_HUMAN			25	6117	-			1962					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5885C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596144	0.66332	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92965	-3.13;-3.14	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000001	D	0.94470	0.8220	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.94047	0.7314	10	0.42905	T	0.14	-4.9906	18.6528	0.91437	0.0:0.0:1.0:0.0	.	1924;1962	P46100-4;P46100	.;ATRX_HUMAN	F	1962;1924	ENSP00000362441:S1962F;ENSP00000378967:S1924F	ENSP00000362441:S1962F	S	-	2	0	ATRX	76741607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.348000	0.79779	0.594000	0.82650	TCT		0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		39	425	0	0	0	0	39	425				
ATRX	546	broad.mit.edu	37	X	76938634	76938634	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:76938634T>C	ENST00000373344.5	-	9	2328	c.2114A>G	c.(2113-2115)gAc>gGc	p.D705G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D667G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	705					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATAGCACTGTCAGAAGAATT	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						T|||	1	0.000264901	0.0	0.0	3775	,	,		14400	0.0		0.0	False		,,,				2504	0.001					uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2113-2115)GAC>GGC		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						158.0	156.0	157.0					X																	76938634		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938634T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2114A>G	X.37:g.76938634T>C	ENSP00000362441:p.Asp705Gly					ATRX_uc004ecq.3_Missense_Mutation_p.D667G|ATRX_uc004eco.3_Missense_Mutation_p.D490G|ATRX_uc004ecr.2_Missense_Mutation_p.D637G|ATRX_uc010nlx.1_Missense_Mutation_p.D676G|ATRX_uc010nly.1_Missense_Mutation_p.D650G	p.D705G	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2346	-			705					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2114A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568536	0.28003	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.95342	-3.68;-3.62	5.74	4.56	0.56223	.	0.293957	0.31624	N	0.007327	D	0.95433	0.8517	L	0.55481	1.735	0.80722	D	1	P;D;B;P	0.67145	0.952;0.996;0.041;0.952	P;D;B;P	0.64321	0.612;0.924;0.011;0.612	D	0.94642	0.7831	10	0.66056	D	0.02	-10.8663	10.8864	0.46971	0.0:0.0745:0.0:0.9255	.	705;637;667;705	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	G	705;667;632	ENSP00000362441:D705G;ENSP00000378967:D667G	ENSP00000362441:D705G	D	-	2	0	ATRX	76825290	1.000000	0.71417	0.913000	0.36048	0.990000	0.78478	3.559000	0.53756	0.786000	0.33708	0.417000	0.27973	GAC		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		33	258	0	0	0	0	33	258				
ATP7A	538	broad.mit.edu	37	X	77271303	77271303	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:77271303G>T	ENST00000341514.6	+	12	2706	c.2551G>T	c.(2551-2553)Gtt>Ttt	p.V851F	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.V773F	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	851					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CATTAAAGTAGTTCCAGGAGG	0.393																																						uc004ecx.3		NA																	0					0						c.(2551-2553)GTT>TTT		ATPase, Cu++ transporting, alpha polypeptide							196.0	179.0	185.0					X																	77271303		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77271303G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2551G>T	X.37:g.77271303G>T	ENSP00000345728:p.Val851Phe						p.V851F	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			12	2711	+			851			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2551G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156209	0.78114	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.90504	-2.68;-2.68	5.42	4.56	0.56223	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.062767	0.64402	D	0.000005	D	0.92192	0.7524	L	0.45352	1.415	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91818	0.5465	10	0.66056	D	0.02	0.7708	9.7947	0.40728	0.1624:0.0:0.8376:0.0	.	851	Q04656	ATP7A_HUMAN	F	773;851	ENSP00000343026:V773F;ENSP00000345728:V851F	ENSP00000345728:V851F	V	+	1	0	ATP7A	77157959	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	2.734000	0.47368	1.153000	0.42468	0.422000	0.28245	GTT		0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		13	159	1	0	9.31e-06	1.7e-05	13	159				
LPAR4	2846	broad.mit.edu	37	X	78010699	78010699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:78010699C>A	ENST00000435339.3	+	2	719	c.333C>A	c.(331-333)tgC>tgA	p.C111*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	111					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ACACCCTCTGCAAGATCTCTG	0.428																																						uc010nme.2		NA																	0				ovary(3)	3						c.(331-333)TGC>TGA		lysophosphatidic acid receptor 4							161.0	134.0	143.0					X																	78010699		2203	4299	6502	SO:0001587	stop_gained	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010699C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.333C>A	X.37:g.78010699C>A	ENSP00000408205:p.Cys111*						p.C111*	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	738	+			111			Extracellular (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Nonsense_Mutation	SNP	ENST00000435339.3	37	c.333C>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	37	6.047333	0.97236	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	.	.	.	4.21	2.2	0.27929	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2644	0.20917	0.0:0.613:0.0:0.387	.	.	.	.	X	111	.	ENSP00000362398:C111X	C	+	3	2	LPAR4	77897355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.089000	0.30890	0.778000	0.33520	0.422000	0.28245	TGC		0.428	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		34	109	1	0	9.78e-24	2.1e-23	34	109				
P2RY10	27334	broad.mit.edu	37	X	78216597	78216597	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:78216597G>T	ENST00000171757.2	+	4	860	c.580G>T	c.(580-582)Gcg>Tcg	p.A194S	P2RY10_ENST00000544091.1_Missense_Mutation_p.A194S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.A194T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAATGCAGTTGCGTTGGTCGG	0.458																																						uc004ede.2		NA																	1	Substitution - Missense(1)	p.A194T(1)	lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(580-582)GCG>TCG		G-protein coupled purinergic receptor P2Y10							157.0	117.0	131.0					X																	78216597		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216597G>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.580G>T	X.37:g.78216597G>T	ENSP00000171757:p.Ala194Ser					P2RY10_uc004edf.2_Missense_Mutation_p.A194S	p.A194S	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	949	+			194			Helical; Name=5; (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.580G>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.910975	0.00508	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37235	1.21;1.21	4.78	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	1.539170	0.03255	N	0.182429	T	0.24353	0.0590	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.16188	-1.0411	10	0.21540	T	0.41	.	5.414	0.16363	0.2943:0.1634:0.5423:0.0	.	194	O00398	P2Y10_HUMAN	S	194	ENSP00000443138:A194S;ENSP00000171757:A194S	ENSP00000171757:A194S	A	+	1	0	P2RY10	78103253	0.003000	0.15002	0.100000	0.21137	0.397000	0.30659	1.357000	0.34090	0.457000	0.26962	0.417000	0.27973	GCG		0.458	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			6	66	1	0	1.07e-07	2.04e-07	6	66				
POU3F4	5456	broad.mit.edu	37	X	82763401	82763401	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:82763401G>A	ENST00000373200.2	+	1	133	c.69G>A	c.(67-69)gcG>gcA	p.A23A	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CGGACTCTGCGGGCATGCAGC	0.552																																						uc004eeg.2		NA																	0				ovary(1)	1						c.(67-69)GCG>GCA		POU domain, class 3, transcription factor 4							59.0	44.0	49.0					X																	82763401		2203	4300	6503	SO:0001819	synonymous_variant	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763401G>A	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.69G>A	X.37:g.82763401G>A							p.A23A	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	133	+			23					B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	c.69G>A	CCDS14450.1																																																																																				0.552	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		5	34	0	0	0	0	5	34				
SATL1	340562	broad.mit.edu	37	X	84362472	84362472	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:84362472C>T	ENST00000395409.3	-	1	1502	c.942G>A	c.(940-942)ctG>ctA	p.L314L	SATL1_ENST00000509231.1_Silent_p.L501L|SATL1_ENST00000332921.5_Silent_p.L314L			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	314	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCAGCACTAATT	0.547																																						uc011mqx.1		NA																	0				breast(2)	2						c.(1501-1503)CTG>CTA		spermidine/spermine N1-acetyl transferase-like 1							137.0	112.0	120.0					X																	84362472		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84362472C>T	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.942G>A	X.37:g.84362472C>T						SATL1_uc004een.2_Silent_p.L501L	p.L501L	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	1503	-			314			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.1503G>A																																																																																					0.547	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		9	81	0	0	0	0	9	81				
PCDH11X	27328	broad.mit.edu	37	X	91134149	91134149	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:91134149C>A	ENST00000373094.1	+	2	3755	c.2910C>A	c.(2908-2910)aaC>aaA	p.N970K	PCDH11X_ENST00000298274.8_Missense_Mutation_p.N970K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N970K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N970K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N970K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N970K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	970					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTCGATAACACCTTTGTGG	0.502																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(2908-2910)AAC>AAA		protocadherin 11 X-linked isoform c							267.0	209.0	229.0					X																	91134149		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134149C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2910C>A	X.37:g.91134149C>A	ENSP00000362186:p.Asn970Lys					PCDH11X_uc004efl.1_Missense_Mutation_p.N970K|PCDH11X_uc004efo.1_Missense_Mutation_p.N970K|PCDH11X_uc010nmv.1_Missense_Mutation_p.N970K|PCDH11X_uc004efm.1_Missense_Mutation_p.N970K|PCDH11X_uc004efn.1_Missense_Mutation_p.N970K|PCDH11X_uc004efh.1_Missense_Mutation_p.N970K|PCDH11X_uc004efj.1_Missense_Mutation_p.N970K	p.N970K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3755	+			970			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2910C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169154	0.38315	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.35	1.52	0.23074	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	M	0.76574	2.34	0.37309	D	0.909028	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999	T	0.66662	-0.5867	10	0.87932	D	0	.	9.0613	0.36436	0.0:0.6764:0.0:0.3236	.	970;970;970;970;970;970;970;970	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	970	ENSP00000378746:N970K;ENSP00000362186:N970K;ENSP00000362189:N970K;ENSP00000355040:N970K;ENSP00000362180:N970K;ENSP00000423762:N970K;ENSP00000355105:N970K;ENSP00000384758:N970K;ENSP00000298274:N970K	ENSP00000298274:N970K	N	+	3	2	PCDH11X	91020805	1.000000	0.71417	0.999000	0.59377	0.654000	0.38779	0.960000	0.29253	0.107000	0.17824	0.600000	0.82982	AAC		0.502	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		50	154	1	0	4.86e-25	1.05e-24	50	154				
BTK	695	broad.mit.edu	37	X	100608907	100608907	+	Missense_Mutation	SNP	T	T	A	rs146681416	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:100608907T>A	ENST00000308731.7	-	17	1864	c.1701A>T	c.(1699-1701)gaA>gaT	p.E567D	BTK_ENST00000372880.1_Missense_Mutation_p.E391D	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	567	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> K (in XLA; severe). {ECO:0000269|PubMed:7633420}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACATCAGGACTTCCGGTGGGG	0.443									Agammaglobulinemia, X-linked																													uc004ehg.2		NA																	0				lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CM014844	BTK	M	rs146681416	c.(1699-1701)GAA>GAT		Bruton agammaglobulinemia tyrosine kinase							113.0	108.0	110.0					X																	100608907		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100608907T>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1701A>T	X.37:g.100608907T>A	ENSP00000308176:p.Glu567Asp					BTK_uc004ehf.2_Missense_Mutation_p.E67D|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.E43D|BTK_uc010nnm.2_Missense_Mutation_p.E137D|BTK_uc010nnn.2_Missense_Mutation_p.E391D|BTK_uc010nno.2_Missense_Mutation_p.E601D|BTK_uc004ehh.1_RNA	p.E567D	NM_000061	NP_000052	Q06187	BTK_HUMAN			17	1894	-			567		E -> K (in XLA; severe).	Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1701A>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664468	0.67700	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372860;ENST00000308731	D;D	0.97279	-2.1;-4.32	5.46	3.09	0.35607	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	H	0.97829	4.085	0.58432	D	0.999999	D;D;D;D	0.89917	0.986;1.0;0.997;0.998	D;D;D;D	0.97110	0.985;1.0;0.997;0.992	D	0.97442	1.0022	10	0.87932	D	0	.	7.4952	0.27485	0.0:0.2461:0.0:0.7539	.	391;238;142;567	Q5JY90;Q3MS96;Q572P5;Q06187	.;.;.;BTK_HUMAN	D	391;116;142;567	ENSP00000361971:E391D;ENSP00000308176:E567D	ENSP00000308176:E567D	E	-	3	2	BTK	100495563	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	1.290000	0.33319	0.246000	0.21394	0.486000	0.48141	GAA		0.443	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		6	93	0	0	0	0	6	93				
TCEAL2	140597	broad.mit.edu	37	X	101381993	101381993	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101381993C>T	ENST00000372780.1	+	3	410	c.191C>T	c.(190-192)cCa>cTa	p.P64L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P64L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAAGAAAAGCCagagagtgcg	0.468																																						uc004eip.2		NA																	0					0						c.(190-192)CCA>CTA		transcription elongation factor A (SII)-like 2							69.0	63.0	65.0					X																	101381993		2203	4300	6503	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101381993C>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.191C>T	X.37:g.101381993C>T	ENSP00000361866:p.Pro64Leu						p.P64L	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN			3	410	+			64					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.191C>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016706	0.35606	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.34072	1.38;1.38	3.52	-0.89	0.10577	.	1.007230	0.08001	N	0.988843	T	0.37046	0.0989	M	0.77103	2.36	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.37361	-0.9709	10	0.39692	T	0.17	.	6.8587	0.24054	0.0:0.425:0.0:0.575	.	64	Q9H3H9	TCAL2_HUMAN	L	64	ENSP00000361866:P64L;ENSP00000332359:P64L	ENSP00000332359:P64L	P	+	2	0	TCEAL2	101268649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.636000	0.05465	-0.369000	0.08028	0.594000	0.82650	CCA		0.468	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		8	16	0	0	0	0	8	16				
ARMCX5	64860	broad.mit.edu	37	X	101857875	101857875	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101857875C>T	ENST00000604957.1	+	1	3428	c.806C>T	c.(805-807)cCt>cTt	p.P269L	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.P269L|ARMCX5_ENST00000537008.1_Missense_Mutation_p.P269L|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.P269L|ARMCX5_ENST00000541409.1_Missense_Mutation_p.P269L|ARMCX5_ENST00000372742.1_Missense_Mutation_p.P269L	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	269										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAGATCCCACCTTATCATGGG	0.488																																						uc004ejg.2		NA																	0				ovary(1)	1						c.(805-807)CCT>CTT		armadillo repeat containing, X-linked 5							102.0	95.0	97.0					X																	101857875		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857875C>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.806C>T	X.37:g.101857875C>T	ENSP00000474720:p.Pro269Leu					ARMCX5_uc004ejh.2_Missense_Mutation_p.P269L	p.P269L	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1687	+			269					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.806C>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219219	0.39201	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	3.9	3.03	0.35002	.	0.000000	0.41823	D	0.000814	T	0.15565	0.0375	N	0.19112	0.55	0.42767	D	0.993824	D	0.64830	0.994	P	0.59012	0.85	T	0.18116	-1.0347	10	0.09843	T	0.71	-6.0388	6.4509	0.21903	0.0:0.8665:0.0:0.1335	.	269	Q6P1M9	ARMX5_HUMAN	L	269	ENSP00000246174:P269L;ENSP00000439001:P269L;ENSP00000446385:P269L;ENSP00000445851:P269L;ENSP00000361827:P269L	ENSP00000246174:P269L	P	+	2	0	ARMCX5	101744531	0.696000	0.27757	0.997000	0.53966	0.959000	0.62525	0.591000	0.23969	1.015000	0.39444	0.600000	0.82982	CCT		0.488	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		10	119	0	0	0	0	10	119				
GPRASP1	9737	broad.mit.edu	37	X	101910570	101910570	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:101910570G>A	ENST00000361600.5	+	5	2530	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	GPRASP1_ENST00000415986.1_Missense_Mutation_p.E577K|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E577K|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E577K	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	577	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTGAAGAAGAGACAATATT	0.507																																						uc004ejj.3		NA																	0				ovary(1)|lung(1)	2						c.(1729-1731)GAG>AAG		G protein-coupled receptor associated sorting							87.0	95.0	93.0					X																	101910570		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910570G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1729G>A	X.37:g.101910570G>A	ENSP00000355146:p.Glu577Lys					GPRASP1_uc004eji.3_Missense_Mutation_p.E577K|GPRASP1_uc010nod.2_Missense_Mutation_p.E577K	p.E577K	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	2530	+			577			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1729G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080230	0.36662	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	2.76	2.76	0.32466	.	.	.	.	.	T	0.10337	0.0253	L	0.55990	1.75	0.09310	N	1	P	0.40970	0.734	B	0.37015	0.239	T	0.16364	-1.0405	9	0.27082	T	0.32	-0.0545	8.3338	0.32202	0.0:0.0:1.0:0.0	.	577	Q5JY77	GASP1_HUMAN	K	577	ENSP00000393691:E577K;ENSP00000409420:E577K;ENSP00000355146:E577K;ENSP00000445683:E577K	ENSP00000355146:E577K	E	+	1	0	GPRASP1	101797226	0.683000	0.27633	0.173000	0.22940	0.772000	0.43724	3.613000	0.54152	1.685000	0.51034	0.519000	0.50382	GAG		0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		22	157	0	0	0	0	22	157				
RAB40AL	282808	broad.mit.edu	37	X	102192824	102192824	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:102192824A>G	ENST00000218249.5	+	1	625	c.578A>G	c.(577-579)cAa>cGa	p.Q193R	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	193	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CTGAGCTTGCAAGACCTCTGC	0.567																																						uc004ejs.2		NA																	0				ovary(2)	2						c.(577-579)CAA>CGA		RAB40A, member RAS oncogene family-like							69.0	52.0	58.0					X																	102192824		2203	4300	6503	SO:0001583	missense	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192824A>G	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.578A>G	X.37:g.102192824A>G	ENSP00000218249:p.Gln193Arg						p.Q193R	NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN			1	625	+			193			SOCS box.		Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	c.578A>G	CCDS35353.1	.	.	.	.	.	.	.	.	.	.	.	19.91	3.915353	0.73098	.	.	ENSG00000102128	ENST00000218249	T	0.59502	0.26	0.819	0.819	0.18785	SOCS protein, C-terminal (4);	0.000000	0.44097	U	0.000482	T	0.71178	0.3309	M	0.82716	2.605	0.54753	D	0.999988	D	0.67145	0.996	D	0.85130	0.997	T	0.69487	-0.5132	10	0.66056	D	0.02	.	5.6153	0.17428	0.9999:0.0:1.0E-4:0.0	.	193	P0C0E4	RB40L_HUMAN	R	193	ENSP00000218249:Q193R	ENSP00000218249:Q193R	Q	+	2	0	RAB40AL	102079480	1.000000	0.71417	0.665000	0.29768	0.618000	0.37518	6.258000	0.72487	0.563000	0.29222	0.376000	0.23039	CAA		0.567	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		21	46	0	0	0	0	21	46				
NGFRAP1	27018	broad.mit.edu	37	X	102632528	102632528	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:102632528C>A	ENST00000372645.3	+	3	436	c.109C>A	c.(109-111)Cgg>Agg	p.R37R	NGFRAP1_ENST00000372635.1_Silent_p.R37R|NGFRAP1_ENST00000299872.7_Silent_p.R37R|NGFRAP1_ENST00000372634.1_Silent_p.R27R|NGFRAP1_ENST00000361298.4_Silent_p.R27R			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	37					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGGAAATCGACGGGGACAGGC	0.522																																						uc004eki.2		NA																	0					0						c.(109-111)CGG>AGG		nerve growth factor receptor (TNFRSF16)							173.0	164.0	167.0					X																	102632528		2203	4300	6503	SO:0001819	synonymous_variant	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632528C>A	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.109C>A	X.37:g.102632528C>A						NGFRAP1_uc004ekh.2_Silent_p.R27R|NGFRAP1_uc004ekj.1_Silent_p.R37R	p.R37R	NM_206915	NP_996798	Q00994	BEX3_HUMAN			3	491	+			37					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Silent	SNP	ENST00000372645.3	37	c.109C>A	CCDS14508.1																																																																																				0.522	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		14	193	1	0	1.05e-09	2.07e-09	14	193				
IL1RAPL2	26280	broad.mit.edu	37	X	105011308	105011308	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:105011308C>G	ENST00000372582.1	+	11	2471	c.1715C>G	c.(1714-1716)tCc>tGc	p.S572C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.S572C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	572					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTCTGGACTCCGCAGAACAA	0.438																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(1714-1716)TCC>TGC		interleukin 1 receptor accessory protein-like 2							85.0	83.0	84.0					X																	105011308		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011308C>G	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1715C>G	X.37:g.105011308C>G	ENSP00000361663:p.Ser572Cys						p.S572C	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2471	+			572			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1715C>G	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729008	0.30684	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04809	3.83;3.83;3.55	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	T	0.15219	0.0367	L	0.57536	1.79	0.49213	D	0.999764	D	0.69078	0.997	P	0.61328	0.887	T	0.00186	-1.1942	10	0.48119	T	0.1	.	13.4982	0.61438	0.0:0.8481:0.1519:0.0	.	572	Q9NP60	IRPL2_HUMAN	C	572;572;177	ENSP00000361663:S572C;ENSP00000344976:S572C;ENSP00000445576:S177C	ENSP00000344976:S572C	S	+	2	0	IL1RAPL2	104897964	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	3.620000	0.54203	2.425000	0.82216	0.600000	0.82982	TCC		0.438	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		12	101	0	0	0	0	12	101				
MID2	11043	broad.mit.edu	37	X	107148729	107148729	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107148729G>C	ENST00000262843.6	+	5	1494	c.946G>C	c.(946-948)Gca>Cca	p.A316P	MID2_ENST00000443968.2_Missense_Mutation_p.A316P|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	316					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GAGAAAGTTGGCACAGCAGGT	0.373																																						uc004enl.2		NA																	0				ovary(1)	1						c.(946-948)GCA>CCA		midline 2 isoform 1							119.0	104.0	109.0					X																	107148729		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107148729G>C		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.946G>C	X.37:g.107148729G>C	ENSP00000262843:p.Ala316Pro					MID2_uc004enk.2_Missense_Mutation_p.A316P	p.A316P	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			5	1519	+			316					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.946G>C	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314554	0.81358	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.60672	0.17;0.19	5.79	4.91	0.64330	B-box, C-terminal (1);	0.156649	0.56097	D	0.000024	T	0.71160	0.3307	M	0.65975	2.015	0.58432	D	0.999996	D;D	0.69078	0.997;0.98	D;P	0.66351	0.943;0.782	T	0.71530	-0.4565	10	0.45353	T	0.12	.	12.8028	0.57596	0.0:0.0:0.8356:0.1644	.	316;316	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	P	316	ENSP00000262843:A316P;ENSP00000413976:A316P	ENSP00000262843:A316P	A	+	1	0	MID2	107035385	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.197000	0.94985	1.167000	0.42706	0.600000	0.82982	GCA		0.373	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		7	111	0	0	0	0	7	111				
IRS4	8471	broad.mit.edu	37	X	107977922	107977922	+	Silent	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107977922G>T	ENST00000372129.2	-	1	1729	c.1653C>A	c.(1651-1653)ggC>ggA	p.G551G	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	551					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCTGCGGTGCCCTGGCCAT	0.642																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1651-1653)GGC>GGA		insulin receptor substrate 4							119.0	121.0	120.0					X																	107977922		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977922G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1653C>A	X.37:g.107977922G>T							p.G551G	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1686	-			551						Silent	SNP	ENST00000372129.2	37	c.1653C>A	CCDS14544.1																																																																																				0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		15	164	1	0	0.00244969	0.00410493	15	164				
IRS4	8471	broad.mit.edu	37	X	107978169	107978169	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107978169C>A	ENST00000372129.2	-	1	1482	c.1406G>T	c.(1405-1407)gGg>gTg	p.G469V	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	469					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCTTCCTCCCCAAAGTTGCC	0.582																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1405-1407)GGG>GTG		insulin receptor substrate 4							102.0	96.0	98.0					X																	107978169		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978169C>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1406G>T	X.37:g.107978169C>A	ENSP00000361202:p.Gly469Val						p.G469V	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1439	-			469						Missense_Mutation	SNP	ENST00000372129.2	37	c.1406G>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	2.283	-0.364184	0.05103	.	.	ENSG00000133124	ENST00000372129	T	0.33654	1.4	4.1	0.237	0.15475	.	1.085870	0.07068	N	0.834903	T	0.18509	0.0444	N	0.24115	0.695	0.36718	D	0.881029	P	0.46277	0.875	B	0.36719	0.231	T	0.37314	-0.9711	10	0.11794	T	0.64	-0.0437	5.8899	0.18904	0.0:0.5965:0.1458:0.2577	.	469	O14654	IRS4_HUMAN	V	469	ENSP00000361202:G469V	ENSP00000361202:G469V	G	-	2	0	IRS4	107864825	0.941000	0.31946	0.004000	0.12327	0.209000	0.24338	0.041000	0.13927	-0.080000	0.12685	-0.196000	0.12772	GGG		0.582	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		14	119	1	0	1.58e-08	3.07e-08	14	119				
ACSL4	2182	broad.mit.edu	37	X	108921236	108921236	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:108921236G>A	ENST00000469796.2	-	8	1430	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	ACSL4_ENST00000348502.6_Missense_Mutation_p.P304L|ACSL4_ENST00000340800.2_Missense_Mutation_p.P345L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	345					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GAGTGTAAGCGGAGAAGAATA	0.428																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1033-1035)CCG>CTG		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						141.0	126.0	131.0					X																	108921236		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108921236G>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1034C>T	X.37:g.108921236G>A	ENSP00000419171:p.Pro345Leu					ACSL4_uc004eoj.2_Missense_Mutation_p.P304L|ACSL4_uc004eok.2_Missense_Mutation_p.P304L|ACSL4_uc010npp.1_Missense_Mutation_p.P345L	p.P345L	NM_022977	NP_075266	O60488	ACSL4_HUMAN			9	1539	-			345			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1034C>T	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964228	0.92791	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.42513	0.97;0.97;0.97	5.68	5.68	0.88126	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70037	-0.4982	10	0.56958	D	0.05	-9.1437	18.8752	0.92332	0.0:0.0:1.0:0.0	.	345	O60488	ACSL4_HUMAN	L	304;345;345	ENSP00000262835:P304L;ENSP00000419171:P345L;ENSP00000339787:P345L	ENSP00000339787:P345L	P	-	2	0	ACSL4	108807892	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.865000	0.99609	2.404000	0.81709	0.597000	0.82753	CCG		0.428	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		6	67	0	0	0	0	6	67				
AMOT	154796	broad.mit.edu	37	X	112025794	112025794	+	Silent	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:112025794A>G	ENST00000524145.1	-	9	2288	c.2214T>C	c.(2212-2214)aaT>aaC	p.N738N	AMOT_ENST00000371962.1_Silent_p.N506N|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371958.1_Silent_p.N506N|AMOT_ENST00000304758.1_Silent_p.N329N|AMOT_ENST00000371959.3_Silent_p.N738N			Q4VCS5	AMOT_HUMAN	angiomotin	738					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGCAACGCTTATTGGCCATCA	0.463																																						uc004epr.2		NA																	0				ovary(1)	1						c.(2212-2214)AAT>AAC		angiomotin isoform 1							196.0	159.0	172.0					X																	112025794		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112025794A>G	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2214T>C	X.37:g.112025794A>G						AMOT_uc004eps.2_Silent_p.N329N|AMOT_uc011mtc.1_5'Flank|hsa-mir-4329|MI0015901_5'Flank	p.N738N	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			8	2214	-			738			Potential.		Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.2214T>C	CCDS48154.1																																																																																				0.463	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		5	64	0	0	0	0	5	64				
AKAP14	158798	broad.mit.edu	37	X	119054534	119054534	+	Silent	SNP	C	C	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:119054534C>T	ENST00000371431.3	+	7	832	c.558C>T	c.(556-558)ttC>ttT	p.F186F	RP3-327A19.5_ENST00000455986.1_RNA|AKAP14_ENST00000334356.2_Silent_p.F126F|AKAP14_ENST00000371425.4_Silent_p.F126F|AKAP14_ENST00000371423.2_Silent_p.F127F|AKAP14_ENST00000491105.1_3'UTR	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	186					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						AATATAGTTTCATGGAGTCAT	0.353																																						uc004ese.2		NA																	0					0						c.(556-558)TTC>TTT		A kinase (PRKA) anchor protein 14 isoform a							167.0	127.0	141.0					X																	119054534		2203	4300	6503	SO:0001819	synonymous_variant	158798					cytoplasm		g.chrX:119054534C>T	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.558C>T	X.37:g.119054534C>T						AKAP14_uc004esf.2_Silent_p.F126F	p.F186F	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN			7	696	+			186					A6NNZ0|Q86UN4|Q86UN5	Silent	SNP	ENST00000371431.3	37	c.558C>T	CCDS14591.1																																																																																				0.353	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		9	53	0	0	0	0	9	53				
GLUD2	2747	broad.mit.edu	37	X	120183197	120183197	+	Silent	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:120183197T>C	ENST00000328078.1	+	1	1736	c.1659T>C	c.(1657-1659)gcT>gcC	p.A553A		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	553					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ACAGTGAAGCTGGTGTGACCT	0.433																																						uc004eto.2		NA																	0				pancreas(1)	1						c.(1657-1659)GCT>GCC		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						198.0	159.0	172.0					X																	120183197		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120183197T>C	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1659T>C	X.37:g.120183197T>C							p.A553A	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1736	+			553					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.1659T>C	CCDS14603.1																																																																																				0.433	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		20	108	0	0	0	0	20	108				
SH2D1A	4068	broad.mit.edu	37	X	123504074	123504074	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:123504074A>T	ENST00000371139.4	+	3	549	c.250A>T	c.(250-252)Att>Ttt	p.I84F	SH2D1A_ENST00000360027.4_Missense_Mutation_p.I84F|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000477673.2_Intron|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	84	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		I -> T (in XLP1; reduced protein stability). {ECO:0000269|PubMed:16720617}.		cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAAAAATCTCATTTCAGCATT	0.368																																						uc004euf.3		NA																	0					0						c.(250-252)ATT>TTT		SH2 domain protein 1A isoform 1							118.0	114.0	116.0					X																	123504074		2203	4300	6503	SO:0001583	missense	4068	X-linked_Lymphoproliferative_syndrome			cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123504074A>T	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.250A>T	X.37:g.123504074A>T	ENSP00000360181:p.Ile84Phe					SH2D1A_uc004euh.3_Missense_Mutation_p.I84F|SH2D1A_uc004eug.3_Intron|SH2D1A_uc010nqw.2_Intron|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron	p.I84F	NM_002351	NP_002342	O60880	SH21A_HUMAN			3	595	+			84		I -> T (in XLP1; reduced protein stability).	SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.250A>T	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129822	0.77549	.	.	ENSG00000183918	ENST00000371139;ENST00000360027	D;D	0.99186	-5.53;-5.53	5.23	5.23	0.72850	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.98444	1.0588	10	0.87932	D	0	-24.6117	13.2879	0.60253	1.0:0.0:0.0:0.0	.	84;84	O60880-4;O60880	.;SH21A_HUMAN	F	84	ENSP00000360181:I84F;ENSP00000353126:I84F	ENSP00000353126:I84F	I	+	1	0	SH2D1A	123331755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.537000	0.67186	1.730000	0.51580	0.481000	0.45027	ATT		0.368	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		15	107	0	0	0	0	15	107				
TENM1	10178	broad.mit.edu	37	X	123805604	123805604	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:123805604C>A	ENST00000371130.3	-	6	1160	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	TENM1_ENST00000422452.2_Missense_Mutation_p.R366M	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	366					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCGGTCCCCCTGTTCCCTTT	0.438																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1096-1098)AGG>ATG		odz, odd Oz/ten-m homolog 1 isoform 3							209.0	177.0	188.0					X																	123805604		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123805604C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1097G>T	X.37:g.123805604C>A	ENSP00000360171:p.Arg366Met					ODZ1_uc011muj.1_Missense_Mutation_p.R365M|ODZ1_uc010nqy.2_Missense_Mutation_p.R366M	p.R366M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			6	1161	-			366			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1097G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258538	0.39896	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85702	-2.02;-1.98	5.97	5.08	0.68730	.	0.285709	0.34932	N	0.003568	T	0.73651	0.3614	N	0.22421	0.69	0.29606	N	0.847314	B;B;B	0.31519	0.327;0.327;0.033	B;B;B	0.31191	0.125;0.087;0.055	T	0.69390	-0.5158	10	0.48119	T	0.1	.	7.1285	0.25486	0.0:0.6654:0.2092:0.1254	.	365;366;366	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	M	366	ENSP00000360171:R366M;ENSP00000403954:R366M	ENSP00000360171:R366M	R	-	2	0	ODZ1	123633285	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.079000	0.30766	1.158000	0.42547	0.594000	0.82650	AGG		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		27	169	1	0	1.55e-18	3.3e-18	27	169				
DCAF12L2	340578	broad.mit.edu	37	X	125299012	125299012	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:125299012A>T	ENST00000360028.2	-	1	922	c.896T>A	c.(895-897)cTg>cAg	p.L299Q	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.L299Q			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	299										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGATGGACAGGAGCCTGGA	0.612																																						uc004euk.1		NA																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(895-897)CTG>CAG		DDB1 and CUL4 associated factor 12-like 2							94.0	98.0	97.0					X																	125299012		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299012A>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.896T>A	X.37:g.125299012A>T	ENSP00000353128:p.Leu299Gln						p.L299Q	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	923	-			299			WD 3.		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.896T>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.444710	0.25987	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63255	-0.03;-0.03	3.95	3.95	0.45737	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.29106	N	0.013133	T	0.54319	0.1851	M	0.67953	2.075	0.40368	D	0.979315	B	0.29988	0.264	B	0.23150	0.044	T	0.56511	-0.7967	10	0.37606	T	0.19	.	8.2932	0.31969	1.0:0.0:0.0:0.0	.	299	Q5VW00	DC122_HUMAN	Q	299	ENSP00000441489:L299Q;ENSP00000353128:L299Q	ENSP00000353128:L299Q	L	-	2	0	DCAF12L2	125126693	1.000000	0.71417	0.543000	0.28128	0.365000	0.29674	7.614000	0.82996	1.776000	0.52262	0.441000	0.28932	CTG		0.612	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		22	107	0	0	0	0	22	107				
DCAF12L1	139170	broad.mit.edu	37	X	125685234	125685234	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:125685234C>A	ENST00000371126.1	-	1	1600	c.1358G>T	c.(1357-1359)gGc>gTc	p.G453V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	453										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						CCCATGGAGGCCTGCAGGGAG	0.557																																						uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(1357-1359)GGC>GTC		DDB1 and CUL4 associated factor 12-like 1							71.0	72.0	71.0					X																	125685234		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685234C>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1358G>T	X.37:g.125685234C>A	ENSP00000360167:p.Gly453Val						p.G453V	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1609	-			453					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1358G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271727	0.23221	.	.	ENSG00000198889	ENST00000371126	T	0.19806	2.12	3.85	-0.015	0.13978	.	0.000000	0.36778	N	0.002415	T	0.13372	0.0324	L	0.41824	1.3	0.49915	D	0.999837	B	0.21381	0.055	B	0.12837	0.008	T	0.07849	-1.0751	10	0.62326	D	0.03	.	4.0721	0.09887	0.1663:0.5278:0.0:0.3059	.	453	Q5VU92	DC121_HUMAN	V	453	ENSP00000360167:G453V	ENSP00000360167:G453V	G	-	2	0	DCAF12L1	125512915	1.000000	0.71417	0.016000	0.15963	0.904000	0.53231	3.242000	0.51384	-0.143000	0.11334	0.513000	0.50165	GGC		0.557	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		5	104	1	0	5.94e-07	1.11e-06	5	104				
ENOX2	10495	broad.mit.edu	37	X	129759343	129759343	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:129759343G>T	ENST00000370927.1	-	13	1799	c.1778C>A	c.(1777-1779)gCc>gAc	p.A593D	ENOX2_ENST00000394363.1_Missense_Mutation_p.A564D|ENOX2_ENST00000370935.1_Missense_Mutation_p.A564D|ENOX2_ENST00000338144.3_Missense_Mutation_p.A593D			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	593					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCCAGGCTGGCTCCAACTCC	0.478																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NA																	0				ovary(1)	1						c.(1777-1779)GCC>GAC		ecto-NOX disulfide-thiol exchanger 2 isoform b							122.0	93.0	103.0					X																	129759343		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759343G>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1778C>A	X.37:g.129759343G>T	ENSP00000359965:p.Ala593Asp					ENOX2_uc004evx.2_Missense_Mutation_p.A564D|ENOX2_uc004evy.2_Missense_Mutation_p.A564D|ENOX2_uc004evv.2_Missense_Mutation_p.A418D	p.A593D	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			16	2196	-			593					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1778C>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193891	0.78902	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.71036	2.16	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79145	-0.1924	9	0.87932	D	0	-6.5313	12.5197	0.56052	0.0:0.0:1.0:0.0	.	593;621	Q16206;A4QPE1	ENOX2_HUMAN;.	D	564;593;564;621;593	.	ENSP00000337146:A593D	A	-	2	0	ENOX2	129587024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.587000	0.90810	2.447000	0.82792	0.538000	0.68166	GCC		0.478	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		6	76	1	0	2.77e-08	5.33e-08	6	76				
IGSF1	3547	broad.mit.edu	37	X	130416528	130416528	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:130416528A>T	ENST00000361420.3	-	7	1215	c.1136T>A	c.(1135-1137)cTc>cAc	p.L379H	IGSF1_ENST00000370903.3_Missense_Mutation_p.L379H|IGSF1_ENST00000370904.1_Missense_Mutation_p.L370H|IGSF1_ENST00000370910.1_Missense_Mutation_p.L370H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	379	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TACATTGTTGAGGAAGAATGA	0.453																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1135-1137)CTC>CAC		immunoglobulin superfamily, member 1 isoform 1							194.0	154.0	167.0					X																	130416528		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416528A>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1136T>A	X.37:g.130416528A>T	ENSP00000355010:p.Leu379His					IGSF1_uc004ewe.3_Missense_Mutation_p.L368H|IGSF1_uc004ewf.2_Missense_Mutation_p.L359H	p.L379H	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			7	1374	-			379			Ig-like C2-type 4.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1136T>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004847	0.35415	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01092	5.35;5.35;5.35;5.35	4.63	4.63	0.57726	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.488989	0.17430	N	0.174514	T	0.08179	0.0204	M	0.90145	3.09	0.36860	D	0.88834	D;D	0.76494	0.999;0.999	D;D	0.85130	0.992;0.997	T	0.01015	-1.1480	10	0.87932	D	0	.	9.4909	0.38960	1.0:0.0:0.0:0.0	.	370;379	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	H	370;379;370;379	ENSP00000359947:L370H;ENSP00000355010:L379H;ENSP00000359941:L370H;ENSP00000359940:L379H	ENSP00000355010:L379H	L	-	2	0	IGSF1	130244209	1.000000	0.71417	0.998000	0.56505	0.073000	0.16967	4.194000	0.58393	1.842000	0.53543	0.481000	0.45027	CTC		0.453	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			12	48	0	0	0	0	12	48				
IGSF1	3547	broad.mit.edu	37	X	130417184	130417184	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:130417184C>A	ENST00000361420.3	-	6	801	c.722G>T	c.(721-723)gGa>gTa	p.G241V	IGSF1_ENST00000370903.3_Missense_Mutation_p.G241V|IGSF1_ENST00000370904.1_Missense_Mutation_p.G232V|IGSF1_ENST00000370910.1_Missense_Mutation_p.G232V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	241	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGCTTTCTCCAGGTGCCAT	0.478																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(721-723)GGA>GTA		immunoglobulin superfamily, member 1 isoform 1							70.0	68.0	68.0					X																	130417184		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130417184C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.722G>T	X.37:g.130417184C>A	ENSP00000355010:p.Gly241Val					IGSF1_uc004ewe.3_Missense_Mutation_p.G230V|IGSF1_uc004ewf.2_Missense_Mutation_p.G221V	p.G241V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			6	960	-			241			Ig-like C2-type 3.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.722G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243003	0.58995	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01538	4.79;4.79;4.79;4.79	4.46	2.68	0.31781	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000315	T	0.10465	0.0256	M	0.91561	3.22	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.00184	-1.1944	10	0.87932	D	0	.	5.5047	0.16848	0.0:0.7489:0.0:0.2511	.	232;241	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	V	232;241;232;241	ENSP00000359947:G232V;ENSP00000355010:G241V;ENSP00000359941:G232V;ENSP00000359940:G241V	ENSP00000355010:G241V	G	-	2	0	IGSF1	130244865	0.664000	0.27457	1.000000	0.80357	0.998000	0.95712	1.990000	0.40717	1.034000	0.39945	0.594000	0.82650	GGA		0.478	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			17	52	1	0	2e-07	3.79e-07	17	52				
FRMD7	90167	broad.mit.edu	37	X	131228105	131228105	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:131228105T>C	ENST00000298542.4	-	5	522	c.347A>G	c.(346-348)aAc>aGc	p.N116S	FRMD7_ENST00000464296.1_Missense_Mutation_p.N101S|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	116	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CGCTGTACAGTTGTCACTGCA	0.423													T|||	1	0.000264901	0.0	0.0	3775	,	,		15552	0.001		0.0	False		,,,				2504	0.0					uc004ewn.2		NA																	0				skin(1)	1						c.(346-348)AAC>AGC		FERM domain containing 7							197.0	163.0	175.0					X																	131228105		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131228105T>C	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.347A>G	X.37:g.131228105T>C	ENSP00000298542:p.Asn116Ser					FRMD7_uc011muy.1_Missense_Mutation_p.N101S	p.N116S	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			5	525	-	Acute lymphoblastic leukemia(192;0.000127)		116			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.347A>G	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.203966	0.58234	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.76968	-1.06;-1.06	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.045975	0.85682	D	0.000000	T	0.76659	0.4018	L	0.42744	1.35	0.80722	D	1	B;P	0.41784	0.421;0.762	B;P	0.48815	0.254;0.591	T	0.73388	-0.3998	10	0.24483	T	0.36	.	13.3334	0.60503	0.0:0.0:0.0:1.0	.	101;116	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	S	116;101	ENSP00000298542:N116S;ENSP00000417996:N101S	ENSP00000298542:N116S	N	-	2	0	FRMD7	131055786	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.117000	0.50407	1.810000	0.52873	0.430000	0.28490	AAC		0.423	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		13	126	0	0	0	0	13	126				
FAM122C	159091	broad.mit.edu	37	X	133979247	133979247	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:133979247G>A	ENST00000370784.4	+	4	665	c.259G>A	c.(259-261)Gat>Aat	p.D87N	FAM122C_ENST00000370785.3_Missense_Mutation_p.D87N|FAM122C_ENST00000445123.1_Missense_Mutation_p.D2N	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	87										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					AGAAGCCATGGATTTAATAAA	0.284																																						uc004exz.1		NA																	0					0						c.(259-261)GAT>AAT		hypothetical protein LOC159091							107.0	117.0	114.0					X																	133979247		2203	4286	6489	SO:0001583	missense	159091							g.chrX:133979247G>A	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.259G>A	X.37:g.133979247G>A	ENSP00000359820:p.Asp87Asn					FAM122C_uc011mvq.1_RNA|FAM122C_uc004exy.1_Missense_Mutation_p.D87N	p.D87N	NM_138819	NP_620174	Q6P4D5	F222C_HUMAN			4	664	+	Acute lymphoblastic leukemia(192;0.000127)		87					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.259G>A	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	G	7.879	0.729745	0.15507	.	.	ENSG00000156500	ENST00000370784;ENST00000370785;ENST00000445123	T;T;T	0.60171	0.21;0.21;0.21	5.21	1.38	0.22167	.	0.143108	0.64402	N	0.000010	T	0.45316	0.1336	L	0.46670	1.46	0.09310	N	1	B;B	0.18461	0.01;0.028	B;B	0.17098	0.011;0.017	T	0.38436	-0.9661	10	0.62326	D	0.03	-2.5101	6.0801	0.19936	0.2523:0.0:0.6133:0.1344	.	87;87	Q6P4D5;Q6P4D5-2	F222C_HUMAN;.	N	87;87;2	ENSP00000359820:D87N;ENSP00000359821:D87N;ENSP00000389955:D2N	ENSP00000359820:D87N	D	+	1	0	FAM122C	133806913	0.979000	0.34478	0.001000	0.08648	0.001000	0.01503	0.835000	0.27531	-0.320000	0.08640	-2.289000	0.00267	GAT		0.284	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		17	145	0	0	0	0	17	145				
DDX26B	203522	broad.mit.edu	37	X	134681181	134681181	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:134681181A>G	ENST00000370752.4	+	6	1067	c.733A>G	c.(733-735)Att>Gtt	p.I245V	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	245										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTCCTATTGGAGAAGG	0.308																																						uc004eyw.3		NA																	0					0						c.(733-735)ATT>GTT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							112.0	115.0	114.0					X																	134681181		2203	4297	6500	SO:0001583	missense	203522							g.chrX:134681181A>G	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.733A>G	X.37:g.134681181A>G	ENSP00000359788:p.Ile245Val						p.I245V	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			6	1096	+	Acute lymphoblastic leukemia(192;6.56e-05)		245					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.733A>G	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	A	8.850	0.944254	0.18356	.	.	ENSG00000165359	ENST00000370752	T	0.28069	1.63	5.42	-4.21	0.03812	von Willebrand factor, type A (1);	0.745481	0.12962	N	0.424888	T	0.07458	0.0188	N	0.04043	-0.29	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.33369	-0.9871	10	0.02654	T	1	-0.7562	0.7082	0.00920	0.3193:0.1276:0.3054:0.2477	.	245	Q5JSJ4	DX26B_HUMAN	V	245	ENSP00000359788:I245V	ENSP00000359788:I245V	I	+	1	0	DDX26B	134508847	0.602000	0.26916	0.993000	0.49108	0.995000	0.86356	0.049000	0.14099	-0.297000	0.08934	0.430000	0.28490	ATT		0.308	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		8	133	0	0	0	0	8	133				
RBMX	27316	broad.mit.edu	37	X	135961278	135961278	+	Silent	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:135961278G>A	ENST00000320676.7	-	3	268	c.114C>T	c.(112-114)ctC>ctT	p.L38L	RBMX_ENST00000562646.1_Silent_p.L38L|RBMX_ENST00000431446.3_Silent_p.L38L|RBMX_ENST00000565438.1_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	38	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTTCATCAAGAGTACTAAAA	0.378																																						uc004fae.1		NA																	0				ovary(1)	1						c.(112-114)CTC>CTT		RNA binding motif protein, X-linked isoform 1							109.0	102.0	104.0					X																	135961278		2203	4300	6503	SO:0001819	synonymous_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961278G>A		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.114C>T	X.37:g.135961278G>A						RBMX_uc011mwf.1_Silent_p.L38L|RBMX_uc004fad.1_Silent_p.L38L|RBMX_uc011mwg.1_5'UTR|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_5'UTR|RBMX_uc004fag.1_Intron	p.L38L	NM_002139	NP_002130	P38159	HNRPG_HUMAN			3	324	-	Acute lymphoblastic leukemia(192;0.000127)		38			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Silent	SNP	ENST00000320676.7	37	c.114C>T	CCDS14661.1																																																																																				0.378	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		9	108	0	0	0	0	9	108				
SOX3	6658	broad.mit.edu	37	X	139586788	139586788	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:139586788G>T	ENST00000370536.2	-	1	437	c.438C>A	c.(436-438)ttC>ttA	p.F146L		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	146					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ACCATACCATGAAGGCGTTCA	0.662																																						uc004fbd.1		NA																	0				pancreas(1)	1						c.(436-438)TTC>TTA		SRY (sex determining region Y)-box 3							41.0	42.0	42.0					X																	139586788		2203	4300	6503	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586788G>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.438C>A	X.37:g.139586788G>T	ENSP00000359567:p.Phe146Leu						p.F146L	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	438	-	Acute lymphoblastic leukemia(192;7.65e-05)		146			HMG box.		P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.438C>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	g	19.70	3.875774	0.72180	.	.	ENSG00000134595	ENST00000370536	D	0.99239	-5.61	4.12	3.25	0.37280	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.99396	0.9787	H	0.94847	3.59	0.80722	D	1	P	0.48764	0.915	D	0.63381	0.914	D	0.99632	1.0986	9	.	.	.	.	7.34	0.26632	0.2094:0.0:0.7906:0.0	.	146	P41225	SOX3_HUMAN	L	146	ENSP00000359567:F146L	.	F	-	3	2	SOX3	139414454	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.352000	0.59404	0.558000	0.29135	0.525000	0.51046	TTC		0.662	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			18	34	1	0	0.00498961	0.00826654	18	34				
MAGEC3	139081	broad.mit.edu	37	X	140926157	140926157	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:140926157G>T	ENST00000298296.1	+	1	56	c.56G>T	c.(55-57)gGc>gTc	p.G19V		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	19										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)					GGCAGTCTAGGCCAGTGGGTG	0.542																																						uc011mwp.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(55-57)GGC>GTC		melanoma antigen family C, 3 isoform 1							117.0	83.0	94.0					X																	140926157		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140926157G>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.56G>T	X.37:g.140926157G>T	ENSP00000298296:p.Gly19Val						p.G19V	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			1	56	+	Acute lymphoblastic leukemia(192;6.56e-05)		19					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.56G>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	G	8.986	0.976586	0.18736	.	.	ENSG00000165509	ENST00000298296	T	0.09445	2.98	0.427	0.427	0.16489	.	.	.	.	.	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.55303	0.773	T	0.30563	-0.9974	8	0.87932	D	0	.	.	.	.	.	19	Q8TD91	MAGC3_HUMAN	V	19	ENSP00000298296:G19V	ENSP00000298296:G19V	G	+	2	0	MAGEC3	140753823	0.317000	0.24589	0.009000	0.14445	0.009000	0.06853	0.364000	0.20325	0.417000	0.25871	0.422000	0.28245	GGC		0.542	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		18	63	1	0	4.97e-08	9.51e-08	18	63				
MAGEC1	9947	broad.mit.edu	37	X	140994191	140994191	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:140994191C>A	ENST00000285879.4	+	4	1287	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	334										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)					GAGGGTTTTCCCCAGTCTCTT	0.463										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1000-1002)CCC>CAC		melanoma antigen family C, 1							116.0	118.0	118.0					X																	140994191		2202	4297	6499	SO:0001583	missense	9947						protein binding	g.chrX:140994191C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1001C>A	X.37:g.140994191C>A	ENSP00000285879:p.Pro334His	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P334H	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1287	+	Acute lymphoblastic leukemia(192;6.56e-05)		334					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1001C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.457	0.269421	0.10349	.	.	ENSG00000155495	ENST00000285879	T	0.02216	4.39	.	.	.	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.19945	N	0.999947	P	0.50156	0.932	P	0.47162	0.54	T	0.51434	-0.8706	8	0.87932	D	0	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	334	O60732	MAGC1_HUMAN	H	334	ENSP00000285879:P334H	ENSP00000285879:P334H	P	+	2	0	MAGEC1	140821857	0.346000	0.24844	0.153000	0.22517	0.154000	0.21943	0.742000	0.26216	0.148000	0.19059	0.150000	0.16122	CCC		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		40	187	1	0	1.07e-22	2.29e-22	40	187				
MAGEC2	51438	broad.mit.edu	37	X	141291018	141291018	+	Silent	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:141291018C>A	ENST00000247452.3	-	3	1103	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	252	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCATTCAGCACTTCCCAGA	0.517										HNSCC(46;0.14)																												uc004fbu.1		NA																	0				breast(2)	2						c.(754-756)GTG>GTT		melanoma antigen family C, 2							129.0	124.0	126.0					X																	141291018		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291018C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.756G>T	X.37:g.141291018C>A		HNSCC(46;0.14)					p.V252V	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1104	-	Acute lymphoblastic leukemia(192;6.56e-05)		252			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.756G>T	CCDS14678.1																																																																																				0.517	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		11	152	1	0	5.51e-06	1.01e-05	11	152				
MAGEA3	4102	broad.mit.edu	37	X	151935815	151935815	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:151935815G>T	ENST00000393902.3	-	3	919	c.352C>A	c.(352-354)Cat>Aat	p.H118N	MAGEA3_ENST00000370278.3_Missense_Mutation_p.H118N			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	118	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAAATGAACCAACTCG	0.537																																						uc004fgp.2		NA																	0					0						c.(352-354)CAT>AAT		melanoma antigen family A, 3							147.0	133.0	138.0					X																	151935815		2203	4292	6495	SO:0001583	missense	4102							g.chrX:151935815G>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.352C>A	X.37:g.151935815G>T	ENSP00000377480:p.His118Asn						p.H118N	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	561	-	Acute lymphoblastic leukemia(192;6.56e-05)		118			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.352C>A	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	1.525	-0.545869	0.04024	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.04551	3.6;3.6;3.6	1.42	-2.84	0.05751	.	1.330700	0.04850	N	0.442117	T	0.07234	0.0183	L	0.52266	1.64	0.09310	N	1	B	0.30211	0.273	B	0.41088	0.347	T	0.40175	-0.9577	10	0.22109	T	0.4	.	3.6739	0.08284	0.0:0.3207:0.3622:0.3171	.	118	P43357	MAGA3_HUMAN	N	118	ENSP00000359301:H118N;ENSP00000377480:H118N;ENSP00000392758:H118N	ENSP00000359301:H118N	H	-	1	0	MAGEA3	151686471	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.194000	0.03046	-1.836000	0.01190	-0.813000	0.03139	CAT		0.537	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		8	149	1	0	5.49e-09	1.07e-08	8	149				
L1CAM	3897	broad.mit.edu	37	X	153132810	153132810	+	Splice_Site	SNP	C	C	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153132810C>A	ENST00000370060.1	-	17	2327		c.e17+1		L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site|L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGACTCACCTGCCTCAGG	0.597																																						uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.e16+1		L1 cell adhesion molecule isoform 1 precursor							56.0	61.0	60.0					X																	153132810		2203	4298	6501	SO:0001630	splice_region_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132810C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2137+1G>T	X.37:g.153132810C>A						L1CAM_uc004fjc.2_Splice_Site_p.A713_splice|L1CAM_uc010nuo.2_Splice_Site_p.A708_splice	p.A713_splice	NM_000425	NP_000416	P32004	L1CAM_HUMAN			16	2245	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Splice_Site	SNP	ENST00000370060.1	37	c.2137_splice	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283486	0.40394	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000455590	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6983	0.62593	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	L1CAM	152786004	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	6.264000	0.72527	2.303000	0.77524	0.529000	0.55759	.		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Intron	9	110	1	0	1.13e-05	2.04e-05	9	110				
L1CAM	3897	broad.mit.edu	37	X	153132824	153132824	+	Silent	SNP	G	G	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153132824G>C	ENST00000370060.1	-	17	2313	c.2124C>G	c.(2122-2124)gtC>gtG	p.V708V	L1CAM_ENST00000361981.3_Silent_p.V703V|L1CAM_ENST00000370055.1_Silent_p.V703V|L1CAM_ENST00000543994.1_Silent_p.V710V|L1CAM_ENST00000361699.4_Silent_p.V708V|L1CAM_ENST00000370057.3_Silent_p.V708V|L1CAM_ENST00000538883.1_Silent_p.V710V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	708	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGGTGTGACCACAGTCT	0.607																																						uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(2122-2124)GTC>GTG		L1 cell adhesion molecule isoform 1 precursor							65.0	70.0	68.0					X																	153132824		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132824G>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2124C>G	X.37:g.153132824G>C						L1CAM_uc004fjc.2_Silent_p.V708V|L1CAM_uc010nuo.2_Silent_p.V703V	p.V708V	NM_000425	NP_000416	P32004	L1CAM_HUMAN			16	2232	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		708			Extracellular (Potential).		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.2124C>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	8.132	0.783330	0.16189	.	.	ENSG00000198910	ENST00000455590	.	.	.	5.59	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9746	0.19371	0.1014:0.0:0.6924:0.2062	.	.	.	.	X	129	.	.	S	-	2	0	L1CAM	152786018	0.991000	0.36638	0.914000	0.36105	0.893000	0.52053	0.910000	0.28571	0.491000	0.27793	0.529000	0.55759	TCA		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		7	120	0	0	0	0	7	120				
TKTL1	8277	broad.mit.edu	37	X	153539314	153539314	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153539314C>G	ENST00000369915.3	+	4	667	c.478C>G	c.(478-480)Cac>Gac	p.H160D	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.H104D	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	160					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCCTGGGACACAGTGGTGC	0.512																																						uc004fkg.2		NA																	0				ovary(3)|skin(1)	4						c.(478-480)CAC>GAC		transketolase-like 1 isoform a							137.0	108.0	118.0					X																	153539314		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153539314C>G	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.478C>G	X.37:g.153539314C>G	ENSP00000358931:p.His160Asp					TKTL1_uc011mzl.1_Missense_Mutation_p.H154D|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Missense_Mutation_p.H104D	p.H160D	NM_012253	NP_036385	P51854	TKTL1_HUMAN			4	664	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		160					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.478C>G	CCDS35448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.52|10.52	1.374445|1.374445	0.24857|0.24857	.|.	.|.	ENSG00000007350|ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000426989;ENST00000369912|ENST00000426203	T;T;T|.	0.21734|.	1.99;1.99;1.99|.	4.29|4.29	3.43|3.43	0.39272|0.39272	Transketolase, N-terminal (1);|.	0.110389|.	0.64402|.	D|.	0.000006|.	T|T	0.52805|0.52805	0.1757|0.1757	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	B;B|.	0.32893|.	0.389;0.389|.	B;B|.	0.39465|.	0.3;0.3|.	T|T	0.44726|0.44726	-0.9309|-0.9309	10|5	0.87932|.	D|.	0|.	-14.0089|-14.0089	10.7472|10.7472	0.46187|0.46187	0.0:0.9011:0.0:0.0989|0.0:0.9011:0.0:0.0989	.|.	154;160|.	B7Z7I0;P51854|.	.;TKTL1_HUMAN|.	D|R	160;104;160;104|142	ENSP00000358931:H160D;ENSP00000401111:H160D;ENSP00000358928:H104D|.	ENSP00000358928:H104D|.	H|T	+|+	1|2	0|0	TKTL1|TKTL1	153192508|153192508	0.999000|0.999000	0.42202|0.42202	0.056000|0.056000	0.19401|0.19401	0.071000|0.071000	0.16799|0.16799	3.654000|3.654000	0.54453|0.54453	0.935000|0.935000	0.37341|0.37341	-0.295000|-0.295000	0.09555|0.09555	CAC|ACA		0.512	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		7	75	0	0	0	0	7	75				
DKC1	1736	broad.mit.edu	37	X	153997472	153997472	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:153997472G>A	ENST00000369550.5	+	9	1012	c.802G>A	c.(802-804)Gat>Aat	p.D268N	SNORA36A_ENST00000384221.1_RNA|DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	268					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATGTGCTTGATGCTCAGTG	0.433									Congenital Dyskeratosis																													uc004fmm.2		NA																	0					0						c.(802-804)GAT>AAT		dyskerin isoform 1							230.0	194.0	206.0					X																	153997472		2203	4300	6503	SO:0001583	missense	1736	Congenital_Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153997472G>A	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.802G>A	X.37:g.153997472G>A	ENSP00000358563:p.Asp268Asn					DKC1_uc010nvf.2_Missense_Mutation_p.D268N	p.D268N	NM_001363	NP_001354	O60832	DKC1_HUMAN			9	1012	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		268					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.802G>A	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278318	0.95459	.	.	ENSG00000130826	ENST00000369550;ENST00000413910	D;D	0.88741	-2.42;-2.42	5.99	5.99	0.97316	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96537	0.8870	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.97583	1.0112	10	0.87932	D	0	-32.7255	17.788	0.88543	0.0:0.0:1.0:0.0	.	268;268	A8MUT5;O60832	.;DKC1_HUMAN	N	268;228	ENSP00000358563:D268N;ENSP00000400542:D228N	ENSP00000358563:D268N	D	+	1	0	DKC1	153650666	1.000000	0.71417	0.957000	0.39632	0.678000	0.39670	9.428000	0.97476	2.524000	0.85096	0.600000	0.82982	GAT		0.433	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		10	140	0	0	0	0	10	140				
PLEKHN1	84069	broad.mit.edu	37	1	901962	901964	+	In_Frame_Del	DEL	CTT	CTT	-	rs146294016		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:901962_901964delCTT	ENST00000379409.2	+	1	81_83	c.51_53delCTT	c.(49-54)tccttc>tcc	p.F18del	PLEKHN1_ENST00000379410.3_In_Frame_Del_p.F18del|PLEKHN1_ENST00000379407.3_In_Frame_Del_p.F18del			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	18										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCCGGGCCTCCTTCTCCAGAAAG	0.69																																						uc001ace.2		NA																	0					0						c.(49-54)TCCTTC>TCC		pleckstrin homology domain containing, family N			,	4,4240		1,2,2119					,	5.4	1.0			27	18,8214		8,2,4106	no	coding,coding	PLEKHN1	NM_032129.2,NM_001160184.1	,	9,4,6225	A1A1,A1R,RR		0.2187,0.0943,0.1763	,	,		22,12454				SO:0001651	inframe_deletion	84069							g.chr1:901962_901964delCTT	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.51_53delCTT	1.37:g.901962_901964delCTT	ENSP00000368719:p.Phe18del					PLEKHN1_uc001acd.2_In_Frame_Del_p.F18del|PLEKHN1_uc001acf.2_In_Frame_Del_p.F18del	p.F18del	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	1	86_88	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	18					Q494U2|Q5SV98|Q9H0M7	In_Frame_Del	DEL	ENST00000379409.2	37	c.51_53delCTT																																																																																					0.690	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		14	37	NA	NA	NA	NA	14	37	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27092740	27092740	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:27092740delG	ENST00000324856.7	+	9	3132	c.2761delG	c.(2761-2763)gggfs	p.G922fs	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G922fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G539fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	922					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGAATCAAGGGGGCATGAT	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2761-2763)GGGfs		AT rich interactive domain 1A isoform a							89.0	87.0	88.0					1																	27092740		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27092740delG	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2761delG	1.37:g.27092740delG	ENSP00000320485:p.Gly922fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.G921fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.G921fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.G538fs	p.G921fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	9	3134	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	921					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.2761delG	CCDS285.1																																																																																				0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		10	60	NA	NA	NA	NA	10	60	---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67507918	67507918	+	Splice_Site	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:67507918delC	ENST00000235345.5	-	8	815		c.e8+1		SLC35D1_ENST00000506472.2_Splice_Site	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1						carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						GAAAGTCCTACCTTTTGTGCA	0.383																																						uc001ddk.2		NA																	0					0						c.e8+1		solute carrier family 35 (UDP-glucuronic	Lorazepam(DB00186)						238.0	221.0	227.0					1																	67507918		2203	4300	6503	SO:0001630	splice_region_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67507918delC	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.729+1G>-	1.37:g.67507918delC						SLC35D1_uc010oph.1_Splice_Site_p.K164_splice	p.K243_splice	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN			8	1113	-								A8K185|B7Z3X2|Q52LU5|Q92548	Splice_Site	DEL	ENST00000235345.5	37	c.729_splice	CCDS636.1																																																																																				0.383	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139	Intron	45	192	NA	NA	NA	NA	45	192	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065|rs367921715|rs572995536	byFrequency	TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr1:154842200_154842202delGCT	ENST00000271915.4	-	1	554_556	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGATGCGGTGgctgctgctgctg	0.7																																						uc001ffp.2		NA																	2	Insertion - In frame(2)		prostate(2)	lung(1)	1						c.(238-243)CAGCCA>CCA		small conductance calcium-activated potassium																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842200_154842202delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241delAGC	1.37:g.154842209_154842211delGCT	ENSP00000271915:p.Gln80del					KCNN3_uc009wox.1_In_Frame_Del_p.Q80del	p.Q80del	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	553_555	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.239_241delAGC	CCDS30880.1																																																																																				0.700	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	6	NA	NA	NA	NA	3	6	---	---	---	---
OPN4	94233	broad.mit.edu	37	10	88416025	88416025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr10:88416025delG	ENST00000241891.5	+	2	425	c.258delG	c.(256-258)ctgfs	p.L86fs	OPN4_ENST00000372071.2_Frame_Shift_Del_p.L86fs	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	86					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGGGGATGCTGGGCAACCTGA	0.617																																						uc001kdq.2		NA																	0				ovary(1)	1						c.(256-258)CTGfs		opsin 4 isoform 1							161.0	147.0	152.0					10																	88416025		2203	4300	6503	SO:0001589	frameshift_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88416025delG	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.258delG	10.37:g.88416025delG	ENSP00000241891:p.Leu86fs					OPN4_uc001kdp.2_Frame_Shift_Del_p.L86fs|OPN4_uc010qmk.1_Frame_Shift_Del_p.L86fs	p.L86fs	NM_033282	NP_150598	Q9UHM6	OPN4_HUMAN			2	485	+			86			Helical; Name=1; (Potential).		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Frame_Shift_Del	DEL	ENST00000241891.5	37	c.258delG	CCDS7376.1																																																																																				0.617	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		19	96	NA	NA	NA	NA	19	96	---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75930347	75930348	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr13:75930347_75930348insC	ENST00000377636.3	-	4	1556_1557	c.1210_1211insG	c.(1210-1212)gagfs	p.E404fs	TBC1D4_ENST00000377625.2_Frame_Shift_Ins_p.E404fs|TBC1D4_ENST00000431480.2_Frame_Shift_Ins_p.E404fs|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	404	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTCTGGAGACTCCCGGCAGATA	0.431																																						uc001vjl.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1210-1212)GAGfs		TBC1 domain family, member 4																																				SO:0001589	frameshift_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75930347_75930348insC	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1211dupG	13.37:g.75930350_75930350dupC	ENSP00000366863:p.Glu404fs					TBC1D4_uc010aer.2_Frame_Shift_Ins_p.E404fs|TBC1D4_uc010aes.2_Frame_Shift_Ins_p.E404fs	p.E404fs	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	4	1557_1558	-		Prostate(6;0.014)|Breast(118;0.0982)	404			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Frame_Shift_Ins	INS	ENST00000377636.3	37	c.1210_1211insG	CCDS41901.1																																																																																				0.431	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		13	43	NA	NA	NA	NA	13	43	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9258619	9258619	+	Frame_Shift_Del	DEL	G	G	-	rs372656011		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr18:9258619delG	ENST00000262126.4	+	9	5594	c.5354delG	c.(5353-5355)cggfs	p.R1785fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.R1762fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.R1762fs|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1785						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CACCATCCACGGAAAAGGAAA	0.423																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5353-5355)CGGfs		ankyrin repeat domain 12 isoform 1							93.0	88.0	90.0					18																	9258619		2203	4300	6503	SO:0001589	frameshift_variant	23253					nucleus		g.chr18:9258619delG	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5354delG	18.37:g.9258619delG	ENSP00000262126:p.Arg1785fs					ANKRD12_uc002knw.2_Frame_Shift_Del_p.R1762fs|ANKRD12_uc002knx.2_Frame_Shift_Del_p.R1762fs|ANKRD12_uc010dkx.1_Frame_Shift_Del_p.R1492fs	p.R1785fs	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	5611	+			1785					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	ENST00000262126.4	37	c.5354delG	CCDS11843.1																																																																																				0.423	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		12	57	NA	NA	NA	NA	12	57	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14261849	14261850	+	Frame_Shift_Ins	INS	-	-	G	rs562152172		TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:14261849_14261850insG	ENST00000340736.6	-	24	4557_4558	c.4260_4261insC	c.(4258-4263)cccgaafs	p.E1421fs	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Frame_Shift_Ins_p.E1416fs|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1421					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGTAGATTTCGGGGGGGCCGG	0.733																																						uc010xnn.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(4258-4263)CCCGAAfs		latrophilin 1 isoform 1 precursor																																				SO:0001589	frameshift_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14261849_14261850insG	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.4261dupC	19.37:g.14261856_14261856dupG	ENSP00000340688:p.Glu1421fs					LPHN1_uc010xno.1_Frame_Shift_Ins_p.P1415fs|uc002myf.2_Intron	p.P1420fs	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			24	4556_4557	-			1420_1421			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Frame_Shift_Ins	INS	ENST00000340736.6	37	c.4260_4261insC	CCDS32928.1																																																																																				0.733	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		2	4	NA	NA	NA	NA	2	4	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54726424	54726424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr19:54726424delG	ENST00000391750.1	-	4	217	c.81delC	c.(79-81)cccfs	p.P27fs	LILRB3_ENST00000346401.6_Frame_Shift_Del_p.P27fs|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000469273.1_5'Flank|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000424807.1_Frame_Shift_Del_p.P27fs|LILRB3_ENST00000245620.9_Frame_Shift_Del_p.P27fs			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	27					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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)		GGGTGGGTTTGGGGAAGGGCC	0.632																																						uc002qef.1		NA																	0				skin(2)|ovary(1)	3						c.(79-81)CCCfs		leukocyte immunoglobulin-like receptor,							4.0	6.0	6.0					19																	54726424		1420	3350	4770	SO:0001589	frameshift_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54726424delG	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.81delC	19.37:g.54726424delG	ENSP00000375630:p.Pro27fs					LILRB3_uc002qee.1_Frame_Shift_Del_p.P27fs|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	p.P27fs	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	192	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		27			Extracellular (Potential).		C9J1P3|C9JIP1|O15471|Q86U49	Frame_Shift_Del	DEL	ENST00000391750.1	37	c.81delC	CCDS33105.1																																																																																				0.632	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		6	7	NA	NA	NA	NA	6	7	---	---	---	---
ST6GAL2	84620	broad.mit.edu	37	2	107450599	107450599	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:107450599delG	ENST00000409382.3	-	3	1557	c.947delC	c.(946-948)tctfs	p.S316fs	ST6GAL2_ENST00000409087.3_Frame_Shift_Del_p.S316fs|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Frame_Shift_Del_p.S316fs	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	316					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCATCATGAGAATCTAAGGG	0.363																																						uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(946-948)TCTfs		ST6 beta-galactosamide							137.0	134.0	135.0					2																	107450599		2203	4300	6503	SO:0001589	frameshift_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107450599delG	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.947delC	2.37:g.107450599delG	ENSP00000386942:p.Ser316fs					ST6GAL2_uc002tdr.2_Frame_Shift_Del_p.S316fs|ST6GAL2_uc002tds.3_Frame_Shift_Del_p.S316fs	p.S316fs	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			3	1066	-			316			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Frame_Shift_Del	DEL	ENST00000409382.3	37	c.947delC	CCDS2073.1																																																																																				0.363	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		7	94	NA	NA	NA	NA	7	94	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121743959	121743959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr2:121743959delC	ENST00000452319.1	+	13	2122	c.2062delC	c.(2062-2064)cccfs	p.P688fs	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Frame_Shift_Del_p.P360fs|GLI2_ENST00000361492.4_Frame_Shift_Del_p.P688fs					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGGGACGGGGCCCGGGAGCCT	0.711																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(2062-2064)CCCfs		GLI-Kruppel family member GLI2							35.0	43.0	40.0					2																	121743959		2202	4299	6501	SO:0001589	frameshift_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121743959delC		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2062delC	2.37:g.121743959delC	ENSP00000390436:p.Pro688fs					GLI2_uc002tmq.1_Frame_Shift_Del_p.P360fs|GLI2_uc002tmr.1_Frame_Shift_Del_p.P343fs|GLI2_uc002tmt.3_Frame_Shift_Del_p.P360fs|GLI2_uc002tmu.3_Frame_Shift_Del_p.P343fs|GLI2_uc002tmw.1_Frame_Shift_Del_p.P671fs	p.P688fs	NM_005270	NP_005261	P10070	GLI2_HUMAN			12	2092	+	Renal(3;0.0496)	Prostate(154;0.0623)	688						Frame_Shift_Del	DEL	ENST00000452319.1	37	c.2062delC	CCDS33283.1																																																																																				0.711	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		12	30	NA	NA	NA	NA	12	30	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31023983	31023983	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr20:31023983delA	ENST00000375687.4	+	13	3892	c.3468delA	c.(3466-3468)ggafs	p.G1156fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G1151fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1156					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ATGGTCTTGGAAAAAACAGTG	0.507			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3466-3468)GGAfs		additional sex combs like 1 isoform 1							73.0	76.0	75.0					20																	31023983		2203	4300	6503	SO:0001589	frameshift_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023983delA	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3468delA	20.37:g.31023983delA	ENSP00000364839:p.Gly1156fs					ASXL1_uc010geb.2_Frame_Shift_Del_p.G1047fs	p.G1156fs	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	3894	+			1156					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	ENST00000375687.4	37	c.3468delA	CCDS13201.1																																																																																				0.507	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		20	78	NA	NA	NA	NA	20	78	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173999063	173999063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr3:173999063delC	ENST00000457714.1	+	7	2871	c.2442delC	c.(2440-2442)cacfs	p.H814fs	NLGN1_ENST00000361589.4_Frame_Shift_Del_p.H814fs|NLGN1_ENST00000545397.1_Frame_Shift_Del_p.H814fs|NLGN1_ENST00000401917.3_Frame_Shift_Del_p.H854fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	831					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCATCCCCACCCCCATTCAC	0.418																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2440-2442)CACfs		neuroligin 1							60.0	58.0	59.0					3																	173999063		2203	4300	6503	SO:0001589	frameshift_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173999063delC	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2442delC	3.37:g.173999063delC	ENSP00000392500:p.His814fs					NLGN1_uc003fip.1_Frame_Shift_Del_p.H814fs	p.H814fs	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2865	+	Ovarian(172;0.0025)		831			Cytoplasmic (Potential).		Q9UPT2	Frame_Shift_Del	DEL	ENST00000457714.1	37	c.2442delC	CCDS3222.1																																																																																				0.418	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		16	33	NA	NA	NA	NA	16	33	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84603894	84603894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:84603894delC	ENST00000344803.2	+	1	208	c.161delC	c.(160-162)accfs	p.T54fs		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	54					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCGTCACCCACCGAAAAAAAT	0.428																																						uc004amn.2		NA																	0					0						c.(160-162)ACCfs		hypothetical protein LOC389763							198.0	166.0	176.0					9																	84603894		1883	4105	5988	SO:0001589	frameshift_variant	389763					integral to membrane		g.chr9:84603894delC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.161delC	9.37:g.84603894delC	ENSP00000341988:p.Thr54fs						p.T54fs	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			1	208	+			54						Frame_Shift_Del	DEL	ENST00000344803.2	37	c.161delC	CCDS47986.1																																																																																				0.428	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		24	51	NA	NA	NA	NA	24	51	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98270530	98270530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chr9:98270530delC	ENST00000331920.6	-	1	413	c.114delG	c.(112-114)gggfs	p.G38fs	PTCH1_ENST00000418258.1_5'Flank|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000429896.2_5'Flank|PTCH1_ENST00000421141.1_5'Flank|PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000437951.1_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	38					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACGGCGCAGCCCCCCCGTCC	0.736																																						uc004avk.3		NA																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(112-114)GGGfs		patched isoform L							13.0	16.0	15.0					9																	98270530		2189	4288	6477	SO:0001589	frameshift_variant	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98270530delC	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.114delG	9.37:g.98270530delC	ENSP00000332353:p.Gly38fs					PTCH1_uc010mro.2_5'Flank|PTCH1_uc010mrp.2_5'Flank|PTCH1_uc010mrq.2_5'Flank|PTCH1_uc004avl.3_5'Flank|PTCH1_uc010mrr.2_Intron|PTCH1_uc004avm.3_Intron|PTCH1_uc010mrt.1_5'Flank|PTCH1_uc010mru.1_5'Flank|PTCH1_uc004avo.2_Intron|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	p.G38fs	NM_000264	NP_000255	Q13635	PTC1_HUMAN			1	302	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	38			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	ENST00000331920.6	37	c.114delG	CCDS6714.1																																																																																				0.736	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		8	17	NA	NA	NA	NA	8	17	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107868952	107868952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:107868952delG	ENST00000361603.2	+	35	3278	c.3034delG	c.(3034-3036)ggtfs	p.G1012fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.G1012fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1012	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTAACCCTGGTCTCCCTGG	0.413									Alport syndrome with Diffuse Leiomyomatosis																													uc004enz.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(3034-3036)GGTfs		type IV collagen alpha 5 isoform 2 precursor							65.0	58.0	60.0					X																	107868952		2203	4300	6503	SO:0001589	frameshift_variant	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107868952delG	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3034delG	X.37:g.107868952delG	ENSP00000354505:p.Gly1012fs					COL4A5_uc011mso.1_Frame_Shift_Del_p.G1012fs|COL4A5_uc004eob.1_Frame_Shift_Del_p.G620fs	p.G1012fs	NM_033380	NP_203699	P29400	CO4A5_HUMAN			35	3236	+			1012			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	ENST00000361603.2	37	c.3034delG	CCDS14543.1																																																																																				0.413	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			7	58	NA	NA	NA	NA	7	58	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185739	127185739	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:127185739delG	ENST00000371124.3	-	1	643	c.447delC	c.(445-447)gccfs	p.A149fs		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	149						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGTGACACAGGCAGAGGCAT	0.527																																						uc004eum.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(445-447)GCCfs		actin-related protein T1							160.0	148.0	152.0					X																	127185739		2203	4300	6503	SO:0001589	frameshift_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185739delG	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.447delC	X.37:g.127185739delG	ENSP00000360165:p.Ala149fs						p.A149fs	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	644	-			149					Q6X7C1|Q96L10	Frame_Shift_Del	DEL	ENST00000371124.3	37	c.447delC	CCDS14611.1																																																																																				0.527	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		10	203	NA	NA	NA	NA	10	203	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132162111	132162111	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7388-01A-11D-2012-08	TCGA-CR-7388-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	3eddb2ad-6c75-4ae7-9d27-8ec0e7b4aa55	1092f9db-c4fe-4d73-90ec-c522795f24e3	g.chrX:132162111delT	ENST00000511190.1	-	6	607	c.138delA	c.(136-138)aaafs	p.K46fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.K46fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.K46fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	46					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAGTGCTATATTTTCCACTTT	0.333																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NA																	0				lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(136-138)AAAfs		ubiquitin-specific protease 26							69.0	68.0	69.0					X																	132162111		2202	4296	6498	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132162111delT	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.138delA	X.37:g.132162111delT	ENSP00000423390:p.Lys46fs					USP26_uc011mvf.1_Frame_Shift_Del_p.K46fs	p.K46fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	608	-	Acute lymphoblastic leukemia(192;0.000127)		46					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.138delA	CCDS14635.1																																																																																				0.333	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		21	58	NA	NA	NA	NA	21	58	---	---	---	---
