#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	866467	866467	+	Silent	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:866467C>T	ENST00000342066.3	+	4	386	c.303C>T	c.(301-303)tgC>tgT	p.C101C	AL645608.1_ENST00000598827.1_5'Flank	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	101					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)		AGGCGTCCTGCAGGTAGGAGC	0.637																																						uc001abw.1		NA																	0					0						c.(301-303)TGC>TGT		sterile alpha motif domain containing 11							90.0	78.0	82.0					1																	866467		2203	4300	6503	SO:0001819	synonymous_variant	148398					nucleus		g.chr1:866467C>T	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.303C>T	1.37:g.866467C>T						SAMD11_uc001abv.1_Silent_p.C101C	p.C101C	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)	4	383	+	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)	101					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Silent	SNP	ENST00000342066.3	37	c.303C>T	CCDS2.2	.	.	.	.	.	.	.	.	.	.	c	7.565	0.665573	0.14710	.	.	ENSG00000187634	ENST00000341065	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	T	0.71213	0.3313	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71547	-0.4560	4	.	.	.	.	16.1674	0.81777	0.0:1.0:0.0:0.0	.	.	.	.	V	25	.	.	A	+	2	0	SAMD11	856330	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	3.066000	0.50002	2.150000	0.67090	0.556000	0.70494	GCA		0.637	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		21	31	0	0	0	0	21	31				
MIIP	60672	broad.mit.edu	37	1	12081875	12081875	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:12081875C>T	ENST00000235332.4	+	2	261	c.92C>T	c.(91-93)tCa>tTa	p.S31L	MIIP_ENST00000436478.2_Missense_Mutation_p.S31L|Y_RNA_ENST00000365591.1_RNA	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	31										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GTGCGGCGGTCAGTGGCCAGG	0.662																																						uc001ato.1		NA																	0				ovary(1)	1						c.(91-93)TCA>TTA		invasion inhibitory protein 45							28.0	28.0	28.0					1																	12081875		2203	4299	6502	SO:0001583	missense	60672							g.chr1:12081875C>T	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.92C>T	1.37:g.12081875C>T	ENSP00000235332:p.Ser31Leu						p.S31L	NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN			2	272	+			31					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.92C>T	CCDS143.1	.	.	.	.	.	.	.	.	.	.	C	7.788	0.710924	0.15239	.	.	ENSG00000116691	ENST00000235332;ENST00000436478	T;T	0.18810	2.19;2.19	4.68	3.76	0.43208	.	0.408281	0.21306	N	0.076724	T	0.23451	0.0567	M	0.73962	2.25	0.09310	N	1	B	0.28552	0.215	B	0.29663	0.105	T	0.13926	-1.0491	10	0.26408	T	0.33	-3.2282	8.9182	0.35594	0.0:0.897:0.0:0.103	.	31	Q5JXC2	MIIP_HUMAN	L	31	ENSP00000235332:S31L;ENSP00000392417:S31L	ENSP00000235332:S31L	S	+	2	0	MIIP	12004462	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	0.440000	0.21592	1.151000	0.42436	0.591000	0.81541	TCA		0.662	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		5	27	0	0	0	0	5	27				
USP48	84196	broad.mit.edu	37	1	22030033	22030033	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:22030033T>A	ENST00000308271.9	-	21	3242	c.2594A>T	c.(2593-2595)tAt>tTt	p.Y865F	USP48_ENST00000529637.1_Missense_Mutation_p.Y877F|USP48_ENST00000374732.3_Missense_Mutation_p.Y403F|USP48_ENST00000400301.1_Missense_Mutation_p.Y865F	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	865					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTTATGGACATAGATGGTGGC	0.428																																						uc001bfb.2		NA																	0				ovary(1)|lung(1)	2						c.(2593-2595)TAT>TTT		ubiquitin specific protease 48 isoform a							194.0	184.0	187.0					1																	22030033		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22030033T>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2594A>T	1.37:g.22030033T>A	ENSP00000309262:p.Tyr865Phe					USP48_uc001bfa.2_Missense_Mutation_p.Y403F|USP48_uc010odq.1_Missense_Mutation_p.Y877F|USP48_uc009vqc.2_Missense_Mutation_p.Y799F|USP48_uc001bfc.2_Missense_Mutation_p.Y865F|USP48_uc001bfd.1_Intron	p.Y865F	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	21	2832	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	865					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.2594A>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603618	0.87157	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.08720	3.06;3.3;3.13	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;1.0;0.999;0.998	D;P;D;D;D	0.83275	0.978;0.773;0.996;0.991;0.994	T	0.01205	-1.1419	10	0.41790	T	0.15	.	15.544	0.76081	0.0:0.0:0.0:1.0	.	877;865;865;865;403	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	F	865;865;403;877	ENSP00000383157:Y865F;ENSP00000309262:Y865F;ENSP00000431949:Y877F	ENSP00000309262:Y865F	Y	-	2	0	USP48	21902620	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.166000	0.77553	2.324000	0.78689	0.533000	0.62120	TAT		0.428	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		65	126	0	0	0	0	65	126				
USP1	7398	broad.mit.edu	37	1	62907261	62907261	+	Silent	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:62907261T>C	ENST00000339950.4	+	3	1088	c.273T>C	c.(271-273)taT>taC	p.Y91Y	USP1_ENST00000371146.1_Silent_p.Y91Y	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	91	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		ATACTTGCTATCTTAATAGTA	0.343																																					Ovarian(122;1846 2315 3982 19504)	uc001daj.1		NA																	0				ovary(1)	1						c.(271-273)TAT>TAC		ubiquitin specific protease 1							107.0	110.0	109.0					1																	62907261		2203	4300	6503	SO:0001819	synonymous_variant	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62907261T>C		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.273T>C	1.37:g.62907261T>C						USP1_uc001dak.1_Silent_p.Y91Y|USP1_uc001dal.1_Silent_p.Y91Y	p.Y91Y	NM_001017415	NP_001017415	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	3	601	+		all_neural(321;0.0281)	91					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Silent	SNP	ENST00000339950.4	37	c.273T>C	CCDS621.1																																																																																				0.343	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		31	36	0	0	0	0	31	36				
RWDD3	25950	broad.mit.edu	37	1	95710106	95710106	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:95710106C>G	ENST00000370202.4	+	2	501	c.425C>G	c.(424-426)aCt>aGt	p.T142S	RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000429514.2_Missense_Mutation_p.T127S|RWDD3_ENST00000263893.6_Missense_Mutation_p.T142S|RP11-57H12.6_ENST00000604534.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	142					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TTGTGGATAACTCTTTTGCAT	0.418																																						uc009wdu.2		NA																	0				ovary(1)	1						c.(424-426)ACT>AGT		RWD domain containing 3 isoform a							130.0	124.0	126.0					1																	95710106		1947	4121	6068	SO:0001583	missense	25950					cytoplasm|nucleus	protein binding	g.chr1:95710106C>G	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.425C>G	1.37:g.95710106C>G	ENSP00000359221:p.Thr142Ser					RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.T127S|RWDD3_uc009wdt.2_Missense_Mutation_p.T142S|RWDD3_uc001drf.3_Missense_Mutation_p.T142S|RWDD3_uc001drh.3_Missense_Mutation_p.T127S|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.T142S	p.T142S	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	2	501	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	142					A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	c.425C>G	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100579	0.56183	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.31247	1.54;1.5;1.52	5.38	4.45	0.53987	.	0.363145	0.32503	N	0.006020	T	0.21631	0.0521	M	0.64997	1.995	0.22771	N	0.998759	P;P;P;D;D	0.56035	0.932;0.704;0.932;0.974;0.96	P;B;P;P;P	0.53861	0.476;0.084;0.476;0.736;0.675	T	0.13150	-1.0520	10	0.19147	T	0.46	-7.1868	5.3642	0.16105	0.0:0.7243:0.0:0.2757	.	127;142;142;127;142	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	S	142;127;142	ENSP00000359221:T142S;ENSP00000397398:T127S;ENSP00000263893:T142S	ENSP00000263893:T142S	T	+	2	0	RWDD3	95482694	0.875000	0.30112	0.968000	0.41197	0.930000	0.56654	2.144000	0.42197	2.685000	0.91497	0.650000	0.86243	ACT		0.418	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		12	59	0	0	0	0	12	59				
COL11A1	1301	broad.mit.edu	37	1	103345461	103345461	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:103345461T>A	ENST00000370096.3	-	66	5364	c.5052A>T	c.(5050-5052)ttA>ttT	p.L1684F	COL11A1_ENST00000512756.1_Missense_Mutation_p.L1568F|COL11A1_ENST00000358392.2_Missense_Mutation_p.L1696F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1645F	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1684	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTCAACATCTAAGTATGAAA	0.378																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(5050-5052)TTA>TTT		alpha 1 type XI collagen isoform A							66.0	61.0	62.0					1																	103345461		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103345461T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5052A>T	1.37:g.103345461T>A	ENSP00000359114:p.Leu1684Phe					COL11A1_uc001duk.2_Missense_Mutation_p.L880F|COL11A1_uc001dum.2_Missense_Mutation_p.L1696F|COL11A1_uc001dun.2_Missense_Mutation_p.L1645F|COL11A1_uc009weh.2_Missense_Mutation_p.L1568F	p.L1684F	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	66	5370	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1684			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.5052A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.327924	0.60743	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.51	-0.275	0.12906	Fibrillar collagen, C-terminal (3);	0.410761	0.23660	N	0.045832	T	0.35682	0.0940	N	0.08118	0	0.38710	D	0.953201	B;B;P;P;B	0.38335	0.153;0.126;0.573;0.627;0.126	B;B;B;B;B	0.39660	0.23;0.147;0.3;0.306;0.176	T	0.30031	-0.9992	10	0.87932	D	0	.	6.7736	0.23607	0.1675:0.5863:0.0:0.2462	.	1568;1645;1696;1684;904	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	F	1684;1696;1645;904;1568	ENSP00000359114:L1684F;ENSP00000351163:L1696F;ENSP00000302551:L1645F;ENSP00000426533:L1568F	ENSP00000302551:L1645F	L	-	3	2	COL11A1	103118049	0.996000	0.38824	0.997000	0.53966	0.973000	0.67179	0.417000	0.21214	0.068000	0.16574	0.477000	0.44152	TTA		0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	23	0	0	0	0	11	23				
PTGFRN	5738	broad.mit.edu	37	1	117484584	117484584	+	Silent	SNP	C	C	T	rs149801733		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:117484584C>T	ENST00000393203.2	+	2	444	c.297C>T	c.(295-297)aaC>aaT	p.N99N		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	99	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GGACTGCCAACGACGCCGTGG	0.587																																						uc001egv.1		NA																	0				liver(1)	1						c.(295-297)AAC>AAT		prostaglandin F2 receptor negative regulator							87.0	81.0	83.0					1																	117484584		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117484584C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.297C>T	1.37:g.117484584C>T							p.N99N	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	2	434	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	99			Extracellular (Potential).|Ig-like C2-type 1.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.297C>T	CCDS890.1																																																																																				0.587	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		5	27	0	0	0	0	5	27				
Unknown	0	broad.mit.edu	37	1	144619881	144619881	+	IGR	SNP	A	A	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:144619881A>C								RP11-640M9.2 (13990 upstream) : NBPF9 (191862 downstream)																							CTGGCTCATCAGGGAGGTGCA	0.522																																						uc009wig.1		NA																	0					0						c.e8-2		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144619881A>C																													1.37:g.144619881A>C						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Splice_Site_p.R189_splice|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Splice_Site_p.R120_splice|NBPF9_uc001eli.3_Splice_Site|NBPF9_uc010oyf.1_Splice_Site_p.R120_splice|NBPF9_uc010oyg.1_Splice_Site_p.R154_splice|NBPF9_uc009wii.1_Splice_Site	p.R189_splice	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			8	643	+									Splice_Site	SNP		37	c.567_splice																																																																																				0	0.522									19	801	0	0	0	0	19	801				
BCL9	607	broad.mit.edu	37	1	147096739	147096739	+	Silent	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:147096739C>T	ENST00000234739.3	+	10	5000	c.4260C>T	c.(4258-4260)aaC>aaT	p.N1420N		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1420					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GACCTGGCAACCCAGGAAACA	0.542			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(4258-4260)AAC>AAT		B-cell CLL/lymphoma 9							40.0	41.0	41.0					1																	147096739		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096739C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.4260C>T	1.37:g.147096739C>T						BCL9_uc010ozr.1_Silent_p.N1334N	p.N1420N	NM_004326	NP_004317	O00512	BCL9_HUMAN			10	5000	+	all_hematologic(923;0.115)		1420					Q5T489	Silent	SNP	ENST00000234739.3	37	c.4260C>T	CCDS30833.1																																																																																				0.542	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		18	15	0	0	0	0	18	15				
DCAF6	55827	broad.mit.edu	37	1	167973999	167973999	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:167973999A>T	ENST00000312263.6	+	10	1550	c.1346A>T	c.(1345-1347)gAg>gTg	p.E449V	DCAF6_ENST00000367840.3_Missense_Mutation_p.E449V|DCAF6_ENST00000367843.3_Missense_Mutation_p.E449V|DCAF6_ENST00000432587.2_Missense_Mutation_p.E418V	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	449					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CAGTCTGTTGAGGCATCTGGA	0.423																																						uc001gew.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1345-1347)GAG>GTG		IQ motif and WD repeats 1 isoform b							94.0	90.0	91.0					1																	167973999		2203	4299	6502	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167973999A>T	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1346A>T	1.37:g.167973999A>T	ENSP00000311949:p.Glu449Val					DCAF6_uc001gev.2_Missense_Mutation_p.E449V|DCAF6_uc001gex.2_Missense_Mutation_p.E449V|DCAF6_uc010plk.1_Missense_Mutation_p.E418V|DCAF6_uc001gey.2_Missense_Mutation_p.E302V	p.E449V	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			10	1588	+			449					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.1346A>T	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763501	0.49574	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.82803	-1.65;0.1;-1.54;-1.64	5.17	5.17	0.71159	WD40 repeat-like-containing domain (1);	0.262242	0.36932	N	0.002337	T	0.74168	0.3681	L	0.27053	0.805	0.31368	N	0.680531	P;D;B;P	0.61080	0.952;0.989;0.013;0.935	P;P;B;P	0.58266	0.601;0.836;0.003;0.572	T	0.76870	-0.2799	9	0.37606	T	0.19	.	8.7787	0.34778	0.907:0.0:0.093:0.0	.	418;449;449;449	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	V	449;418;449;449	ENSP00000356817:E449V;ENSP00000396238:E418V;ENSP00000311949:E449V;ENSP00000356814:E449V	ENSP00000311949:E449V	E	+	2	0	DCAF6	166240623	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.298000	0.59067	2.064000	0.61679	0.454000	0.30748	GAG		0.423	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		36	14	0	0	0	0	36	14				
ZBTB37	84614	broad.mit.edu	37	1	173839375	173839375	+	Silent	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:173839375T>C	ENST00000367701.5	+	2	203	c.12T>C	c.(10-12)ggT>ggC	p.G4G	ZBTB37_ENST00000367704.1_Silent_p.G4G|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000432989.1_Silent_p.G4G|ZBTB37_ENST00000367702.1_Silent_p.G4G|ZBTB37_ENST00000427304.1_Silent_p.G4G			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TGGAGAAAGGTGGGAACATAC	0.443																																						uc009wwp.1		NA																	0					0						c.(10-12)GGT>GGC		zinc finger and BTB domain containing 37 isoform							53.0	49.0	51.0					1																	173839375		2203	4300	6503	SO:0001819	synonymous_variant	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839375T>C	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.12T>C	1.37:g.173839375T>C						GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Silent_p.G4G|ZBTB37_uc001gjq.3_Silent_p.G4G|ZBTB37_uc001gjr.2_Silent_p.G4G	p.G4G	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			3	288	+			4					Q5TC80|Q96M87|Q9BQ88	Silent	SNP	ENST00000367701.5	37	c.12T>C	CCDS44278.1																																																																																				0.443	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		16	22	0	0	0	0	16	22				
EPRS	2058	broad.mit.edu	37	1	220206926	220206926	+	Silent	SNP	G	G	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:220206926G>C	ENST00000366923.3	-	4	575	c.306C>G	c.(304-306)ctC>ctG	p.L102L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	102					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GGCAATGATTGAGTTCATTAA	0.343																																						uc001hly.1		NA																	0				ovary(1)|skin(1)	2						c.(304-306)CTC>CTG		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						98.0	105.0	103.0					1																	220206926		2203	4300	6503	SO:0001819	synonymous_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220206926G>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.306C>G	1.37:g.220206926G>C						EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Silent_p.L102L|EPRS_uc009xdt.1_5'UTR	p.L102L	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	4	576	-			102					A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	c.306C>G	CCDS31027.1																																																																																				0.343	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		20	77	0	0	0	0	20	77				
DISP1	84976	broad.mit.edu	37	1	223179194	223179194	+	Silent	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:223179194A>G	ENST00000284476.6	+	8	4619	c.4455A>G	c.(4453-4455)agA>agG	p.R1485R		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1485					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)		GTTGTGGCAGAATTGTGAGAG	0.408																																						uc001hnu.1		NA																	0					0						c.(4453-4455)AGA>AGG		dispatched A							67.0	64.0	65.0					1																	223179194		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:223179194A>G	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.4455A>G	1.37:g.223179194A>G							p.R1485R	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4602	+			1485					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.4455A>G	CCDS1536.1																																																																																				0.408	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		12	61	0	0	0	0	12	61				
LYST	1130	broad.mit.edu	37	1	235860530	235860530	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:235860530C>T	ENST00000389794.3	-	46	10591	c.10417G>A	c.(10417-10419)Gtg>Atg	p.V3473M	LYST_ENST00000389793.2_Missense_Mutation_p.V3473M|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3473					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGGGAACCCACGTATTCCCCC	0.468																																						uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(10417-10419)GTG>ATG		lysosomal trafficking regulator							59.0	64.0	62.0					1																	235860530		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235860530C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10417G>A	1.37:g.235860530C>T	ENSP00000374444:p.Val3473Met					LYST_uc001hxi.2_Missense_Mutation_p.V697M	p.V3473M	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		46	10592	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3473					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10417G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853521	0.91355	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.66280	-0.2;-0.2	5.88	5.88	0.94601	.	0.103287	0.64402	D	0.000003	T	0.80003	0.4544	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80320	-0.1432	10	0.72032	D	0.01	.	20.2166	0.98299	0.0:1.0:0.0:0.0	.	3473	Q99698	LYST_HUMAN	M	3473	ENSP00000374444:V3473M;ENSP00000374443:V3473M	ENSP00000374443:V3473M	V	-	1	0	LYST	233927153	1.000000	0.71417	0.891000	0.34965	0.910000	0.53928	7.747000	0.85070	2.781000	0.95711	0.591000	0.81541	GTG		0.468	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			50	13	0	0	0	0	50	13				
GTPBP4	23560	broad.mit.edu	37	10	1038576	1038576	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:1038576C>G	ENST00000360803.4	+	2	278	c.196C>G	c.(196-198)Cta>Gta	p.L66V	GTPBP4_ENST00000545048.1_Missense_Mutation_p.L19V|GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	66					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTCACAAATTCTAACAGATTT	0.348																																						uc001ift.2		NA																	0				ovary(1)|skin(1)	2						c.(196-198)CTA>GTA		G protein-binding protein CRFG							45.0	43.0	44.0					10																	1038576		2203	4299	6502	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1038576C>G	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.196C>G	10.37:g.1038576C>G	ENSP00000354040:p.Leu66Val					GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_5'UTR|GTPBP4_uc010qae.1_Missense_Mutation_p.L19V	p.L66V	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	2	267	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	66					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.196C>G	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234637	0.39498	.	.	ENSG00000107937	ENST00000360803;ENST00000360059;ENST00000545048	T;T;T	0.15372	2.43;2.43;2.43	5.72	1.41	0.22369	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	L	0.42581	1.335	0.80722	D	1	B	0.24043	0.096	B	0.32211	0.142	T	0.16837	-1.0389	10	0.19147	T	0.46	-15.2225	2.4844	0.04595	0.1224:0.4049:0.1214:0.3513	.	66	Q9BZE4	NOG1_HUMAN	V	66;19;19	ENSP00000354040:L66V;ENSP00000353168:L19V;ENSP00000445473:L19V	ENSP00000353168:L19V	L	+	1	2	GTPBP4	1028576	0.999000	0.42202	0.443000	0.26883	0.972000	0.66771	0.729000	0.26028	0.095000	0.17434	0.655000	0.94253	CTA		0.348	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		15	24	0	0	0	0	15	24				
PRKG1	5592	broad.mit.edu	37	10	54040637	54040637	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:54040637A>G	ENST00000401604.2	+	13	1641	c.1447A>G	c.(1447-1449)Agg>Ggg	p.R483G	PRKG1_ENST00000373980.4_Missense_Mutation_p.R498G|PRKG1_ENST00000373985.1_Missense_Mutation_p.R471G|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R201G|PRKG1-AS1_ENST00000452247.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	483	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AATCATTTACAGGGACCTCAA	0.423																																						uc001jjm.2		NA																	0				lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(1447-1449)AGG>GGG		protein kinase, cGMP-dependent, type I isoform							129.0	115.0	120.0					10																	54040637		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54040637A>G		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1447A>G	10.37:g.54040637A>G	ENSP00000384200:p.Arg483Gly					PRKG1_uc001jjo.2_Missense_Mutation_p.R498G|PRKG1_uc009xow.1_Missense_Mutation_p.R201G|uc001jjq.1_Intron	p.R483G	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	13	1641	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	483			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1447A>G	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	A	18.90	3.721698	0.68959	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.18960	2.18;2.18;2.18	5.47	3.1	0.35709	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	0.52500	0.1738	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.91635	0.965;0.997;0.999	T	0.59899	-0.7367	10	0.87932	D	0	-17.533	12.079	0.53659	0.7034:0.2965:0.0:0.0	.	201;498;483	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	G	483;471;498;201;95	ENSP00000384200:R483G;ENSP00000363097:R471G;ENSP00000363092:R498G	ENSP00000327642:R201G	R	+	1	2	PRKG1	53710643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.776000	0.55356	0.366000	0.24427	0.482000	0.46254	AGG		0.423	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	82	0	0	0	0	3	82				
SGPL1	8879	broad.mit.edu	37	10	72610941	72610941	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:72610941A>T	ENST00000373202.3	+	4	435	c.235A>T	c.(235-237)Agg>Tgg	p.R79W		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	79					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TAAGCTCACCAGGAAGATGCC	0.328																																					Colon(151;1054 2458 6676 40971)	uc001jrm.2		NA																	0					0						c.(235-237)AGG>TGG		sphingosine-1-phosphate lyase 1	Pyridoxal Phosphate(DB00114)						186.0	175.0	179.0					10																	72610941		2203	4300	6503	SO:0001583	missense	8879				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	g.chr10:72610941A>T	AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.235A>T	10.37:g.72610941A>T	ENSP00000362298:p.Arg79Trp						p.R79W	NM_003901	NP_003892	O95470	SGPL1_HUMAN			4	457	+			79			Cytoplasmic (Potential).		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	c.235A>T	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208739	0.39003	.	.	ENSG00000166224	ENST00000373202;ENST00000299297	T;T	0.48522	0.81;0.99	5.41	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.77486	2.375	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.66662	-0.5867	10	0.59425	D	0.04	-29.9047	11.2986	0.49292	0.5038:0.4962:0.0:0.0	.	79	O95470	SGPL1_HUMAN	W	79;62	ENSP00000362298:R79W;ENSP00000299297:R62W	ENSP00000299297:R62W	R	+	1	2	SGPL1	72280947	0.962000	0.33011	0.516000	0.27786	0.012000	0.07955	2.277000	0.43417	0.425000	0.26087	0.533000	0.62120	AGG		0.328	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901		28	45	0	0	0	0	28	45				
SMC3	9126	broad.mit.edu	37	10	112363045	112363045	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:112363045T>A	ENST00000361804.4	+	28	3705	c.3579T>A	c.(3577-3579)aaT>aaA	p.N1193K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1193					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTTCAGAAATAAGGTAATTT	0.279																																						uc001kze.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3577-3579)AAT>AAA		structural maintenance of chromosomes 3							52.0	54.0	53.0					10																	112363045		2203	4296	6499	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112363045T>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3579T>A	10.37:g.112363045T>A	ENSP00000354720:p.Asn1193Lys						p.N1193K	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	28	3705	+		Breast(234;0.0848)|Lung NSC(174;0.238)	1193					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.3579T>A	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755407	0.49362	.	.	ENSG00000108055	ENST00000361804	T	0.67171	-0.25	5.41	-2.85	0.05734	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78326	-0.2247	10	0.52906	T	0.07	.	14.1108	0.65120	0.0:0.5545:0.0:0.4455	.	1193	Q9UQE7	SMC3_HUMAN	K	1193	ENSP00000354720:N1193K	ENSP00000354720:N1193K	N	+	3	2	SMC3	112353035	0.940000	0.31905	0.971000	0.41717	0.841000	0.47740	0.059000	0.14322	-0.712000	0.04988	-1.069000	0.02264	AAT		0.279	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		10	18	0	0	0	0	10	18				
OR10Q1	219960	broad.mit.edu	37	11	57995517	57995517	+	Silent	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:57995517G>A	ENST00000316770.2	-	1	873	c.831C>T	c.(829-831)agC>agT	p.S277S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	277						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)				ACGCGATTTGGCTGTCCTCAT	0.557																																						uc010rkd.1		NA																	0				ovary(2)	2						c.(829-831)AGC>AGT		olfactory receptor, family 10, subfamily Q,							119.0	106.0	110.0					11																	57995517		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995517G>A	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.831C>T	11.37:g.57995517G>A							p.S277S	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	831	-		Breast(21;0.0589)	277			Helical; Name=7; (Potential).		Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.831C>T	CCDS31547.1																																																																																				0.557	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		28	60	0	0	0	0	28	60				
RSF1	51773	broad.mit.edu	37	11	77411780	77411780	+	Missense_Mutation	SNP	A	A	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:77411780A>C	ENST00000308488.6	-	6	2796	c.2494T>G	c.(2494-2496)Tct>Gct	p.S832A	RSF1_ENST00000360355.2_Missense_Mutation_p.S801A|RSF1_ENST00000480887.1_Missense_Mutation_p.S580A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	832					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTTACTTTAGAATTTGTATCT	0.284																																						uc001oyn.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2494-2496)TCT>GCT		remodeling and spacing factor 1							69.0	71.0	70.0					11																	77411780		2195	4290	6485	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77411780A>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2494T>G	11.37:g.77411780A>C	ENSP00000311513:p.Ser832Ala					RSF1_uc001oym.2_Missense_Mutation_p.S580A	p.S832A	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2614	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		832					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.2494T>G	CCDS8253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.685|8.685	0.906039|0.906039	0.17760|0.17760	.|.	.|.	ENSG00000048649|ENSG00000048649	ENST00000532556|ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324	.|D;D;D;D	.|0.85702	.|-2.0;-1.99;-1.99;-2.02	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.280602	.|0.25919	.|N	.|0.027454	T|T	0.75191|0.75191	0.3816|0.3816	N|N	0.14661|0.14661	0.345|0.345	0.29103|0.29103	N|N	0.88138|0.88138	.|P	.|0.45902	.|0.868	.|P	.|0.46110	.|0.504	T|T	0.70281|0.70281	-0.4915|-0.4915	5|10	.|0.33141	.|T	.|0.24	-1.0148|-1.0148	8.8704|8.8704	0.35311|0.35311	0.9158:0.0:0.0842:0.0|0.9158:0.0:0.0842:0.0	.|.	.|832	.|Q96T23	.|RSF1_HUMAN	M|A	88|832;580;801;633	.|ENSP00000311513:S832A;ENSP00000434509:S580A;ENSP00000353511:S801A;ENSP00000432022:S633A	.|ENSP00000311513:S832A	I|S	-|-	3|1	3|0	RSF1|RSF1	77089428|77089428	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.677000|0.677000	0.25262|0.25262	2.029000|2.029000	0.59856|0.59856	0.529000|0.529000	0.55759|0.55759	ATT|TCT		0.284	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		24	16	0	0	0	0	24	16				
MAML2	84441	broad.mit.edu	37	11	95825060	95825060	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:95825060C>G	ENST00000524717.1	-	2	3419	c.2135G>C	c.(2134-2136)aGa>aCa	p.R712T		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	712					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCTTACCTGTCTCTGTTGTTG	0.443			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1		NA		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	0				salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(2134-2136)AGA>ACA		mastermind-like 2							79.0	77.0	78.0					11																	95825060		1993	4174	6167	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825060C>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2135G>C	11.37:g.95825060C>G	ENSP00000434552:p.Arg712Thr						p.R712T	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			2	3420	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	712					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2135G>C	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894385	0.52121	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.44083	0.93;0.93	5.44	5.44	0.79542	.	0.300832	0.27636	N	0.018490	T	0.21590	0.0520	N	0.08118	0	0.32972	D	0.522426	P	0.39809	0.689	B	0.34590	0.186	T	0.19877	-1.0292	10	0.14252	T	0.57	-9.2868	14.7694	0.69665	0.0:1.0:0.0:0.0	.	712	Q8IZL2	MAML2_HUMAN	T	712	ENSP00000434552:R712T;ENSP00000412394:R712T	ENSP00000412394:R712T	R	-	2	0	MAML2	95464708	1.000000	0.71417	0.976000	0.42696	0.100000	0.18952	4.072000	0.57563	2.527000	0.85204	0.655000	0.94253	AGA		0.443	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			9	6	0	0	0	0	9	6				
PDGFD	80310	broad.mit.edu	37	11	103780424	103780424	+	Nonstop_Mutation	SNP	A	A	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:103780424A>T	ENST00000393158.2	-	7	1290	c.1111T>A	c.(1111-1113)Taa>Aaa	p.*371K	PDGFD_ENST00000302251.5_Nonstop_Mutation_p.*365K			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	0					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACATTCTCTTATCGAGGTGGT	0.443																																						uc001phq.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1111-1113)TAA>AAA		platelet derived growth factor D isoform 1							273.0	228.0	243.0					11																	103780424		2202	4299	6501	SO:0001578	stop_lost	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103780424A>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1111T>A	11.37:g.103780424A>T						PDGFD_uc001php.2_Nonstop_Mutation_p.*365K	p.*371K	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	7	1483	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	371					A8K9T6|Q9BWV5	Nonstop_Mutation	SNP	ENST00000393158.2	37	c.1111T>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528732	0.64860	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3513	0.83213	1.0:0.0:0.0:0.0	.	.	.	.	K	371;365	.	.	X	-	1	0	PDGFD	103285634	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	5.080000	0.64437	2.252000	0.74401	0.533000	0.62120	TAA		0.443	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		10	68	0	0	0	0	10	68				
VSIG2	23584	broad.mit.edu	37	11	124618415	124618415	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:124618415C>G	ENST00000326621.5	-	6	822	c.722G>C	c.(721-723)cGa>cCa	p.R241P	VSIG2_ENST00000403470.1_Missense_Mutation_p.R241P|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	241						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		TCCGGCCACTCGGCCTTGGGA	0.607																																						uc001qas.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(721-723)CGA>CCA		V-set and immunoglobulin domain containing 2							57.0	58.0	58.0					11																	124618415		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618415C>G	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.722G>C	11.37:g.124618415C>G	ENSP00000318684:p.Arg241Pro					VSIG2_uc001qat.2_Missense_Mutation_p.R241P	p.R241P	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	6	798	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	241			Extracellular (Potential).		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.722G>C	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109706	0.77096	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.75050	-0.86;-0.9	5.65	5.65	0.86999	.	0.379628	0.21922	N	0.067145	D	0.85075	0.5614	M	0.70595	2.14	0.40941	D	0.984468	D	0.76494	0.999	D	0.81914	0.995	D	0.85892	0.1429	10	0.72032	D	0.01	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	241	Q96IQ7	VSIG2_HUMAN	P	241	ENSP00000318684:R241P;ENSP00000385013:R241P	ENSP00000318684:R241P	R	-	2	0	VSIG2	124123625	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.251000	0.43187	2.941000	0.99782	0.655000	0.94253	CGA		0.607	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		25	13	0	0	0	0	25	13				
STT3A	3703	broad.mit.edu	37	11	125479465	125479465	+	Silent	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr11:125479465C>T	ENST00000529196.1	+	11	1304	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	STT3A_ENST00000531491.1_Silent_p.L274L|STT3A_ENST00000392708.4_Silent_p.L366L			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	366					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ACCTGCAGCTCCTCGTCTTCA	0.453																																						uc001qcd.2		NA																	0					0						c.(1096-1098)CTC>CTT		integral membrane protein 1							201.0	173.0	183.0					11																	125479465		2201	4299	6500	SO:0001819	synonymous_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125479465C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1098C>T	11.37:g.125479465C>T						STT3A_uc009zbm.2_Silent_p.L366L|STT3A_uc001qce.2_Silent_p.L366L|STT3A_uc010sbg.1_Silent_p.L274L|STT3A_uc009zbn.2_Intron	p.L366L	NM_152713	NP_689926	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	10	1208	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	366			Helical; (Potential).		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	ENST00000529196.1	37	c.1098C>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	c	11.69	1.712954	0.30413	.	.	ENSG00000134910	ENST00000526726	.	.	.	5.47	0.903	0.19296	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24154	-1.0168	4	.	.	.	-14.0686	0.2339	0.00184	0.2885:0.2702:0.1426:0.2987	.	.	.	.	S	109	.	.	P	+	1	0	STT3A	124984675	0.482000	0.25948	0.992000	0.48379	0.678000	0.39670	-0.301000	0.08232	0.179000	0.19938	-1.594000	0.00841	CCT		0.453	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		37	31	0	0	0	0	37	31				
PZP	5858	broad.mit.edu	37	12	9307319	9307319	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:9307319G>T	ENST00000261336.2	-	29	3695	c.3667C>A	c.(3667-3669)Ctc>Atc	p.L1223I	PZP_ENST00000381997.2_Missense_Mutation_p.L1009I	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1223					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGGCCGTGAGATAAGCGAGG	0.582																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3667-3669)CTC>ATC		pregnancy-zone protein precursor							93.0	84.0	87.0					12																	9307319		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9307319G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3667C>A	12.37:g.9307319G>T	ENSP00000261336:p.Leu1223Ile					PZP_uc009zgl.2_Missense_Mutation_p.L1009I	p.L1223I	NM_002864	NP_002855					29	3696	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3667C>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894475	0.52121	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.37584	1.19;1.19	4.15	3.23	0.37069	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.50627	U	0.000117	T	0.61123	0.2322	M	0.85859	2.78	0.30447	N	0.775638	D;D	0.71674	0.99;0.998	P;D	0.67900	0.822;0.954	T	0.67264	-0.5714	10	0.56958	D	0.05	.	14.0856	0.64954	0.0:0.1529:0.8471:0.0	.	1009;1223	P20742-2;P20742	.;PZP_HUMAN	I	1223;1009	ENSP00000261336:L1223I;ENSP00000371427:L1009I	ENSP00000261336:L1223I	L	-	1	0	PZP	9198586	1.000000	0.71417	0.009000	0.14445	0.105000	0.19272	5.055000	0.64282	1.015000	0.39444	0.563000	0.77884	CTC		0.582	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		20	26	1	0	3.62e-10	1.02e-09	20	26				
KRT86	3892	broad.mit.edu	37	12	52699946	52699946	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:52699946A>G	ENST00000423955.2	+	9	1307	c.1129A>G	c.(1129-1131)Aag>Gag	p.K377E	KRT86_ENST00000293525.5_Missense_Mutation_p.K377E|KRT86_ENST00000544024.1_Missense_Mutation_p.K377E|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	377	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCCCTGCAGAAGGCCAAGCA	0.642											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010snq.1		NA																	0				ovary(1)	1						c.(1129-1131)AAG>GAG		keratin 86							64.0	64.0	64.0					12																	52699946		2203	4300	6503	SO:0001583	missense	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52699946A>G	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1129A>G	12.37:g.52699946A>G	ENSP00000444533:p.Lys377Glu		OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	KRT86_uc009zmg.2_Missense_Mutation_p.K377E|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.K377E	p.K377E	NM_002284	NP_002275	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	8	1262	+			377			Rod.|Coil 2.		P78387	Missense_Mutation	SNP	ENST00000423955.2	37	c.1129A>G	CCDS41785.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438641	0.83885	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	T;T;T	0.77620	-1.11;-1.11;-1.11	5.49	5.49	0.81192	Filament (1);	0.000000	0.43747	U	0.000525	D	0.85708	0.5759	M	0.62154	1.92	0.34126	D	0.664655	D	0.64830	0.994	D	0.71414	0.973	D	0.90803	0.4695	10	0.87932	D	0	.	14.1668	0.65483	1.0:0.0:0.0:0.0	.	377	O43790	KRT86_HUMAN	E	377	ENSP00000443169:K377E;ENSP00000444533:K377E;ENSP00000293525:K377E	ENSP00000293525:K377E	K	+	1	0	AC021066.1;KRT86	50986213	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.901000	0.48695	2.089000	0.63090	0.454000	0.30748	AAG		0.642	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		31	76	0	0	0	0	31	76				
TMEM194A	23306	broad.mit.edu	37	12	57457026	57457026	+	Silent	SNP	G	G	A	rs148717635	byFrequency	TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:57457026G>A	ENST00000300128.4	-	7	879	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	TMEM194A_ENST00000379391.3_Silent_p.L213L	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	286						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGGCCCATCAGCTGCAAGGTC	0.443																																						uc001smy.2		NA																	0					0						c.(856-858)CTG>TTG		transmembrane protein 194A isoform a		G	,	0,4406		0,0,2203	226.0	182.0	197.0		856,637	4.7	1.0	12	dbSNP_134	197	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TMEM194A	NM_001130963.1,NM_015257.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	286/445,213/372	57457026	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23306					integral to membrane		g.chr12:57457026G>A	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.856C>T	12.37:g.57457026G>A						TMEM194A_uc001smx.2_Silent_p.L213L|TMEM194A_uc010sra.1_Silent_p.L27L	p.L286L	NM_001130963	NP_001124435	O14524	T194A_HUMAN			7	902	-			286					Q17R72|Q68DH0|Q6IQ25	Silent	SNP	ENST00000300128.4	37	c.856C>T	CCDS44927.1																																																																																				0.443	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		52	81	0	0	0	0	52	81				
AGAP2	116986	broad.mit.edu	37	12	58124681	58124681	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:58124681T>G	ENST00000547588.1	-	11	2200	c.2201A>C	c.(2200-2202)aAa>aCa	p.K734T	AGAP2_ENST00000257897.3_Missense_Mutation_p.K398T	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	734	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCCCGGGACTTTGACTGTTGT	0.592																																						uc001spq.2		NA																	0				central_nervous_system(3)|breast(2)	5						c.(2200-2202)AAA>ACA		centaurin, gamma 1 isoform PIKE-L							37.0	35.0	35.0					12																	58124681		2202	4300	6502	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58124681T>G	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2201A>C	12.37:g.58124681T>G	ENSP00000449241:p.Lys734Thr					AGAP2_uc001spp.2_Missense_Mutation_p.K734T|AGAP2_uc001spr.2_Missense_Mutation_p.K398T	p.K734T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			11	2201	-			734			PH.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.2201A>C	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.7|24.7	4.557062|4.557062	0.86231|0.86231	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129|ENST00000328568	T;T;T|.	0.78481|.	-1.18;-1.18;-1.18|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73946|0.73946	0.3652|0.3652	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.991;0.999;1.0|.	T|T	0.75001|0.75001	-0.3471|-0.3471	10|5	0.87932|.	D|.	0|.	.|.	14.0916|14.0916	0.64995|0.64995	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	398;734;734|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	T|H	398;734;90|597	ENSP00000257897:K398T;ENSP00000449241:K734T;ENSP00000446683:K90T|.	ENSP00000257897:K398T|.	K|Q	-|-	2|3	0|2	AGAP2|AGAP2	56410948|56410948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.543000|7.543000	0.82106|0.82106	2.234000|2.234000	0.73211|0.73211	0.459000|0.459000	0.35465|0.35465	AAA|CAA		0.592	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		3	7	0	0	0	0	3	7				
XPOT	11260	broad.mit.edu	37	12	64828639	64828639	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:64828639C>G	ENST00000332707.5	+	21	3164	c.2635C>G	c.(2635-2637)Cta>Gta	p.L879V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	879	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CGCATGTTTCCTAGCACCTTT	0.378																																						uc001ssb.2		NA																	0				ovary(2)	2						c.(2635-2637)CTA>GTA		tRNA exportin							144.0	137.0	139.0					12																	64828639		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64828639C>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2635C>G	12.37:g.64828639C>G	ENSP00000327821:p.Leu879Val						p.L879V	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	21	3061	+			879			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2635C>G	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068958	0.36470	.	.	ENSG00000184575	ENST00000332707	T	0.22336	1.96	5.29	2.41	0.29592	.	0.214260	0.40554	N	0.001068	T	0.15089	0.0364	L	0.43152	1.355	0.47584	D	0.999464	B	0.18863	0.031	B	0.14578	0.011	T	0.07673	-1.0760	9	.	.	.	-22.7337	7.3276	0.26563	0.0:0.6188:0.0:0.3812	.	879	O43592	XPOT_HUMAN	V	879	ENSP00000327821:L879V	.	L	+	1	2	XPOT	63114906	0.999000	0.42202	1.000000	0.80357	0.960000	0.62799	0.725000	0.25970	0.745000	0.32763	0.555000	0.69702	CTA		0.378	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		36	59	0	0	0	0	36	59				
GRIP1	23426	broad.mit.edu	37	12	66932903	66932903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:66932903C>A	ENST00000398016.3	-	4	441	c.373G>T	c.(373-375)Gga>Tga	p.G125*	GRIP1_ENST00000286445.7_Nonsense_Mutation_p.G125*|GRIP1_ENST00000359742.4_Nonsense_Mutation_p.G125*	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	170	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACTCTTTCTCCCACATTCTTC	0.498																																						uc001stk.2		NA																	0				ovary(2)	2						c.(373-375)GGA>TGA		glutamate receptor interacting protein 1							213.0	203.0	206.0					12																	66932903		1943	4139	6082	SO:0001587	stop_gained	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66932903C>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.373G>T	12.37:g.66932903C>A	ENSP00000381098:p.Gly125*					GRIP1_uc010sta.1_Nonsense_Mutation_p.G69*|GRIP1_uc001stl.1_Nonsense_Mutation_p.G69*|GRIP1_uc001stm.2_Nonsense_Mutation_p.G125*	p.G125*	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	4	614	-			125			PDZ 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Nonsense_Mutation	SNP	ENST00000398016.3	37	c.373G>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731487	0.89390	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7608	17.7295	0.88373	0.0:1.0:0.0:0.0	.	.	.	.	X	125;125;125;125;69;69;98;69;69;151	.	.	G	-	1	0	GRIP1	65219170	1.000000	0.71417	0.925000	0.36789	0.191000	0.23601	7.818000	0.86416	2.263000	0.75096	0.467000	0.42956	GGA		0.498	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			41	89	1	0	6.49e-15	1.88e-14	41	89				
PTPRB	5787	broad.mit.edu	37	12	70983891	70983891	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:70983891C>A	ENST00000261266.5	-	6	1278	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L	PTPRB_ENST00000538708.1_Missense_Mutation_p.V417L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000334414.6_Missense_Mutation_p.V635L|PTPRB_ENST00000550358.1_Missense_Mutation_p.V635L|PTPRB_ENST00000551525.1_Missense_Mutation_p.V634L|PTPRB_ENST00000451516.2_Intron	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	417	Fibronectin type-III 5. {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)			AGCAGCACCACAGAATCATTG	0.512											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(1249-1251)GTG>TTG		protein tyrosine phosphatase, receptor type, B							138.0	138.0	138.0					12																	70983891		2012	4189	6201	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70983891C>A	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.1249G>T	12.37:g.70983891C>A	ENSP00000261266:p.Val417Leu		OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1126	PTPRB_uc010sto.1_Missense_Mutation_p.V417L|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Missense_Mutation_p.V635L|PTPRB_uc001swa.3_Missense_Mutation_p.V635L|PTPRB_uc001swd.3_Missense_Mutation_p.V634L|PTPRB_uc009zrr.1_Missense_Mutation_p.V514L	p.V417L	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)		6	1279	-	Renal(347;0.236)		417			Fibronectin type-III 5.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1249G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.062038	0.00386	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.53	0.54	0.17163	Fibronectin, type III (4);Immunoglobulin-like fold (1);	2.293470	0.01766	N	0.030884	T	0.30665	0.0772	N	0.04203	-0.255	0.09310	N	0.999999	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B	0.09377	0.002;0.004;0.002;0.001;0.002;0.003	T	0.16689	-1.0394	10	0.18710	T	0.47	.	7.6783	0.28499	0.2363:0.5995:0.0701:0.0941	.	417;514;634;635;417;635	F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	L	635;635;635;417;417;634;514	ENSP00000334928:V635L;ENSP00000448058:V635L;ENSP00000438927:V417L;ENSP00000261266:V417L;ENSP00000448349:V634L;ENSP00000446982:V514L	ENSP00000261266:V417L	V	-	1	0	PTPRB	69270158	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.190000	0.09615	-0.142000	0.11354	0.655000	0.94253	GTG		0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			51	78	1	0	2.43e-25	7.15e-25	51	78				
DNAH10	196385	broad.mit.edu	37	12	124270320	124270320	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:124270320G>A	ENST00000409039.3	+	9	1100	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	359	Stem. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGCTTCCACGTGGTCCTGGA	0.537																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1075-1077)GTG>ATG		dynein, axonemal, heavy chain 10							110.0	87.0	95.0					12																	124270320		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124270320G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1075G>A	12.37:g.124270320G>A	ENSP00000386770:p.Val359Met						p.V359M	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	9	1100	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		359			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.1075G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	12.88	2.070695	0.36566	.	.	ENSG00000197653	ENST00000409039	T	0.54675	0.56	5.82	3.98	0.46160	Dynein heavy chain, domain-1 (1);	0.102870	0.37304	N	0.002149	T	0.61813	0.2377	M	0.76574	2.34	0.34593	D	0.715727	D	0.54772	0.968	P	0.52957	0.714	T	0.74034	-0.3794	10	0.46703	T	0.11	.	11.1459	0.48430	0.1997:0.0:0.8003:0.0	.	359	Q8IVF4	DYH10_HUMAN	M	359	ENSP00000386770:V359M	ENSP00000386770:V359M	V	+	1	0	DNAH10	122836273	1.000000	0.71417	0.132000	0.22025	0.035000	0.12851	2.870000	0.48451	1.468000	0.48064	0.561000	0.74099	GTG		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			23	46	0	0	0	0	23	46				
MPHOSPH8	54737	broad.mit.edu	37	13	20221396	20221396	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr13:20221396G>A	ENST00000361479.5	+	3	1251	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E395K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	395					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAGCGGGGAAGAGAGAGGCCT	0.542																																						uc001umh.2		NA																	0					0						c.(1183-1185)GAG>AAG		M-phase phosphoprotein 8							34.0	36.0	36.0					13																	20221396		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20221396G>A	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1183G>A	13.37:g.20221396G>A	ENSP00000355388:p.Glu395Lys					MPHOSPH8_uc001umf.1_Missense_Mutation_p.E395K|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E395K|MPHOSPH8_uc001umi.2_Missense_Mutation_p.E92K	p.E395K	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	3	1192	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	395					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1183G>A	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116703	0.37339	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.46819	0.86;0.89	5.61	5.61	0.85477	.	0.750716	0.12440	N	0.468809	T	0.58921	0.2156	L	0.50333	1.59	0.50632	D	0.999886	P;P;D;B	0.55385	0.775;0.914;0.971;0.237	B;B;P;B	0.53401	0.225;0.439;0.725;0.091	T	0.52801	-0.8527	10	0.33940	T	0.23	.	19.6274	0.95684	0.0:0.0:1.0:0.0	.	395;395;395;395	F5H8H9;Q99549;Q99549-2;B3KS10	.;MPP8_HUMAN;.;.	K	395	ENSP00000414663:E395K;ENSP00000355388:E395K	ENSP00000355388:E395K	E	+	1	0	MPHOSPH8	19119396	1.000000	0.71417	0.113000	0.21522	0.051000	0.14879	6.522000	0.73783	2.634000	0.89283	0.585000	0.79938	GAG		0.542	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		5	48	0	0	0	0	5	48				
OLFM4	10562	broad.mit.edu	37	13	53624472	53624472	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr13:53624472G>A	ENST00000219022.2	+	5	1177	c.1099G>A	c.(1099-1101)Gct>Act	p.A367T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	367	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCTCCCTAATGCTGCCTATAA	0.408																																						uc001vhl.2		NA																	0				skin(1)	1						c.(1099-1101)GCT>ACT		olfactomedin 4 precursor							208.0	204.0	205.0					13																	53624472		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53624472G>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1099G>A	13.37:g.53624472G>A	ENSP00000219022:p.Ala367Thr					OLFM4_uc001vhk.1_3'UTR	p.A367T	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1099	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	367			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.1099G>A	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121131	0.77436	.	.	ENSG00000102837	ENST00000219022	T	0.11385	2.78	5.92	5.92	0.95590	Olfactomedin-like (3);	0.055928	0.64402	D	0.000001	T	0.44074	0.1276	M	0.90309	3.105	0.52099	D	0.999945	D	0.76494	0.999	D	0.73380	0.98	T	0.49560	-0.8927	10	0.87932	D	0	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	367	Q6UX06	OLFM4_HUMAN	T	367	ENSP00000219022:A367T	ENSP00000219022:A367T	A	+	1	0	OLFM4	52522473	1.000000	0.71417	0.981000	0.43875	0.574000	0.36063	9.441000	0.97557	2.801000	0.96364	0.650000	0.86243	GCT		0.408	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		32	46	0	0	0	0	32	46				
AJUBA	84962	broad.mit.edu	37	14	23447583	23447583	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr14:23447583G>A	ENST00000262713.2	-	2	1453	c.1078C>T	c.(1078-1080)Cac>Tac	p.H360Y	AJUBA_ENST00000361265.4_Missense_Mutation_p.H360Y|AJUBA_ENST00000397388.3_5'Flank|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	360	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CACTGGGTGTGGTAGAGGCTG	0.527																																						uc001whz.2		NA																	0					0						c.(1078-1080)CAC>TAC		ajuba isoform 1							207.0	177.0	187.0					14																	23447583		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447583G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1078C>T	14.37:g.23447583G>A	ENSP00000262713:p.His360Tyr					JUB_uc001why.2_5'Flank	p.H360Y	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	2	1454	-	all_cancers(95;4.6e-05)		360			LIM zinc-binding 1.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1078C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459909	0.84317	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.96365	-3.99;-3.99	5.02	4.1	0.47936	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000002	D	0.98979	0.9652	H	0.99404	4.55	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.98521	1.0623	10	0.87932	D	0	.	13.0235	0.58802	0.0:0.1635:0.8365:0.0	.	360	Q96IF1	JUB_HUMAN	Y	360	ENSP00000262713:H360Y;ENSP00000354491:H360Y	ENSP00000262713:H360Y	H	-	1	0	JUB	22517423	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.898000	0.92538	1.072000	0.40860	0.563000	0.77884	CAC		0.527	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			77	24	0	0	0	0	77	24				
MDGA2	161357	broad.mit.edu	37	14	47351355	47351355	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr14:47351355T>A	ENST00000399232.2	-	11	2465	c.2101A>T	c.(2101-2103)Aca>Tca	p.T701S	MDGA2_ENST00000439988.3_Missense_Mutation_p.T770S|MDGA2_ENST00000426342.1_Missense_Mutation_p.T472S|MDGA2_ENST00000357362.3_Missense_Mutation_p.T472S|MDGA2_ENST00000399222.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	701	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAGTTATATGTAATTAATTCT	0.373																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2101-2103)ACA>TCA		MAM domain containing 1 isoform 1							65.0	62.0	63.0					14																	47351355		1825	4086	5911	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47351355T>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2101A>T	14.37:g.47351355T>A	ENSP00000382178:p.Thr701Ser					MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.T472S|MDGA2_uc010ani.2_Missense_Mutation_p.T261S	p.T701S	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			11	2297	-			701					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2101A>T		.	.	.	.	.	.	.	.	.	.	T	12.67	2.008462	0.35415	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.1	5.1	0.69264	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000066	T	0.29749	0.0743	N	0.04203	-0.255	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.15484	0.013;0.006	T	0.13737	-1.0498	10	0.15499	T	0.54	.	13.9984	0.64416	0.0:0.0:0.0:1.0	.	472;701	F6W3S7;Q7Z553	.;MDGA2_HUMAN	S	701;472;770;472	ENSP00000400011:T701S;ENSP00000405456:T472S;ENSP00000382178:T770S;ENSP00000349925:T472S	ENSP00000349925:T472S	T	-	1	0	MDGA2	46421105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.802000	0.69122	2.059000	0.61396	0.383000	0.25322	ACA		0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		18	17	0	0	0	0	18	17				
LOC100288637	100288637	broad.mit.edu	37	15	30938316	30938316	+	lincRNA	SNP	G	G	A	rs112615235		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr15:30938316G>A	ENST00000602684.1	+	0	0																											TTCCTTGGCAGTGGATAAGTT	0.393																																						uc010azv.1		NA																	0					0						c.e11-1		Homo sapiens cDNA, FLJ17072.																																						89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30938316G>A																													15.37:g.30938316G>A						ARHGAP11B_uc001zeu.2_Splice_Site				Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	11		+		all_lung(180;2.71e-09)|Breast(32;0.00116)							Splice_Site	SNP	ENST00000602684.1	37	c.1127_splice																																																																																					0.393	RP11-932O9.10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467507.1			3	26	0	0	0	0	3	26				
EIF2AK4	440275	broad.mit.edu	37	15	40295429	40295429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr15:40295429C>T	ENST00000263791.5	+	23	3314	c.3271C>T	c.(3271-3273)Cga>Tga	p.R1091*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.R1063*|EIF2AK4_ENST00000559311.1_3'UTR	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1091	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACTGCTTCCCCGAAACAGACA	0.473																																						uc001zkm.1		NA																	0				lung(2)|stomach(1)|skin(1)	4						c.(3271-3273)CGA>TGA		eukaryotic translation initiation factor 2 alpha							124.0	118.0	120.0					15																	40295429		2002	4170	6172	SO:0001587	stop_gained	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40295429C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3271C>T	15.37:g.40295429C>T	ENSP00000263791:p.Arg1091*					EIF2AK4_uc010bbj.1_Nonsense_Mutation_p.R792*|EIF2AK4_uc001zkn.1_Nonsense_Mutation_p.R191*|EIF2AK4_uc001zko.1_Nonsense_Mutation_p.R29*	p.R1091*	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	23	3321	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1091			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Nonsense_Mutation	SNP	ENST00000263791.5	37	c.3271C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	41	8.815064	0.98964	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.79	5.79	0.91817	.	0.061993	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3499	14.7178	0.69284	0.1793:0.8207:0.0:0.0	.	.	.	.	X	1091;1063	.	ENSP00000263791:R1091X	R	+	1	2	EIF2AK4	38082721	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.409000	0.66374	2.727000	0.93392	0.591000	0.81541	CGA		0.473	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			19	41	0	0	0	0	19	41				
CENPT	80152	broad.mit.edu	37	16	67865170	67865170	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr16:67865170C>T	ENST00000562787.1	-	10	1200	c.652G>A	c.(652-654)Gac>Aac	p.D218N	CENPT_ENST00000445712.2_Missense_Mutation_p.D115N|CENPT_ENST00000564817.1_Missense_Mutation_p.D218N|CENPT_ENST00000219172.3_Missense_Mutation_p.D218N|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.D218N	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	218	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCACCCACGTCTACAGCTCGG	0.607																																						uc002eun.3		NA																	0					0						c.(652-654)GAC>AAC		centromere protein T							60.0	68.0	66.0					16																	67865170		1982	4158	6140	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865170C>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.652G>A	16.37:g.67865170C>T	ENSP00000457810:p.Asp218Asn					CENPT_uc002eum.3_Missense_Mutation_p.D218N|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_Missense_Mutation_p.D115N	p.D218N	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	10	1201	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	218					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.652G>A	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740186	0.49045	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.46451	0.87;0.87;0.87	5.37	3.39	0.38822	.	0.416784	0.22937	N	0.053836	T	0.29850	0.0746	L	0.46741	1.465	0.09310	N	1	B;P;P	0.40107	0.215;0.703;0.539	B;B;B	0.38562	0.17;0.276;0.17	T	0.09122	-1.0689	10	0.11485	T	0.65	-7.6759	6.7194	0.23323	0.0:0.7902:0.0:0.2098	.	115;218;218	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	N	218;218;115	ENSP00000400140:D218N;ENSP00000219172:D218N;ENSP00000411594:D115N	ENSP00000219172:D218N	D	-	1	0	CENPT	66422671	0.997000	0.39634	0.568000	0.28447	0.347000	0.29111	1.376000	0.34306	1.260000	0.44134	0.650000	0.86243	GAC		0.607	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		37	31	0	0	0	0	37	31				
CBFA2T3	863	broad.mit.edu	37	16	88951552	88951552	+	Missense_Mutation	SNP	G	G	A	rs151180006		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr16:88951552G>A	ENST00000268679.4	-	7	1415	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P302L|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P254L|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P254L|RP11-830F9.5_ENST00000565053.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.P264L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	340	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCGGTAGTGCGGCGGCGGTGT	0.697			T	RUNX1	AML																																	uc002fmm.1		NA		Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				large_intestine(3)|ovary(1)	4						c.(1018-1020)CCG>CTG		myeloid translocation gene on chromosome 16		G	LEU/PRO,LEU/PRO	1,4381	2.1+/-5.4	0,1,2190	79.0	68.0	72.0		1019,761	4.3	0.1	16	dbSNP_134	72	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense	CBFA2T3	NM_005187.5,NM_175931.2	98,98	0,3,6481	AA,AG,GG		0.0233,0.0228,0.0231	benign,benign	340/654,254/568	88951552	3,12965	2191	4293	6484	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88951552G>A	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1019C>T	16.37:g.88951552G>A	ENSP00000268679:p.Pro340Leu					CBFA2T3_uc002fml.1_Missense_Mutation_p.P254L|CBFA2T3_uc010cif.1_Missense_Mutation_p.P279L|CBFA2T3_uc002fmn.1_Missense_Mutation_p.P315L	p.P340L	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	7	1205	-			340			Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1019C>T	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452740	0.26074	2.28E-4	2.33E-4	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.49139	1.4;0.81;0.79;1.39;1.4	4.29	4.29	0.51040	.	0.478684	0.22155	N	0.063871	T	0.31071	0.0785	N	0.22421	0.69	0.34641	D	0.720614	P;P;P;B	0.49862	0.913;0.929;0.596;0.311	B;B;B;B	0.34038	0.174;0.167;0.103;0.103	T	0.51332	-0.8719	10	0.42905	T	0.14	-21.7605	17.0408	0.86489	0.0:0.0:1.0:0.0	.	302;340;340;254	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	L	254;340;302;264;254	ENSP00000332122:P254L;ENSP00000268679:P340L;ENSP00000395739:P302L;ENSP00000401254:P264L;ENSP00000353449:P254L	ENSP00000268679:P340L	P	-	2	0	CBFA2T3	87479053	1.000000	0.71417	0.112000	0.21494	0.083000	0.17756	2.777000	0.47717	2.413000	0.81919	0.449000	0.29647	CCG		0.697	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		7	19	0	0	0	0	7	19				
ABR	29	broad.mit.edu	37	17	1028581	1028581	+	Silent	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr17:1028581G>A	ENST00000302538.5	-	2	329	c.183C>T	c.(181-183)agC>agT	p.S61S	ABR_ENST00000544583.2_Silent_p.S15S|ABR_ENST00000574437.1_Silent_p.S15S	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	61					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGCTGCGGGCGCTGAGCTGCG	0.662																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(181-183)AGC>AGT		active breakpoint cluster region-related							79.0	78.0	78.0					17																	1028581		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028581G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.183C>T	17.37:g.1028581G>A						ABR_uc002fse.2_Silent_p.S15S|ABR_uc010cjq.1_Silent_p.S73S	p.S61S	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	293	-			61					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.183C>T	CCDS10999.1																																																																																				0.662	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			33	70	0	0	0	0	33	70				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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		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		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578212G>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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	13	0	0	0	0	25	13				
SLC47A2	146802	broad.mit.edu	37	17	19583338	19583338	+	Silent	SNP	T	T	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr17:19583338T>G	ENST00000325411.5	-	16	1565	c.1515A>C	c.(1513-1515)tcA>tcC	p.S505S	SLC47A2_ENST00000350657.5_Silent_p.S483S|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	505					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GCTGCCGGCCTGAATGTTTCT	0.498																																						uc002gwe.3		NA																	0					0						c.(1513-1515)TCA>TCC		solute carrier family 47, member 2 isoform 1							83.0	71.0	75.0					17																	19583338		2203	4300	6503	SO:0001819	synonymous_variant	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19583338T>G	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1515A>C	17.37:g.19583338T>G						SLC47A2_uc002gwg.3_Silent_p.S469S|SLC47A2_uc002gwf.3_Silent_p.S483S|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA	p.S505S	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN			16	1690	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		505			Cytoplasmic (Potential).		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	c.1515A>C	CCDS11211.1																																																																																				0.498	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		14	24	0	0	0	0	14	24				
NXPH3	11248	broad.mit.edu	37	17	47656378	47656378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr17:47656378C>T	ENST00000328741.5	+	2	837	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Nonsense_Mutation_p.Q159*	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	159	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					AGAGTTCCACCAGGAACAGCA	0.567																																						uc002ipa.2		NA																	0				pancreas(1)|skin(1)	2						c.(475-477)CAG>TAG		neurexophilin 3 precursor							115.0	98.0	104.0					17																	47656378		2203	4300	6503	SO:0001587	stop_gained	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656378C>T	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.475C>T	17.37:g.47656378C>T	ENSP00000329295:p.Gln159*					NXPH3_uc010wlw.1_Nonsense_Mutation_p.Q159*	p.Q159*	NM_007225	NP_009156	O95157	NXPH3_HUMAN			2	759	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		159			IV (linker domain).		Q8NDC3|Q8TBF6|Q9ULR1	Nonsense_Mutation	SNP	ENST00000328741.5	37	c.475C>T	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	c	35	5.523112	0.96431	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.44	4.44	0.53790	.	0.070231	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-18.9162	16.8809	0.86062	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000329295:Q159X	Q	+	1	0	NXPH3	45011377	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.353000	0.44089	2.310000	0.77875	0.556000	0.70494	CAG		0.567	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			5	77	0	0	0	0	5	77				
SS18	6760	broad.mit.edu	37	18	23632698	23632698	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr18:23632698G>A	ENST00000415083.2	-	5	552	c.497C>T	c.(496-498)tCt>tTt	p.S166F	SS18_ENST00000269137.7_Missense_Mutation_p.S166F|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000539849.1_Missense_Mutation_p.S84F|SS18_ENST00000545952.1_Missense_Mutation_p.S114F|SS18_ENST00000542743.1_Missense_Mutation_p.S114F|SS18_ENST00000542420.2_Missense_Mutation_p.S143F	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	166	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TGATGGCACAGAATGGTTGTA	0.458			T	"""SSX1,  SSX2"""	synovial sarcoma																																	uc002kvm.2		NA		Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	SSX1| SSX2		synovial sarcoma	SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	0				soft_tissue(1883)|ovary(1)	1884						c.(496-498)TCT>TTT		synovial sarcoma translocation, chromosome 18							287.0	244.0	259.0					18																	23632698		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23632698G>A	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.497C>T	18.37:g.23632698G>A	ENSP00000414516:p.Ser166Phe					SS18_uc002kvn.2_Missense_Mutation_p.S166F|SS18_uc010xbf.1_Missense_Mutation_p.S84F|SS18_uc010xbg.1_Missense_Mutation_p.S114F|SS18_uc010xbh.1_Missense_Mutation_p.S114F|SS18_uc010xbi.1_Missense_Mutation_p.S143F|SS18_uc010dlz.1_Missense_Mutation_p.S114F	p.S166F	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN			5	575	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		166			Transcriptional activation.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.497C>T	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947711	0.53186	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T;T	0.35789	1.29;1.41;1.36;1.39;1.39;1.39	5.77	5.77	0.91146	.	0.214788	0.50627	D	0.000104	T	0.43964	0.1271	L	0.29908	0.895	0.58432	D	0.999999	B;P;D	0.58970	0.145;0.61;0.984	B;B;P	0.53593	0.085;0.191;0.73	T	0.21449	-1.0245	10	0.52906	T	0.07	-1.5449	20.3626	0.98863	0.0:0.0:1.0:0.0	.	114;166;166	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	F	169;166;166;143;114;84;114	ENSP00000414516:S169F;ENSP00000269137:S166F;ENSP00000438066:S143F;ENSP00000444551:S114F;ENSP00000444647:S84F;ENSP00000443097:S114F	ENSP00000269137:S166F	S	-	2	0	SS18	21886696	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	9.398000	0.97281	2.885000	0.99019	0.655000	0.94253	TCT		0.458	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			48	92	0	0	0	0	48	92				
RTTN	25914	broad.mit.edu	37	18	67843922	67843922	+	Missense_Mutation	SNP	G	G	A	rs201608696		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr18:67843922G>A	ENST00000255674.6	-	11	1751	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	RTTN_ENST00000454359.1_Missense_Mutation_p.P489S|RTTN_ENST00000437017.1_Missense_Mutation_p.P489S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	489					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTTTCAACAGGGAGAAGCGTT	0.418																																						uc002lkp.2		NA																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(1465-1467)CCT>TCT		rotatin							92.0	90.0	91.0					18																	67843922		1906	4134	6040	SO:0001583	missense	25914						binding	g.chr18:67843922G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1465C>T	18.37:g.67843922G>A	ENSP00000255674:p.Pro489Ser					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.P489S	p.P489S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			11	1533	-		Esophageal squamous(42;0.129)	489					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.1465C>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265230	0.40095	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	D;D;D	0.90955	-2.14;-2.11;-2.76	5.31	5.31	0.75309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95059	0.8400	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95082	0.8214	10	0.59425	D	0.04	.	18.9931	0.92801	0.0:0.0:1.0:0.0	.	489;489	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	S	489	ENSP00000255674:P489S;ENSP00000402352:P489S;ENSP00000399520:P489S	ENSP00000255674:P489S	P	-	1	0	RTTN	65994902	1.000000	0.71417	0.975000	0.42487	0.747000	0.42532	7.951000	0.87819	2.475000	0.83589	0.544000	0.68410	CCT		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		26	59	0	0	0	0	26	59				
MUC16	94025	broad.mit.edu	37	19	9046408	9046408	+	Silent	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:9046408C>T	ENST00000397910.4	-	5	35426	c.35223G>A	c.(35221-35223)gaG>gaA	p.E11741E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11743	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						AAGTCACCATCTCTGGTGCAC	0.493																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35221-35223)GAG>GAA		mucin 16							131.0	123.0	125.0					19																	9046408		1994	4177	6171	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046408C>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.35223G>A	19.37:g.9046408C>T							p.E11741E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35427	-			11743			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.35223G>A	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		44	52	0	0	0	0	44	52				
EPS15L1	58513	broad.mit.edu	37	19	16514739	16514739	+	Missense_Mutation	SNP	G	G	C	rs192855827		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:16514739G>C	ENST00000248070.6	-	15	1570	c.1431C>G	c.(1429-1431)atC>atG	p.I477M	EPS15L1_ENST00000597937.1_Missense_Mutation_p.I477M|EPS15L1_ENST00000602009.1_Missense_Mutation_p.I323M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.I477M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.I477M|EPS15L1_ENST00000535753.2_Missense_Mutation_p.I477M	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	477					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCAGTGATGAGATCTGAAATG	0.458																																						uc002ndz.1		NA																	0				ovary(3)|skin(2)	5						c.(1429-1431)ATC>ATG		epidermal growth factor receptor pathway							109.0	96.0	101.0					19																	16514739		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16514739G>C	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1431C>G	19.37:g.16514739G>C	ENSP00000248070:p.Ile477Met					EPS15L1_uc002ndx.2_Missense_Mutation_p.I477M|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.I367M|EPS15L1_uc010xpf.1_Missense_Mutation_p.I380M|EPS15L1_uc002nea.1_Missense_Mutation_p.I477M|EPS15L1_uc010eah.1_Missense_Mutation_p.I477M|EPS15L1_uc002neb.1_Missense_Mutation_p.I323M|EPS15L1_uc002nec.1_Missense_Mutation_p.I477M	p.I477M	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			15	1437	-			477					A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.1431C>G	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401606	0.25291	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	D;D;D	0.83075	-1.68;-1.68;-1.68	5.45	-0.636	0.11508	.	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	M	0.65498	2.005	0.50632	D	0.999888	D;P;D;D;P;D	0.89917	0.999;0.877;0.999;1.0;0.874;0.962	D;P;D;D;P;P	0.71184	0.949;0.546;0.959;0.972;0.477;0.798	T	0.80879	-0.1185	10	0.48119	T	0.1	.	5.0156	0.14335	0.6332:0.0:0.2222:0.1446	.	477;477;476;477;477;477	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	M	477	ENSP00000393313:I477M;ENSP00000248070:I477M;ENSP00000440103:I477M	ENSP00000248070:I477M	I	-	3	3	EPS15L1	16375739	0.991000	0.36638	0.966000	0.40874	0.097000	0.18754	0.411000	0.21115	-0.048000	0.13401	-0.948000	0.02665	ATC		0.458	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		13	21	0	0	0	0	13	21				
UQCRFS1	7386	broad.mit.edu	37	19	29698472	29698472	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:29698472T>C	ENST00000304863.4	-	2	1230	c.808A>G	c.(808-810)Atg>Gtg	p.M270V		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	270	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			ACAATCACCATATCGTCACTG	0.473																																						uc002nsd.2		NA																	0					0						c.(808-810)ATG>GTG		ubiquinol-cytochrome c reductase, Rieske							65.0	60.0	62.0					19																	29698472		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698472T>C	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.808A>G	19.37:g.29698472T>C	ENSP00000306397:p.Met270Val						p.M270V	NM_006003	NP_005994	P47985	UCRI_HUMAN	Lung(7;0.092)		2	919	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		270			Rieske.		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.808A>G	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.505595	0.00155	.	.	ENSG00000169021	ENST00000304863	T	0.39997	1.05	5.0	-10.0	0.00425	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (3);	0.866844	0.10419	N	0.676908	T	0.09949	0.0244	N	0.02181	-0.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14839	-1.0458	10	0.18276	T	0.48	.	1.1586	0.01801	0.366:0.2444:0.2232:0.1664	.	270	P47985	UCRI_HUMAN	V	270	ENSP00000306397:M270V	ENSP00000306397:M270V	M	-	1	0	UQCRFS1	34390312	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.265000	0.00534	-3.970000	0.00086	-0.466000	0.05196	ATG		0.473	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		14	26	0	0	0	0	14	26				
ZNF507	22847	broad.mit.edu	37	19	32844889	32844889	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:32844889A>G	ENST00000311921.4	+	2	1345	c.1153A>G	c.(1153-1155)Atc>Gtc	p.I385V	ZNF507_ENST00000544431.1_Missense_Mutation_p.I385V|ZNF507_ENST00000355898.5_Missense_Mutation_p.I385V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	385					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(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ACAGAAAATCATCAGCAGCAG	0.458																																						uc002nte.2		NA																	0				ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1153-1155)ATC>GTC		zinc finger protein 507							57.0	56.0	56.0					19																	32844889		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844889A>G	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1153A>G	19.37:g.32844889A>G	ENSP00000312277:p.Ile385Val					ZNF507_uc002ntc.2_Missense_Mutation_p.I385V|ZNF507_uc010xrn.1_Missense_Mutation_p.I385V|ZNF507_uc002ntd.2_Missense_Mutation_p.I385V	p.I385V	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	1425	+	Esophageal squamous(110;0.162)		385					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.1153A>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.399757	0.25291	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.12465	3.0;3.0;2.68	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	M	0.72894	2.215	0.46798	D	0.999201	D;D	0.76494	0.994;0.999	D;D	0.80764	0.987;0.994	T	0.09378	-1.0677	10	0.54805	T	0.06	-11.1202	16.0214	0.80499	1.0:0.0:0.0:0.0	.	385;385	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	V	385	ENSP00000348162:I385V;ENSP00000312277:I385V;ENSP00000441549:I385V	ENSP00000312277:I385V	I	+	1	0	ZNF507	37536729	1.000000	0.71417	0.997000	0.53966	0.114000	0.19823	8.957000	0.93082	2.171000	0.68590	0.533000	0.62120	ATC		0.458	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		29	44	0	0	0	0	29	44				
ZNF345	25850	broad.mit.edu	37	19	37368870	37368870	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:37368870G>A	ENST00000529555.1	+	2	1926	c.1138G>A	c.(1138-1140)Ggt>Agt	p.G380S	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.G380S|ZNF345_ENST00000420450.1_Missense_Mutation_p.G380S|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	380					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGGCCTTTGGTAGTGGCTC	0.418																																						uc002oex.2		NA																	0				ovary(1)	1						c.(1138-1140)GGT>AGT		zinc finger protein 345							87.0	83.0	84.0					19																	37368870		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368870G>A	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1138G>A	19.37:g.37368870G>A	ENSP00000431202:p.Gly380Ser					ZNF345_uc002oey.3_Missense_Mutation_p.G380S|ZNF345_uc002oez.2_Intron	p.G380S	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	1516	+	Esophageal squamous(110;0.183)		380			C2H2-type 12.			Missense_Mutation	SNP	ENST00000529555.1	37	c.1138G>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.945374	0.00479	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.38240	1.15;1.15	3.93	0.278	0.15673	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11793	0.0287	N	0.03881	-0.34	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34477	-0.9827	9	0.02654	T	1	.	5.5429	0.17047	0.2078:0.1671:0.6251:0.0	.	380	Q14585	ZN345_HUMAN	S	380;380;144	ENSP00000431216:G380S;ENSP00000431202:G380S	ENSP00000442320:G144S	G	+	1	0	ZNF345	42060710	0.000000	0.05858	0.997000	0.53966	0.494000	0.33585	-2.569000	0.00915	0.414000	0.25790	-0.291000	0.09656	GGT		0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			14	50	0	0	0	0	14	50				
ZNF345	25850	broad.mit.edu	37	19	37368948	37368948	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:37368948T>G	ENST00000529555.1	+	2	2004	c.1216T>G	c.(1216-1218)Tcc>Gcc	p.S406A	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.S406A|ZNF345_ENST00000420450.1_Missense_Mutation_p.S406A|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	406					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTGGAAAGTCCTTTAGTAG	0.433																																						uc002oex.2		NA																	0				ovary(1)	1						c.(1216-1218)TCC>GCC		zinc finger protein 345							85.0	81.0	83.0					19																	37368948		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368948T>G	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1216T>G	19.37:g.37368948T>G	ENSP00000431202:p.Ser406Ala					ZNF345_uc002oey.3_Missense_Mutation_p.S406A|ZNF345_uc002oez.2_Intron	p.S406A	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	1594	+	Esophageal squamous(110;0.183)		406			C2H2-type 13.			Missense_Mutation	SNP	ENST00000529555.1	37	c.1216T>G	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.345799	0.00222	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.48201	0.82;0.82	3.37	1.09	0.20402	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22742	0.0549	N	0.16862	0.45	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	9	0.02654	T	1	.	4.9149	0.13840	0.1752:0.0:0.2055:0.6193	.	406	Q14585	ZN345_HUMAN	A	406;406;170	ENSP00000431216:S406A;ENSP00000431202:S406A	ENSP00000442320:S170A	S	+	1	0	ZNF345	42060788	0.000000	0.05858	0.967000	0.41034	0.477000	0.33069	-2.982000	0.00662	0.145000	0.18977	0.459000	0.35465	TCC		0.433	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			8	42	0	0	0	0	8	42				
ZNF225	7768	broad.mit.edu	37	19	44636171	44636171	+	Silent	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:44636171C>T	ENST00000262894.6	+	5	1684	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.A468A	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TTGGCTGGGCCTCGTGTCTTT	0.418																																						uc002oyj.1		NA																	0					0						c.(1402-1404)GCC>GCT		zinc finger protein 225							69.0	74.0	72.0					19																	44636171		2201	4300	6501	SO:0001819	synonymous_variant	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636171C>T	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1404C>T	19.37:g.44636171C>T						ZNF225_uc010eje.1_Silent_p.A385A|ZNF225_uc010ejf.1_Silent_p.A468A	p.A468A	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			5	1647	+		Prostate(69;0.0352)|all_neural(266;0.202)	468			C2H2-type 11.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	ENST00000262894.6	37	c.1404C>T	CCDS46100.1																																																																																				0.418	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			27	34	0	0	0	0	27	34				
ZNF233	353355	broad.mit.edu	37	19	44777755	44777755	+	Silent	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:44777755T>C	ENST00000391958.2	+	5	1069	c.942T>C	c.(940-942)taT>taC	p.Y314Y	ZNF233_ENST00000334152.1_Silent_p.Y296Y|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	314					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)				AGAAATGCTATAGGAATGGTG	0.488																																						uc002oyz.1		NA																	0				skin(2)	2						c.(940-942)TAT>TAC		zinc finger protein 233							74.0	68.0	70.0					19																	44777755		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777755T>C	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.942T>C	19.37:g.44777755T>C						ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.Y129Y	p.Y314Y	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	1069	+		Prostate(69;0.0435)|all_neural(266;0.226)	314			C2H2-type 2; degenerate.		B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.942T>C	CCDS33047.1																																																																																				0.488	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		22	29	0	0	0	0	22	29				
COLEC11	78989	broad.mit.edu	37	2	3691423	3691423	+	Silent	SNP	G	G	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:3691423G>T	ENST00000349077.4	+	7	634	c.531G>T	c.(529-531)ctG>ctT	p.L177L	COLEC11_ENST00000402922.1_Silent_p.L127L|COLEC11_ENST00000382062.2_Silent_p.L153L|COLEC11_ENST00000418971.2_Silent_p.L191L|COLEC11_ENST00000236693.7_Silent_p.L174L|COLEC11_ENST00000404205.1_Silent_p.L103L|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402794.1_Silent_p.L127L|COLEC11_ENST00000403096.3_Silent_p.L151L	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	177	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GGGGCACGCTGAGCATGCCCA	0.667																																						uc002qya.2		NA																	0					0						c.(529-531)CTG>CTT		collectin sub-family member 11 isoform a							32.0	35.0	34.0					2																	3691423		2202	4299	6501	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691423G>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.531G>T	2.37:g.3691423G>T						COLEC11_uc002qxz.2_Silent_p.L174L|COLEC11_uc002qyb.2_Silent_p.L153L|COLEC11_uc002qyc.2_Silent_p.L153L|COLEC11_uc010ewo.2_Silent_p.L129L|COLEC11_uc010ewp.2_Silent_p.L151L|COLEC11_uc010ewq.2_Silent_p.L127L|COLEC11_uc010ewr.2_Silent_p.L127L|COLEC11_uc010ews.2_Silent_p.L103L	p.L177L	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	7	679	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		177			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.531G>T	CCDS1649.1																																																																																				0.667	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		19	26	1	0	1.02e-10	2.87e-10	19	26				
KCNS3	3790	broad.mit.edu	37	2	18112633	18112633	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:18112633C>T	ENST00000403915.1	+	3	809	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R120C	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	120					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.R120C(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAGCAATCGCTACCAGGA	0.507																																						uc002rcv.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(358-360)CGC>TGC		potassium voltage-gated channel							109.0	110.0	110.0					2																	18112633		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112633C>T	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.358C>T	2.37:g.18112633C>T	ENSP00000385968:p.Arg120Cys					KCNS3_uc002rcw.2_Missense_Mutation_p.R120C	p.R120C	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	809	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		120			Cytoplasmic (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.358C>T	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704490	0.48412	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	T;T	0.43688	0.94;0.94	5.65	4.72	0.59763	BTB/POZ-like (1);BTB/POZ fold (2);	0.318362	0.34411	N	0.003982	T	0.49949	0.1587	M	0.73962	2.25	0.58432	D	0.999999	D	0.69078	0.997	P	0.47470	0.548	T	0.57341	-0.7828	10	0.72032	D	0.01	.	13.6152	0.62103	0.3152:0.6848:0.0:0.0	.	120	Q9BQ31	KCNS3_HUMAN	C	120	ENSP00000385968:R120C;ENSP00000305824:R120C	ENSP00000305824:R120C	R	+	1	0	KCNS3	17976114	0.995000	0.38212	0.974000	0.42286	0.988000	0.76386	3.032000	0.49736	2.825000	0.97269	0.655000	0.94253	CGC		0.507	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		15	78	0	0	0	0	15	78				
ALK	238	broad.mit.edu	37	2	29456487	29456487	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:29456487C>A	ENST00000389048.3	-	14	3337	c.2431G>T	c.(2431-2433)Gtg>Ttg	p.V811L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	811					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V811M(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CACTCATGCACGCTTCTGTTC	0.488			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2431-2433)GTG>TTG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						209.0	181.0	191.0					2																	29456487		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29456487C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2431G>T	2.37:g.29456487C>A	ENSP00000373700:p.Val811Leu						p.V811L	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			14	3338	-	Acute lymphoblastic leukemia(172;0.155)		811			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2431G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363606	0.61513	.	.	ENSG00000171094	ENST00000389048	T	0.77229	-1.08	5.29	5.29	0.74685	.	0.000000	0.43260	D	0.000591	T	0.67933	0.2946	N	0.21194	0.64	0.80722	D	1	B	0.21688	0.059	B	0.33960	0.173	T	0.62105	-0.6924	9	.	.	.	.	13.2746	0.60180	0.0:0.9242:0.0:0.0758	.	811	Q9UM73	ALK_HUMAN	L	811	ENSP00000373700:V811L	.	V	-	1	0	ALK	29309991	0.994000	0.37717	0.993000	0.49108	0.936000	0.57629	3.066000	0.50002	2.478000	0.83669	0.561000	0.74099	GTG		0.488	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		35	61	1	0	1.27e-14	3.66e-14	35	61				
M1AP	130951	broad.mit.edu	37	2	74802648	74802648	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:74802648T>A	ENST00000290536.5	-	7	1107	c.991A>T	c.(991-993)Aga>Tga	p.R331*	M1AP_ENST00000409585.1_Nonsense_Mutation_p.R331*|M1AP_ENST00000358434.2_Nonsense_Mutation_p.R49*|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Nonsense_Mutation_p.R331*	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	331					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CTTGTAGGTCTGAGGATGAAC	0.483																																						uc002smy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(991-993)AGA>TGA		hypothetical protein LOC130951							131.0	122.0	125.0					2																	74802648		2203	4300	6503	SO:0001587	stop_gained	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74802648T>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.991A>T	2.37:g.74802648T>A	ENSP00000290536:p.Arg331*					C2orf65_uc010ysa.1_Nonsense_Mutation_p.R331*|C2orf65_uc002smz.2_Nonsense_Mutation_p.R331*|C2orf65_uc010ffp.2_Nonsense_Mutation_p.R49*|C2orf65_uc002smx.2_Nonsense_Mutation_p.R87*	p.R331*	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			7	1108	-			331					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Nonsense_Mutation	SNP	ENST00000290536.5	37	c.991A>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	T	37	6.326096	0.97476	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	.	.	.	4.96	4.96	0.65561	.	0.327598	0.31601	N	0.007368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3361	10.9374	0.47253	0.0:0.0:0.0:1.0	.	.	.	.	X	331;331;331;49	.	ENSP00000290536:R331X	R	-	1	2	C2orf65	74656156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.638000	0.46562	2.062000	0.61559	0.533000	0.62120	AGA		0.483	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		40	64	0	0	0	0	40	64				
LRRTM1	347730	broad.mit.edu	37	2	80529787	80529787	+	Silent	SNP	G	G	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:80529787G>T	ENST00000295057.3	-	2	1814	c.1158C>A	c.(1156-1158)ccC>ccA	p.P386P	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.P386P|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	386					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGCTGGCAGGGGGCCCCAGAT	0.726										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1156-1158)CCC>CCA		leucine rich repeat transmembrane neuronal 1							16.0	17.0	17.0					2																	80529787		2187	4285	6472	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529787G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1158C>A	2.37:g.80529787G>T		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.P386P	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1428	-			386			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1158C>A	CCDS1966.1																																																																																				0.726	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		9	20	1	0	9.7e-10	2.71e-09	9	20				
SH3RF3	344558	broad.mit.edu	37	2	110015122	110015122	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:110015122T>G	ENST00000309415.6	+	4	1022	c.1022T>G	c.(1021-1023)cTg>cGg	p.L341R		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	341							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AATGCCTCCCTGCCCTCTGAC	0.617																																						uc010ywt.1		NA																	0				ovary(1)	1						c.(1021-1023)CTG>CGG		SH3 domain containing ring finger 3							36.0	38.0	37.0					2																	110015122		2203	4300	6503	SO:0001583	missense	344558						zinc ion binding	g.chr2:110015122T>G	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.1022T>G	2.37:g.110015122T>G	ENSP00000309186:p.Leu341Arg						p.L341R	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			4	1022	+			341					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1022T>G		.	.	.	.	.	.	.	.	.	.	T	8.049	0.765635	0.15983	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.04706	3.57;3.57	4.4	4.4	0.53042	.	0.461581	0.21401	N	0.075153	T	0.04588	0.0125	.	.	.	0.28800	N	0.89884	P	0.47409	0.895	P	0.45037	0.467	T	0.28870	-1.0030	9	0.13853	T	0.58	-6.061	10.3104	0.43706	0.0:0.0816:0.0:0.9184	.	341	Q8TEJ3	SH3R3_HUMAN	R	341	ENSP00000414997:L341R;ENSP00000309186:L341R	ENSP00000309186:L341R	L	+	2	0	SH3RF3	109381554	0.925000	0.31364	0.674000	0.29902	0.310000	0.27922	1.869000	0.39519	1.976000	0.57569	0.459000	0.35465	CTG		0.617	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		3	7	0	0	0	0	3	7				
KIAA1715	80856	broad.mit.edu	37	2	176794733	176794733	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:176794733C>A	ENST00000272748.4	-	13	1496	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	KIAA1715_ENST00000544803.1_Missense_Mutation_p.D448Y|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	417					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGTTCAGGATCAGGAATAGAA	0.428																																						uc002ukc.1		NA																	0				ovary(2)|skin(1)	3						c.(1249-1251)GAT>TAT		Lunapark							145.0	136.0	139.0					2																	176794733		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176794733C>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1249G>T	2.37:g.176794733C>A	ENSP00000272748:p.Asp417Tyr					KIAA1715_uc010zer.1_Missense_Mutation_p.D448Y|KIAA1715_uc010fqw.1_Missense_Mutation_p.D483Y|KIAA1715_uc010zes.1_Missense_Mutation_p.D419Y|KIAA1715_uc002ukd.1_Missense_Mutation_p.D294Y|KIAA1715_uc010zet.1_RNA	p.D417Y	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		13	1442	-			417			Cytoplasmic (Potential).		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.1249G>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	c	7.591	0.670721	0.14776	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	5.78	-4.22	0.03800	.	0.998164	0.08115	N	0.995608	T	0.20333	0.0489	N	0.08118	0	0.18873	N	0.999988	P;P;P;B	0.48016	0.904;0.845;0.641;0.412	B;B;B;B	0.41036	0.346;0.275;0.188;0.188	T	0.36672	-0.9738	9	0.87932	D	0	-0.5329	14.1518	0.65389	0.0:0.7097:0.0:0.2903	.	419;448;414;417	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Y	417;419;294;448	.	ENSP00000272748:D417Y	D	-	1	0	KIAA1715	176502979	0.004000	0.15560	0.139000	0.22197	0.315000	0.28087	-0.703000	0.05063	-0.533000	0.06323	-0.340000	0.08031	GAT		0.428	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		24	61	1	0	1.64e-13	4.73e-13	24	61				
KIAA1715	80856	broad.mit.edu	37	2	176794780	176794780	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:176794780G>A	ENST00000272748.4	-	13	1449	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	KIAA1715_ENST00000544803.1_Missense_Mutation_p.S432L|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	401					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTCAATCACTGAGGCTTCCTC	0.438																																						uc002ukc.1		NA																	0				ovary(2)|skin(1)	3						c.(1201-1203)TCA>TTA		Lunapark							205.0	190.0	195.0					2																	176794780		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176794780G>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.1202C>T	2.37:g.176794780G>A	ENSP00000272748:p.Ser401Leu					KIAA1715_uc010zer.1_Missense_Mutation_p.S432L|KIAA1715_uc010fqw.1_Missense_Mutation_p.S467L|KIAA1715_uc010zes.1_Missense_Mutation_p.S403L|KIAA1715_uc002ukd.1_Missense_Mutation_p.S278L|KIAA1715_uc010zet.1_RNA	p.S401L	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		13	1395	-			401			Cytoplasmic (Potential).		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.1202C>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.277856	0.23307	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803	.	.	.	5.15	4.28	0.50868	.	0.950227	0.08793	N	0.892901	T	0.57154	0.2034	L	0.41236	1.265	0.58432	D	0.999996	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.49173	-0.8967	9	0.87932	D	0	-7.575	13.124	0.59342	0.0775:0.0:0.9225:0.0	.	403;432;398;401	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	L	401;403;278;432	.	ENSP00000272748:S401L	S	-	2	0	KIAA1715	176503026	0.995000	0.38212	0.798000	0.32154	0.402000	0.30811	4.149000	0.58091	1.325000	0.45301	0.598000	0.82781	TCA		0.438	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		35	59	0	0	0	0	35	59				
TMEFF2	23671	broad.mit.edu	37	2	193049123	193049123	+	Silent	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:193049123C>T	ENST00000272771.5	-	3	1553	c.369G>A	c.(367-369)caG>caA	p.Q123Q	TMEFF2_ENST00000392314.1_Silent_p.Q123Q|TMEFF2_ENST00000409056.3_Silent_p.Q123Q	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	123	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCTCACTCTGCTGTTTGCATG	0.473																																					Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NA																	0				lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(367-369)CAG>CAA		transmembrane protein with EGF-like and two							202.0	164.0	177.0					2																	193049123		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193049123C>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.369G>A	2.37:g.193049123C>T						TMEFF2_uc002utd.1_Silent_p.Q123Q	p.Q123Q	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		3	763	-			123			Kazal-like 1.|Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.369G>A	CCDS2314.1																																																																																				0.473	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		25	43	0	0	0	0	25	43				
DOCK10	55619	broad.mit.edu	37	2	225653885	225653885	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr2:225653885T>A	ENST00000258390.7	-	48	5381	c.5314A>T	c.(5314-5316)Atg>Ttg	p.M1772L	DOCK10_ENST00000409592.3_Missense_Mutation_p.M1766L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1772	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ATAGAGAACATGCCTTGGGAG	0.373																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(5314-5316)ATG>TTG		dedicator of cytokinesis 10							124.0	105.0	111.0					2																	225653885		1869	4106	5975	SO:0001583	missense	55619						GTP binding	g.chr2:225653885T>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5314A>T	2.37:g.225653885T>A	ENSP00000258390:p.Met1772Leu					DOCK10_uc002vob.2_Missense_Mutation_p.M1766L|DOCK10_uc002voa.2_Missense_Mutation_p.M428L|DOCK10_uc002voc.2_Missense_Mutation_p.M593L	p.M1772L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	48	5553	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1772			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5314A>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	7.811	0.715772	0.15306	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.16457	2.34;2.34	5.87	3.31	0.37934	.	0.217862	0.49305	N	0.000154	T	0.06508	0.0167	N	0.05414	-0.055	0.29765	N	0.835204	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.34576	-0.9823	10	0.06891	T	0.86	.	7.1543	0.25628	0.2131:0.0:0.1125:0.6745	.	1772;593;1766;434	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	L	1766;1772;277	ENSP00000386694:M1766L;ENSP00000258390:M1772L	ENSP00000258390:M1772L	M	-	1	0	DOCK10	225362129	0.997000	0.39634	0.999000	0.59377	0.994000	0.84299	2.285000	0.43487	1.014000	0.39417	0.533000	0.62120	ATG		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			5	19	0	0	0	0	5	19				
NAPB	63908	broad.mit.edu	37	20	23401954	23401954	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr20:23401954C>T	ENST00000377026.4	-	1	171	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.R29Q	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	29					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					AAACAGCCCTCGGAGGAAGGA	0.697																																						uc002wta.2		NA																	0				ovary(1)	1						c.(85-87)CGA>CAA		N-ethylmaleimide-sensitive factor attachment							47.0	33.0	37.0					20																	23401954		2183	4255	6438	SO:0001583	missense	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23401954C>T	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.86G>A	20.37:g.23401954C>T	ENSP00000366225:p.Arg29Gln					NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Missense_Mutation_p.R29Q|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Missense_Mutation_p.R29Q	p.R29Q	NM_022080	NP_071363	Q9H115	SNAB_HUMAN			1	203	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		29					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	ENST00000377026.4	37	c.86G>A	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244582	0.59103	.	.	ENSG00000125814	ENST00000377026;ENST00000432543	T;T	0.75938	-0.98;-0.98	4.72	4.72	0.59763	Tetratricopeptide-like helical (1);	0.276682	0.34777	N	0.003685	T	0.54919	0.1888	N	0.08118	0	0.80722	D	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.04013	0.001;0.001;0.0	T	0.51268	-0.8727	10	0.17832	T	0.49	-15.3436	16.4136	0.83727	0.0:1.0:0.0:0.0	.	29;29;29	B4DK44;B4DIV0;Q9H115	.;.;SNAB_HUMAN	Q	29	ENSP00000366225:R29Q;ENSP00000413600:R29Q	ENSP00000366225:R29Q	R	-	2	0	NAPB	23349954	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	4.395000	0.59678	2.446000	0.82766	0.563000	0.77884	CGA		0.697	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		4	7	0	0	0	0	4	7				
KRTAP26-1	388818	broad.mit.edu	37	21	31692054	31692054	+	Silent	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr21:31692054A>G	ENST00000360542.3	-	1	553	c.300T>C	c.(298-300)gcT>gcC	p.A100A		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	100						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGAAGAAAGAAGCAGGAAGAA	0.542																																						uc002ynw.2		NA																	0				ovary(1)	1						c.(298-300)GCT>GCC		keratin associated protein 26-1							117.0	117.0	117.0					21																	31692054		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692054A>G	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.300T>C	21.37:g.31692054A>G							p.A100A	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			1	554	-			100					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.300T>C	CCDS13588.1																																																																																				0.542	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		25	74	0	0	0	0	25	74				
MORC2	22880	broad.mit.edu	37	22	31330915	31330915	+	Silent	SNP	G	G	C	rs367691180		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:31330915G>C	ENST00000397641.3	-	19	2454	c.2046C>G	c.(2044-2046)gtC>gtG	p.V682V	MORC2_ENST00000469915.1_5'Flank|MORC2_ENST00000215862.4_Silent_p.V620V|MORC2-AS1_ENST00000441558.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	682						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ATGCAGTCTTGACGAGAGTGT	0.602																																						uc003aje.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1858-1860)GTC>GTG		MORC family CW-type zinc finger 2							93.0	93.0	93.0					22																	31330915		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31330915G>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2046C>G	22.37:g.31330915G>C							p.V620V	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			20	3224	-			682					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.1860C>G																																																																																					0.602	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		26	56	0	0	0	0	26	56				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1135-1137)AGA>AAA		CAP-binding protein complex interacting protein							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K	p.R379K	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			11	1351	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		7	36	0	0	0	0	7	36				
PLXNB2	23654	broad.mit.edu	37	22	50716358	50716358	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:50716358A>G	ENST00000449103.1	-	32	5112	c.4972T>C	c.(4972-4974)Ttc>Ctc	p.F1658L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1658L			O15031	PLXB2_HUMAN	plexin B2	1658					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGAAGTCGAAGAAGTACTTG	0.602																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4972-4974)TTC>CTC		plexin B2 precursor							58.0	68.0	65.0					22																	50716358		2172	4283	6455	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716358A>G		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4972T>C	22.37:g.50716358A>G	ENSP00000409171:p.Phe1658Leu					PLXNB2_uc003bkt.1_Missense_Mutation_p.F450L|PLXNB2_uc003bku.1_Missense_Mutation_p.F643L	p.F1658L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	32	5078	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1658			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4972T>C	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346251	0.82022	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964;ENST00000411680	T;T;T	0.20200	2.09;2.09;2.09	4.08	4.08	0.47627	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.64402	D	0.000001	T	0.53562	0.1804	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65792	-0.6082	10	0.87932	D	0	.	13.4923	0.61402	1.0:0.0:0.0:0.0	.	1658	O15031	PLXB2_HUMAN	L	1658;1658;288;210	ENSP00000409171:F1658L;ENSP00000352288:F1658L;ENSP00000400679:F210L	ENSP00000352288:F1658L	F	-	1	0	PLXNB2	49058485	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	6.885000	0.75606	1.827000	0.53221	0.402000	0.26972	TTC		0.602	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		29	45	0	0	0	0	29	45				
SHANK3	85358	broad.mit.edu	37	22	51117039	51117039	+	Silent	SNP	C	C	T	rs540912813		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:51117039C>T	ENST00000414786.2	+	4	593	c.366C>T	c.(364-366)taC>taT	p.Y122Y	SHANK3_ENST00000262795.3_Silent_p.Y122Y|SHANK3_ENST00000445220.2_Silent_p.Y122Y			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	122					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCATGGACTACGTCCAGCTGC	0.602													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19849	0.0		0.0	False		,,,				2504	0.0					uc003bne.1		NA																	0				central_nervous_system(1)	1						c.(364-366)TAC>TAT		SH3 and multiple ankyrin repeat domains 3							47.0	51.0	50.0					22																	51117039		2201	4299	6500	SO:0001819	synonymous_variant	85358							g.chr22:51117039C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.366C>T	22.37:g.51117039C>T							p.Y122Y	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	4	366	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	122					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.366C>T																																																																																					0.602	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		8	17	0	0	0	0	8	17				
OXSM	54995	broad.mit.edu	37	3	25832618	25832618	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:25832618C>A	ENST00000280701.3	+	2	206	c.107C>A	c.(106-108)cCa>cAa	p.P36Q	OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.P36Q	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	36					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGAACTGTGCCAATATCCAGA	0.423																																						uc003cdn.2		NA																	0				ovary(1)|breast(1)	2						c.(106-108)CCA>CAA		3-oxoacyl-ACP synthase, mitochondrial isoform 1							155.0	147.0	150.0					3																	25832618		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832618C>A	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.107C>A	3.37:g.25832618C>A	ENSP00000280701:p.Pro36Gln					NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.P36Q	p.P36Q	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			2	214	+			36						Missense_Mutation	SNP	ENST00000280701.3	37	c.107C>A	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	6.275	0.418930	0.11870	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	5.14	4.25	0.50352	.	2.973460	0.00974	N	0.003285	T	0.31295	0.0792	N	0.08118	0	0.18873	N	0.999987	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.003	T	0.28681	-1.0036	9	0.32370	T	0.25	-2.9516	13.331	0.60488	0.1579:0.8421:0.0:0.0	.	36;36	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	Q	36	.	ENSP00000280701:P36Q	P	+	2	0	OXSM	25807622	0.124000	0.22315	0.007000	0.13788	0.176000	0.22953	3.234000	0.51320	1.350000	0.45770	0.561000	0.74099	CCA		0.423	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		46	32	1	0	4.07e-11	1.15e-10	46	32				
CHDH	55349	broad.mit.edu	37	3	53854579	53854579	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:53854579G>A	ENST00000315251.6	-	6	1479	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	348					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GTGATAGGGCGGGTGCATGCC	0.557																																						uc003dgz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1042-1044)CGC>TGC		choline dehydrogenase precursor	Choline(DB00122)						165.0	155.0	159.0					3																	53854579		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53854579G>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1042C>T	3.37:g.53854579G>A	ENSP00000319851:p.Arg348Cys						p.R348C	NM_018397	NP_060867	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	6	1482	-		Hepatocellular(537;0.152)	348					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.1042C>T	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651659	0.47362	.	.	ENSG00000016391	ENST00000315251	T	0.44083	0.93	5.35	3.55	0.40652	.	0.872927	0.10199	N	0.703669	T	0.37237	0.0996	L	0.47190	1.495	0.22873	N	0.998621	P	0.50819	0.939	B	0.42653	0.394	T	0.22695	-1.0209	10	0.87932	D	0	-2.8276	7.0685	0.25165	0.0701:0.1178:0.676:0.1361	.	348	Q8NE62	CHDH_HUMAN	C	348	ENSP00000319851:R348C	ENSP00000319851:R348C	R	-	1	0	CHDH	53829619	0.997000	0.39634	0.414000	0.26521	0.812000	0.45895	3.262000	0.51538	0.753000	0.32945	0.655000	0.94253	CGC		0.557	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		18	72	0	0	0	0	18	72				
GRAMD1C	54762	broad.mit.edu	37	3	113664258	113664258	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:113664258T>G	ENST00000358160.4	+	18	2414	c.1922T>G	c.(1921-1923)cTc>cGc	p.L641R	ZDHHC23_ENST00000498275.1_5'Flank|GRAMD1C_ENST00000479212.1_3'UTR|RP11-255E6.6_ENST00000609657.1_RNA|ZDHHC23_ENST00000330212.3_5'Flank|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.L370R|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.L436R|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.L474R	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	641						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAGAGCTCACTCATTATGCTT	0.323																																						uc003eaq.3		NA																	0				ovary(2)|skin(1)	3						c.(1921-1923)CTC>CGC		GRAM domain containing 1C							63.0	67.0	66.0					3																	113664258		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113664258T>G		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1922T>G	3.37:g.113664258T>G	ENSP00000350881:p.Leu641Arg					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.L474R|GRAMD1C_uc003eas.2_Missense_Mutation_p.L436R|GRAMD1C_uc003eat.2_Missense_Mutation_p.L300R|ZDHHC23_uc003eau.2_5'Flank|ZDHHC23_uc003eav.2_5'Flank	p.L641R	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			18	1998	+			641					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.1922T>G	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230504	0.79688	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	T;T;T;T	0.76060	-0.14;-0.99;-0.6;-0.65	5.67	5.67	0.87782	.	0.176414	0.37437	N	0.002081	D	0.84620	0.5512	M	0.74881	2.28	0.49687	D	0.999818	D;P	0.69078	0.997;0.938	D;P	0.65987	0.94;0.621	D	0.86068	0.1536	10	0.59425	D	0.04	.	14.4916	0.67654	0.0:0.0:0.0:1.0	.	474;641	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	R	641;370;474;436	ENSP00000350881:L641R;ENSP00000399844:L370R;ENSP00000419132:L474R;ENSP00000408135:L436R	ENSP00000350881:L641R	L	+	2	0	GRAMD1C	115146948	1.000000	0.71417	0.958000	0.39756	0.979000	0.70002	4.748000	0.62148	2.148000	0.66965	0.482000	0.46254	CTC		0.323	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		24	50	0	0	0	0	24	50				
KALRN	8997	broad.mit.edu	37	3	124211627	124211627	+	Missense_Mutation	SNP	T	T	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:124211627T>A	ENST00000240874.3	+	32	4881	c.4724T>A	c.(4723-4725)aTt>aAt	p.I1575N	KALRN_ENST00000460856.1_Missense_Mutation_p.I1566N|KALRN_ENST00000360013.3_Missense_Mutation_p.I1575N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1575	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCAAGAACATTCGAGAAGTG	0.463																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4723-4725)ATT>AAT		kalirin, RhoGEF kinase isoform 1							119.0	123.0	122.0					3																	124211627		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124211627T>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4724T>A	3.37:g.124211627T>A	ENSP00000240874:p.Ile1575Asn					KALRN_uc010hrv.1_Missense_Mutation_p.I1566N|KALRN_uc003ehf.1_Missense_Mutation_p.I1575N|KALRN_uc011bjy.1_Missense_Mutation_p.I1566N	p.I1575N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			32	4851	+			1575			PH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4724T>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.499842|4.499842	0.85176|0.85176	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.19806	.|2.12;2.12;2.12	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54743|0.54743	0.1877|0.1877	M|M	0.90483|0.90483	3.12|3.12	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.995;1.0	T|T	0.64960|0.64960	-0.6284|-0.6284	5|10	.|0.87932	.|D	.|0	.|.	15.5807|15.5807	0.76432|0.76432	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1566;1575;1575	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	I|N	1544|1566;1575;1575	.|ENSP00000418611:I1566N;ENSP00000240874:I1575N;ENSP00000353109:I1575N	.|ENSP00000240874:I1575N	F|I	+|+	1|2	0|0	KALRN|KALRN	125694317|125694317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.863000|7.863000	0.87023|0.87023	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.463	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		24	46	0	0	0	0	24	46				
OSBPL11	114885	broad.mit.edu	37	3	125271261	125271261	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:125271261A>G	ENST00000296220.5	-	9	1707	c.1418T>C	c.(1417-1419)tTt>tCt	p.F473S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	473					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AGAACTGCTAAAAACACTGGA	0.453																																						uc003eic.2		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(1417-1419)TTT>TCT		oxysterol binding protein-like 11							99.0	89.0	93.0					3																	125271261		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125271261A>G	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1418T>C	3.37:g.125271261A>G	ENSP00000296220:p.Phe473Ser						p.F473S	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			9	2155	-			473					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1418T>C	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	A	4.536	0.099516	0.08681	.	.	ENSG00000144909	ENST00000296220	T	0.15603	2.41	4.54	-8.34	0.00988	.	1.363100	0.04494	N	0.380159	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30995	-0.9959	10	0.22109	T	0.4	-0.0582	6.3562	0.21402	0.1691:0.2603:0.4925:0.0781	.	473	Q9BXB4	OSB11_HUMAN	S	473	ENSP00000296220:F473S	ENSP00000296220:F473S	F	-	2	0	OSBPL11	126753951	0.000000	0.05858	0.000000	0.03702	0.923000	0.55619	-2.144000	0.01296	-1.545000	0.01719	0.482000	0.46254	TTT		0.453	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		15	27	0	0	0	0	15	27				
PLSCR1	5359	broad.mit.edu	37	3	146251261	146251261	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:146251261G>C	ENST00000342435.4	-	3	500	c.90C>G	c.(88-90)ttC>ttG	p.F30L	PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.F23L|PLSCR1_ENST00000448787.2_Missense_Mutation_p.S22C	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	30	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CTTTACCTTGGAATGCTGTCG	0.428																																						uc003evx.3		NA																	0				ovary(2)	2						c.(88-90)TTC>TTG		phospholipid scramblase 1							99.0	100.0	99.0					3																	146251261		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146251261G>C	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.90C>G	3.37:g.146251261G>C	ENSP00000345494:p.Phe30Leu					PLSCR1_uc003evy.3_Missense_Mutation_p.F23L|PLSCR1_uc011bnn.1_Missense_Mutation_p.S22C|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.F30L	p.F30L	NM_021105	NP_066928	O15162	PLS1_HUMAN			3	478	-			30			Cytoplasmic.		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.90C>G	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.592|8.592	0.884841|0.884841	0.17540|0.17540	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349|ENST00000448787;ENST00000486631	T;T;T;T|T;T	0.21031|0.23950	2.36;2.37;2.32;2.03|1.88;1.88	3.58|3.58	0.831|0.831	0.18860|0.18860	.|.	.|.	.|.	.|.	.|.	T|T	0.30230|0.30230	0.0758|0.0758	L|L	0.33485|0.33485	1.01|1.01	0.48975|0.48975	D|D	0.999734|0.999734	B;B|D	0.20671|0.64830	0.047;0.01|0.994	B;B|D	0.21151|0.62955	0.033;0.002|0.909	T|T	0.08229|0.08229	-1.0732|-1.0732	9|9	0.12430|0.66056	T|D	0.62|0.02	.|.	5.5233|5.5233	0.16945|0.16945	0.3628:0.0:0.6372:0.0|0.3628:0.0:0.6372:0.0	.|.	30;30|22	Q8WVK1;O15162|B4DTE8	.;PLS1_HUMAN|.	L|C	30;23;30;30|22	ENSP00000345494:F30L;ENSP00000417792:F23L;ENSP00000418103:F30L;ENSP00000420523:F30L|ENSP00000411675:S22C;ENSP00000418550:S22C	ENSP00000345494:F30L|ENSP00000411675:S22C	F|S	-|-	3|2	2|0	PLSCR1|PLSCR1	147733951|147733951	0.224000|0.224000	0.23674|0.23674	0.430000|0.430000	0.26722|0.26722	0.107000|0.107000	0.19398|0.19398	0.151000|0.151000	0.16283|0.16283	0.167000|0.167000	0.19631|0.19631	-0.142000|-0.142000	0.14014|0.14014	TTC|TCC		0.428	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		24	92	0	0	0	0	24	92				
AGTR1	185	broad.mit.edu	37	3	148458977	148458977	+	Missense_Mutation	SNP	T	T	C	rs150629733	byFrequency	TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:148458977T>C	ENST00000497524.1	+	2	546	c.155T>C	c.(154-156)gTc>gCc	p.V52A	AGTR1_ENST00000474935.1_Missense_Mutation_p.V52A|AGTR1_ENST00000349243.3_Missense_Mutation_p.V52A|AGTR1_ENST00000402260.1_Missense_Mutation_p.V52A|AGTR1_ENST00000404754.2_Missense_Mutation_p.V52A|AGTR1_ENST00000461609.1_Missense_Mutation_p.V52A|AGTR1_ENST00000542281.1_Missense_Mutation_p.V52A|AGTR1_ENST00000418473.2_Missense_Mutation_p.V52A|AGTR1_ENST00000475347.1_Missense_Mutation_p.V52A	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	52					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GTGGTGATAGTCATTTACTTT	0.378																																						uc003ewg.2		NA																	0					0						c.(154-156)GTC>GCC		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						138.0	133.0	135.0					3																	148458977		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148458977T>C	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.155T>C	3.37:g.148458977T>C	ENSP00000419422:p.Val52Ala					AGTR1_uc003ewh.2_Missense_Mutation_p.V52A|AGTR1_uc003ewi.2_Missense_Mutation_p.V52A|AGTR1_uc003ewj.2_Missense_Mutation_p.V52A|AGTR1_uc003ewk.2_Missense_Mutation_p.V52A	p.V52A	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	601	+			52			Helical; Name=1; (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.155T>C	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059815	0.76074	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.129622	0.51477	D	0.000096	T	0.65606	0.2707	M	0.77712	2.385	0.58432	D	0.999999	D	0.65815	0.995	D	0.74674	0.984	T	0.70443	-0.4870	10	0.87932	D	0	-22.9272	15.4489	0.75257	0.0:0.0:0.0:1.0	.	52	P30556	AGTR1_HUMAN	A	52	ENSP00000419422:V52A;ENSP00000273430:V52A;ENSP00000443186:V52A;ENSP00000398832:V52A;ENSP00000385612:V52A;ENSP00000419783:V52A;ENSP00000418084:V52A;ENSP00000418851:V52A;ENSP00000385641:V52A	ENSP00000273430:V52A	V	+	2	0	AGTR1	149941667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.864000	0.87037	2.224000	0.72417	0.533000	0.62120	GTC		0.378	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			20	73	0	0	0	0	20	73				
PHC3	80012	broad.mit.edu	37	3	169824653	169824653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:169824653G>T	ENST00000494943.1	-	12	2467	c.2399C>A	c.(2398-2400)tCa>tAa	p.S800*	PHC3_ENST00000495893.2_Nonsense_Mutation_p.S812*|PHC3_ENST00000467570.1_Nonsense_Mutation_p.S759*			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	800					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAATCGTTTTGACCGCAAAAA	0.373																																						uc010hws.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2398-2400)TCA>TAA		polyhomeotic like 3							105.0	98.0	100.0					3																	169824653		1861	4088	5949	SO:0001587	stop_gained	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169824653G>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2399C>A	3.37:g.169824653G>T	ENSP00000420271:p.Ser800*					PHC3_uc003fgl.2_Nonsense_Mutation_p.S812*|PHC3_uc011bpq.1_Nonsense_Mutation_p.S759*	p.S800*	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		12	2463	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		800			FCS-type.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Nonsense_Mutation	SNP	ENST00000494943.1	37	c.2399C>A		.	.	.	.	.	.	.	.	.	.	G	39	7.819664	0.98507	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	.	.	.	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7395	20.3812	0.98933	0.0:0.0:1.0:0.0	.	.	.	.	X	800;812;759	.	ENSP00000419089:S759X	S	-	2	0	PHC3	171307347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.195000	0.94971	2.821000	0.97095	0.650000	0.86243	TCA		0.373	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		13	124	1	0	9.31e-06	2.49e-05	13	124				
PIK3CA	5290	broad.mit.edu	37	3	178921501	178921501	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:178921501G>C	ENST00000263967.3	+	5	1140	c.983G>C	c.(982-984)tGg>tCg	p.W328S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	328					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAATCCCTTTGGGTTATAAAT	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(982-984)TGG>TCG		phosphoinositide-3-kinase, catalytic, alpha							92.0	91.0	91.0					3																	178921501		1840	4078	5918	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178921501G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.983G>C	3.37:g.178921501G>C	ENSP00000263967:p.Trp328Ser	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.W328S	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		5	1140	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		328					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.983G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486672	0.84854	.	.	ENSG00000121879	ENST00000263967	T	0.76060	-0.99	5.4	5.4	0.78164	Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	L	0.34521	1.04	0.80722	D	1	D	0.61697	0.99	P	0.54140	0.743	T	0.77422	-0.2594	10	0.51188	T	0.08	-9.8126	19.5398	0.95270	0.0:0.0:1.0:0.0	.	328	P42336	PK3CA_HUMAN	S	328	ENSP00000263967:W328S	ENSP00000263967:W328S	W	+	2	0	PIK3CA	180404195	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.358000	0.97109	2.694000	0.91930	0.467000	0.42956	TGG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			28	328	0	0	0	0	28	328				
HRG	3273	broad.mit.edu	37	3	186395211	186395211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr3:186395211G>T	ENST00000232003.4	+	7	1197	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	373	His/Pro-rich (HRR).|Necessary for endothelial cell focal adhesions and anti-angiogenic activities.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ccatcctcatgaacatgatac	0.517																																						uc003fqq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1117-1119)GAA>TAA		histidine-rich glycoprotein precursor							187.0	130.0	149.0					3																	186395211		2202	4300	6502	SO:0001587	stop_gained	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395211G>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1117G>T	3.37:g.186395211G>T	ENSP00000232003:p.Glu373*						p.E373*	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1140	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		373			His/Pro-rich (HRR).		B9EK35|D3DNU7	Nonsense_Mutation	SNP	ENST00000232003.4	37	c.1117G>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678869	0.68042	.	.	ENSG00000113905	ENST00000232003	.	.	.	4.28	3.39	0.38822	.	0.124687	0.36555	N	0.002537	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-8.7103	8.6534	0.34049	0.1084:0.0:0.8916:0.0	.	.	.	.	X	373	.	ENSP00000232003:E373X	E	+	1	0	HRG	187877905	0.621000	0.27077	0.013000	0.15412	0.003000	0.03518	1.641000	0.37197	1.126000	0.42016	0.455000	0.32223	GAA		0.517	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		29	10	1	0	1.77e-15	5.16e-15	29	10				
THAP6	152815	broad.mit.edu	37	4	76442145	76442145	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr4:76442145C>T	ENST00000311638.3	+	3	312	c.244C>T	c.(244-246)Cct>Tct	p.P82S	THAP6_ENST00000507557.1_Missense_Mutation_p.P41S|THAP6_ENST00000380837.3_Missense_Mutation_p.P82S|RCHY1_ENST00000324439.5_5'Flank|RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000513257.1_5'Flank|THAP6_ENST00000502620.1_Missense_Mutation_p.P41S|RCHY1_ENST00000512706.1_5'Flank|RCHY1_ENST00000380840.2_5'Flank|RCHY1_ENST00000451788.1_5'Flank|THAP6_ENST00000504190.1_Missense_Mutation_p.P41S|THAP6_ENST00000507885.1_Missense_Mutation_p.P41S|THAP6_ENST00000508105.1_Missense_Mutation_p.P41S|THAP6_ENST00000507556.1_Missense_Mutation_p.P82S|THAP6_ENST00000514480.1_Missense_Mutation_p.P82S	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	82						microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TAAACTGAAACCTGGAGTCAT	0.363																																						uc003him.2		NA																	0					0						c.(244-246)CCT>TCT		THAP domain containing 6							103.0	110.0	107.0					4																	76442145		2203	4300	6503	SO:0001583	missense	152815					microtubule cytoskeleton	DNA binding|metal ion binding	g.chr4:76442145C>T	BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"""THAP (C2CH-type zinc finger) domain containing"""	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.244C>T	4.37:g.76442145C>T	ENSP00000309007:p.Pro82Ser					RCHY1_uc003hij.2_5'Flank|RCHY1_uc003hik.2_5'Flank|RCHY1_uc003hil.2_5'Flank|RCHY1_uc010iip.2_5'Flank|RCHY1_uc010iiq.2_5'Flank|RCHY1_uc010iir.2_5'Flank|THAP6_uc010iis.1_Missense_Mutation_p.P41S|THAP6_uc003hin.2_Missense_Mutation_p.P82S|THAP6_uc011cbm.1_Missense_Mutation_p.P82S|THAP6_uc010iiu.1_RNA|THAP6_uc003hio.1_RNA|THAP6_uc010iiv.2_Missense_Mutation_p.P82S	p.P82S	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	341	+			82			THAP-type.		B4E146|Q5HYJ7|Q5JPC6	Missense_Mutation	SNP	ENST00000311638.3	37	c.244C>T	CCDS3568.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625098	0.66901	.	.	ENSG00000174796	ENST00000507557;ENST00000311638;ENST00000380837;ENST00000508105;ENST00000504190;ENST00000507556;ENST00000507885;ENST00000502620;ENST00000514480	D;D;D;D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	5.09	3.32	0.38043	Zinc finger, C2CH-type (4);	0.104805	0.42682	D	0.000665	D	0.93897	0.8047	L	0.44542	1.39	0.24457	N	0.994453	P;P;B;P	0.39352	0.626;0.474;0.069;0.669	B;B;B;B	0.42214	0.259;0.38;0.037;0.192	D	0.87188	0.2232	9	.	.	.	-9.0498	12.5187	0.56046	0.0:0.68:0.32:0.0	.	82;41;82;82	B4E146;D6REL7;Q8TBB0-2;Q8TBB0	.;.;.;THAP6_HUMAN	S	41;82;82;41;41;82;41;41;82	ENSP00000424949:P41S;ENSP00000309007:P82S;ENSP00000370217:P82S;ENSP00000426760:P41S;ENSP00000426581:P41S;ENSP00000427651:P82S;ENSP00000424255:P41S;ENSP00000426698:P41S;ENSP00000423720:P82S	.	P	+	1	0	THAP6	76661169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.753000	0.38359	0.775000	0.33450	0.561000	0.74099	CCT		0.363	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		5	33	0	0	0	0	5	33				
C4orf29	80167	broad.mit.edu	37	4	128951815	128951815	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr4:128951815A>T	ENST00000444616.1	+	11	1476	c.1229A>T	c.(1228-1230)cAa>cTa	p.Q410L	C4orf29_ENST00000398965.1_Missense_Mutation_p.Q410L|C4orf29_ENST00000388795.5_Missense_Mutation_p.Q362L			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	410						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTTTTTAAACAAGGACTCTTC	0.353																																						uc003ifr.2		NA																	0				ovary(1)	1						c.(1228-1230)CAA>CTA		hypothetical protein LOC80167 precursor							79.0	78.0	79.0					4																	128951815		1842	4086	5928	SO:0001583	missense	80167					extracellular region		g.chr4:128951815A>T	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.1229A>T	4.37:g.128951815A>T	ENSP00000397229:p.Gln410Leu					C4orf29_uc003ifs.2_Missense_Mutation_p.Q338L|C4orf29_uc003ift.2_Missense_Mutation_p.Q275L|C4orf29_uc003ifu.2_Missense_Mutation_p.Q275L|C4orf29_uc010inz.2_Missense_Mutation_p.Q241L|C4orf29_uc003ifv.2_Missense_Mutation_p.Q275L	p.Q410L	NM_001039717	NP_001034806	Q0P651	CD029_HUMAN			12	1547	+			410					A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37	c.1229A>T		.	.	.	.	.	.	.	.	.	.	A	23.6	4.429739	0.83776	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.69248	2.105	0.80722	D	1	P;D	0.62365	0.531;0.991	B;D	0.64687	0.381;0.928	T	0.76953	-0.2768	9	0.49607	T	0.09	-22.2451	14.7261	0.69346	1.0:0.0:0.0:0.0	.	362;410	B7WP89;Q0P651	.;CD029_HUMAN	L	410;241;410;410;362;328;317	.	ENSP00000373447:Q362L	Q	+	2	0	C4orf29	129171265	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.665000	0.91144	1.898000	0.54952	0.533000	0.62120	CAA		0.353	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		25	36	0	0	0	0	25	36				
CDKN2AIP	55602	broad.mit.edu	37	4	184368144	184368144	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr4:184368144A>G	ENST00000504169.1	+	3	1514	c.1307A>G	c.(1306-1308)aAg>aGg	p.K436R	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	436					negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTGAAACAGAAGCAACCTTTT	0.408																																						uc003ivp.1		NA																	0					0						c.(1306-1308)AAG>AGG		CDKN2A interacting protein							98.0	98.0	98.0					4																	184368144		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184368144A>G	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1307A>G	4.37:g.184368144A>G	ENSP00000427108:p.Lys436Arg					CDKN2AIP_uc003ivq.1_Missense_Mutation_p.K181R	p.K436R	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	1469	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	436					Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.1307A>G	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	A	7.346	0.621977	0.14193	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.49	5.49	0.81192	.	0.073145	0.56097	D	0.000028	T	0.21841	0.0526	N	0.11845	0.185	0.80722	D	1	B	0.29188	0.236	B	0.20767	0.031	T	0.15925	-1.0420	9	0.10111	T	0.7	-13.0651	5.4194	0.16392	0.7995:0.0:0.2005:0.0	.	436	Q9NXV6	CARF_HUMAN	R	436	.	ENSP00000427108:K436R	K	+	2	0	CDKN2AIP	184605138	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	5.151000	0.64875	2.311000	0.77944	0.533000	0.62120	AAG		0.408	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		24	38	0	0	0	0	24	38				
FAT1	2195	broad.mit.edu	37	4	187540589	187540589	+	Missense_Mutation	SNP	T	T	C	rs139480903		TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr4:187540589T>C	ENST00000441802.2	-	10	7360	c.7151A>G	c.(7150-7152)aAt>aGt	p.N2384S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2384	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGATTATCATTGAGGTCGGT	0.502										HNSCC(5;0.00058)			T|||	1	0.000199681	0.0008	0.0	5008	,	,		21742	0.0		0.0	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7150-7152)AAT>AGT		FAT tumor suppressor 1 precursor							56.0	57.0	56.0					4																	187540589		2069	4208	6277	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540589T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7151A>G	4.37:g.187540589T>C	ENSP00000406229:p.Asn2384Ser	HNSCC(5;0.00058)					p.N2384S	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7339	-			2384			Extracellular (Potential).|Cadherin 21.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7151A>G	CCDS47177.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	19.51	3.841023	0.71488	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.77489	-1.1	5.04	5.04	0.67666	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87752	0.6256	H	0.98542	4.26	0.80722	D	1	P	0.42078	0.77	B	0.42319	0.383	D	0.91975	0.5590	10	0.87932	D	0	.	15.234	0.73413	0.0:0.0:0.0:1.0	.	2384	Q14517	FAT1_HUMAN	S	2384;2386	ENSP00000406229:N2384S	ENSP00000260147:N2386S	N	-	2	0	FAT1	187777583	1.000000	0.71417	0.992000	0.48379	0.810000	0.45777	7.825000	0.86693	2.247000	0.74100	0.528000	0.53228	AAT		0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		18	39	0	0	0	0	18	39				
SLC6A18	348932	broad.mit.edu	37	5	1244337	1244337	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:1244337T>C	ENST00000324642.3	+	10	1468	c.1345T>C	c.(1345-1347)Tgc>Cgc	p.C449R	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	449					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGGGCTGGTCTGCCTGGTCTG	0.627																																						uc003jby.1		NA																	0				ovary(1)	1						c.(1345-1347)TGC>CGC		solute carrier family 6, member 18							84.0	81.0	82.0					5																	1244337		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244337T>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1345T>C	5.37:g.1244337T>C	ENSP00000323549:p.Cys449Arg						p.C449R	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1468	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		449			Helical; Name=9; (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.1345T>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420963	0.62622	.	.	ENSG00000164363	ENST00000324642	T	0.76316	-1.01	4.81	4.81	0.61882	.	0.114845	0.64402	D	0.000012	D	0.90786	0.7107	H	0.96175	3.78	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.92946	0.6376	10	0.87932	D	0	.	11.8649	0.52488	0.0:0.0:0.0:1.0	.	449	Q96N87	S6A18_HUMAN	R	449	ENSP00000323549:C449R	ENSP00000323549:C449R	C	+	1	0	SLC6A18	1297337	1.000000	0.71417	0.977000	0.42913	0.550000	0.35303	5.211000	0.65219	1.806000	0.52798	0.459000	0.35465	TGC		0.627	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		26	37	0	0	0	0	26	37				
C5orf34	375444	broad.mit.edu	37	5	43506112	43506112	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:43506112G>C	ENST00000306862.2	-	4	1045	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	224										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GGCGAAGGCAGCTCTTCCCTC	0.423																																						uc003jnz.1		NA																	0				breast(1)	1						c.(670-672)CTG>GTG		hypothetical protein LOC375444							139.0	134.0	136.0					5																	43506112		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43506112G>C	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.670C>G	5.37:g.43506112G>C	ENSP00000303490:p.Leu224Val					C5orf34_uc011cpx.1_Missense_Mutation_p.L110V	p.L224V	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			5	987	-	Lung NSC(6;2.07e-05)		224						Missense_Mutation	SNP	ENST00000306862.2	37	c.670C>G	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.611543	0.00120	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.41400	1.0	5.14	2.27	0.28462	.	0.993770	0.08168	N	0.987469	T	0.25457	0.0619	L	0.28192	0.835	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.30937	-0.9961	10	0.11182	T	0.66	2.5637	4.2812	0.10833	0.0946:0.4377:0.3424:0.1253	.	224	Q96MH7	CE034_HUMAN	V	224;110	ENSP00000303490:L224V	ENSP00000303490:L224V	L	-	1	2	C5orf34	43541869	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.571000	0.23669	0.566000	0.29273	0.591000	0.81541	CTG		0.423	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		50	88	0	0	0	0	50	88				
ZNF366	167465	broad.mit.edu	37	5	71756463	71756463	+	Silent	SNP	C	C	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:71756463C>G	ENST00000318442.5	-	2	1351	c.861G>C	c.(859-861)ggG>ggC	p.G287G		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	287					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGAAGAGCTTCCCGCAGTGCG	0.627																																						uc003kce.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(859-861)GGG>GGC		zinc finger protein 366							117.0	105.0	109.0					5																	71756463		2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756463C>G	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.861G>C	5.37:g.71756463C>G							p.G287G	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1047	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	287			C2H2-type 2.		Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.861G>C	CCDS4015.1																																																																																				0.627	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			23	50	0	0	0	0	23	50				
PCDHA10	56139	broad.mit.edu	37	5	140237238	140237238	+	Silent	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:140237238C>T	ENST00000307360.5	+	1	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGTGAGCGCGCGCGATG	0.682																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1603-1605)AGC>AGT		protocadherin alpha 10 isoform 1 precursor							55.0	60.0	58.0					5																	140237238		2196	4265	6461	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237238C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1605C>T	5.37:g.140237238C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.S535S	p.S535S	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1605	+			535			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1605C>T	CCDS54921.1																																																																																				0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		54	39	0	0	0	0	54	39				
PCDHB4	56131	broad.mit.edu	37	5	140502789	140502789	+	Silent	SNP	A	A	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr5:140502789A>T	ENST00000194152.1	+	1	1209	c.1209A>T	c.(1207-1209)gtA>gtT	p.V403V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGGTAACAGAGAGAC	0.448																																						uc003lip.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1207-1209)GTA>GTT		protocadherin beta 4 precursor							70.0	68.0	68.0					5																	140502789		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502789A>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1209A>T	5.37:g.140502789A>T							p.V403V	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1209	+			403			Cadherin 4.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1209A>T	CCDS4246.1																																																																																				0.448	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		32	19	0	0	0	0	32	19				
HSPA1A	3303	broad.mit.edu	37	6	31785354	31785354	+	Silent	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr6:31785354C>T	ENST00000375651.5	+	1	2064	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	HSPA1L_ENST00000375654.4_5'Flank|HSPA1A_ENST00000458062.2_Silent_p.I516I|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000608703.1_Silent_p.I442I	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	607					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						ACCCCATCATCAGCGGACTGT	0.632																																						uc003nxj.2		NA																	0				ovary(1)	1						c.(1819-1821)ATC>ATT		heat shock 70kDa protein 1A							52.0	53.0	53.0					6																	31785354		1700	3499	5199	SO:0001819	synonymous_variant	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31785354C>T	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1821C>T	6.37:g.31785354C>T						HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Silent_p.I370I|HSPA1A_uc003nxi.1_Silent_p.I442I|uc011dok.1_RNA	p.I607I	NM_005345	NP_005336	P08107	HSP71_HUMAN			1	2064	+			607					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375651.5	37	c.1821C>T	CCDS34414.1																																																																																				0.632	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			30	82	0	0	0	0	30	82				
RTN4IP1	84816	broad.mit.edu	37	6	107031256	107031256	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr6:107031256T>C	ENST00000369063.3	-	8	1495	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_Silent_p.S220S	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	344						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CCACTGGCCATGAAAAATGCC	0.413																																						uc003prj.2		NA																	0					0						c.(1030-1032)ATG>GTG		reticulon 4 interacting protein 1 precursor							76.0	66.0	69.0					6																	107031256		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107031256T>C	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1030A>G	6.37:g.107031256T>C	ENSP00000358059:p.Met344Val					RTN4IP1_uc010kdd.2_Silent_p.S220S|RTN4IP1_uc003prk.2_Missense_Mutation_p.M244V	p.M344V	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	8	1507	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	344					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.1030A>G	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	T	4.180	0.031982	0.08101	.	.	ENSG00000130347	ENST00000369063	T	0.21191	2.02	5.78	5.78	0.91487	.	0.128569	0.64402	D	0.000001	T	0.07548	0.0190	L	0.35288	1.05	0.80722	D	1	B	0.21147	0.052	B	0.17433	0.018	T	0.14924	-1.0455	10	0.15066	T	0.55	-27.668	14.6857	0.69047	0.0:0.0:0.0:1.0	.	344	Q8WWV3	RT4I1_HUMAN	V	344	ENSP00000358059:M344V	ENSP00000358059:M344V	M	-	1	0	RTN4IP1	107137949	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.599000	0.54045	2.200000	0.70718	0.460000	0.39030	ATG		0.413	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			20	28	0	0	0	0	20	28				
MACC1	346389	broad.mit.edu	37	7	20198105	20198105	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:20198105C>T	ENST00000400331.5	-	5	2187	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	MACC1_ENST00000589011.1_Missense_Mutation_p.D627N|MACC1_ENST00000332878.4_Missense_Mutation_p.D627N	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	627					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						AAGACACTATCTGACATAAAC	0.353																																						uc003sus.3		NA																	0				ovary(2)|skin(1)	3						c.(1879-1881)GAT>AAT		putative binding protein 7a5							123.0	123.0	123.0					7																	20198105		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.chr7:20198105C>T		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.1879G>A	7.37:g.20198105C>T	ENSP00000383185:p.Asp627Asn					MACC1_uc010kug.2_Missense_Mutation_p.D627N	p.D627N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	2188	-			627					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1879G>A	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	8.276	0.814393	0.16607	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.11821	2.74;2.74	5.75	3.9	0.45041	.	0.234639	0.49305	N	0.000141	T	0.15739	0.0379	M	0.63428	1.95	0.47065	D	0.999306	B	0.14012	0.009	B	0.14023	0.01	T	0.02444	-1.1158	10	0.40728	T	0.16	-7.6631	10.8565	0.46802	0.0:0.7702:0.1595:0.0703	.	627	Q6ZN28	MACC1_HUMAN	N	627	ENSP00000383185:D627N;ENSP00000328410:D627N	ENSP00000328410:D627N	D	-	1	0	MACC1	20164630	0.244000	0.23889	0.228000	0.23943	0.010000	0.07245	2.147000	0.42226	0.691000	0.31592	0.655000	0.94253	GAT		0.353	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		33	76	0	0	0	0	33	76				
ZNF107	51427	broad.mit.edu	37	7	64166764	64166764	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:64166764A>G	ENST00000395391.1	+	4	1457	c.82A>G	c.(82-84)Aaa>Gaa	p.K28E	ZNF107_ENST00000423627.1_Missense_Mutation_p.K28E|ZNF107_ENST00000344930.3_Missense_Mutation_p.K28E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	28					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)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTCTTTCCAGAAAGTGACACT	0.363																																						uc003ttd.2		NA																	0				ovary(1)	1						c.(82-84)AAA>GAA		zinc finger protein 107							63.0	63.0	63.0					7																	64166764		2203	4300	6503	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166764A>G	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.82A>G	7.37:g.64166764A>G	ENSP00000378789:p.Lys28Glu					ZNF107_uc003tte.2_Missense_Mutation_p.K28E	p.K28E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	868	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	28						Missense_Mutation	SNP	ENST00000395391.1	37	c.82A>G	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	6.999	0.554400	0.13374	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.09350	4.4;2.99;2.99;2.99	1.2	-0.0533	0.13818	.	.	.	.	.	T	0.11024	0.0269	M	0.73598	2.24	0.09310	N	1	B	0.24043	0.096	B	0.24974	0.057	T	0.39375	-0.9617	9	0.16896	T	0.51	.	3.6406	0.08165	0.4527:0.0:0.5473:0.0	.	28	Q9UII5	ZN107_HUMAN	E	28	ENSP00000353234:K28E;ENSP00000343443:K28E;ENSP00000400037:K28E;ENSP00000378789:K28E	ENSP00000343443:K28E	K	+	1	0	ZNF107	63804199	0.000000	0.05858	0.021000	0.16686	0.310000	0.27922	-1.096000	0.03353	0.478000	0.27488	0.254000	0.18369	AAA		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		26	25	0	0	0	0	26	25				
SMURF1	57154	broad.mit.edu	37	7	98638089	98638089	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:98638089A>G	ENST00000361125.1	-	14	1859	c.1540T>C	c.(1540-1542)Ttc>Ctc	p.F514L	SMURF1_ENST00000361368.2_Missense_Mutation_p.F488L|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	514	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGCTTGTAGAAGGGCACTGTG	0.542											OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003upu.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1540-1542)TTC>CTC		Smad ubiquitination regulatory factor 1 isoform							88.0	84.0	86.0					7																	98638089		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98638089A>G	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1540T>C	7.37:g.98638089A>G	ENSP00000354621:p.Phe514Leu		OREG0018189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1337	SMURF1_uc003upv.1_Missense_Mutation_p.F488L|SMURF1_uc003upt.2_Missense_Mutation_p.F488L	p.F514L	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		14	1860	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		514			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1540T>C	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991083	0.93106	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.61980	0.06;0.06	5.6	5.6	0.85130	HECT (4);	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	L	0.45581	1.43	0.80722	D	1	D;D;P	0.56746	0.972;0.977;0.949	P;P;P	0.62649	0.846;0.905;0.874	T	0.68413	-0.5415	10	0.31617	T	0.26	.	16.0858	0.81049	1.0:0.0:0.0:0.0	.	488;514;488	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	L	488;514	ENSP00000355326:F488L;ENSP00000354621:F514L	ENSP00000354621:F514L	F	-	1	0	SMURF1	98476025	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.287000	0.95975	2.264000	0.75181	0.533000	0.62120	TTC		0.542	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		66	55	0	0	0	0	66	55				
SMURF1	57154	broad.mit.edu	37	7	98645385	98645385	+	Silent	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:98645385G>A	ENST00000361125.1	-	11	1471	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	SMURF1_ENST00000361368.2_Silent_p.V358V|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	384					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CGTGTCTGAGGACTTTCAGCT	0.567																																						uc003upu.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1150-1152)GTC>GTT		Smad ubiquitination regulatory factor 1 isoform							142.0	138.0	139.0					7																	98645385		2203	4300	6503	SO:0001819	synonymous_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98645385G>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1152C>T	7.37:g.98645385G>A						SMURF1_uc003upv.1_Silent_p.V358V|SMURF1_uc003upt.2_Silent_p.V358V	p.V384V	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		11	1472	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		384					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	c.1152C>T	CCDS34690.1																																																																																				0.567	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		123	97	0	0	0	0	123	97				
SLC4A2	6522	broad.mit.edu	37	7	150771897	150771897	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:150771897A>G	ENST00000485713.1	+	19	4056	c.3016A>G	c.(3016-3018)Att>Gtt	p.I1006V	SLC4A2_ENST00000310317.5_Missense_Mutation_p.I924V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.I1006V|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000392826.2_Missense_Mutation_p.I997V|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.I992V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1006	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGGTCTTCATTCTCATCTT	0.597																																						uc003wit.3		NA																	0					0						c.(3016-3018)ATT>GTT		solute carrier family 4, anion exchanger, member							56.0	60.0	58.0					7																	150771897		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771897A>G		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3016A>G	7.37:g.150771897A>G	ENSP00000419412:p.Ile1006Val					SLC4A2_uc011kve.1_Missense_Mutation_p.I997V|SLC4A2_uc003wiu.3_Missense_Mutation_p.I992V|SLC4A2_uc003wiv.3_Missense_Mutation_p.I200V|uc011kvf.1_3'UTR	p.I1006V	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	19	3272	+			1006			Membrane (anion exchange).|Helical; (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.3016A>G	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.747941	0.89663	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.29	5.29	0.74685	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	M	0.84219	2.685	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.987;0.998;0.999	D	0.92541	0.6042	10	0.87932	D	0	.	14.5657	0.68173	1.0:0.0:0.0:0.0	.	997;992;1006	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	V	1006;1006;924;997;992	ENSP00000419412:I1006V;ENSP00000405600:I1006V;ENSP00000311402:I924V;ENSP00000376571:I997V;ENSP00000419164:I992V	ENSP00000311402:I924V	I	+	1	0	SLC4A2	150402830	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.139000	0.94554	2.225000	0.72522	0.459000	0.35465	ATT		0.597	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		10	15	0	0	0	0	10	15				
KMT2C	58508	broad.mit.edu	37	7	151945031	151945031	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr7:151945031T>C	ENST00000262189.6	-	14	2706	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	KMT2C_ENST00000355193.2_Missense_Mutation_p.I830V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	830					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTCTTAGTAATAGCTGGTTTA	0.383																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2488-2490)ATT>GTT		myeloid/lymphoid or mixed-lineage leukemia 3							219.0	190.0	200.0					7																	151945031		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945031T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2488A>G	7.37:g.151945031T>C	ENSP00000262189:p.Ile830Val						p.I830V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2707	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	830					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2488A>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.62|17.62	3.435425|3.435425	0.62955|0.62955	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.85556|.	-1.99;-2.0|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.46758|.	D|.	0.000265|.	T|T	0.57829|0.57829	0.2080|0.2080	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.72625|.	0.978|.	T|T	0.54410|0.54410	-0.8298|-0.8298	10|5	0.56958|.	D|.	0.05|.	.|.	15.9124|15.9124	0.79482|0.79482	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	830|.	Q8NEZ4|.	MLL3_HUMAN|.	V|C	830|25	ENSP00000262189:I830V;ENSP00000347325:I830V|.	ENSP00000262189:I830V|.	I|Y	-|-	1|2	0|0	MLL3|MLL3	151575964|151575964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.694000|7.694000	0.84235|0.84235	2.148000|2.148000	0.66965|0.66965	0.528000|0.528000	0.53228|0.53228	ATT|TAT		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	167	0	0	0	0	8	167				
CCNE2	9134	broad.mit.edu	37	8	95897779	95897779	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr8:95897779T>C	ENST00000520509.1	-	8	860	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.Y203C|CCNE2_ENST00000396133.3_Missense_Mutation_p.Y203C|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	203					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTTAGGAGCATAGATTTCCTT	0.318																																						uc003yhc.2		NA																	0					0						c.(607-609)TAT>TGT		cyclin E2							53.0	55.0	55.0					8																	95897779		2203	4295	6498	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95897779T>C	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.608A>G	8.37:g.95897779T>C	ENSP00000429089:p.Tyr203Cys					CCNE2_uc003yhd.2_Missense_Mutation_p.Y203C	p.Y203C	NM_057749	NP_477097	O96020	CCNE2_HUMAN			8	717	-	Breast(36;8.75e-07)		203					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.608A>G	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.6|23.6	4.436467|4.436467	0.83885|0.83885	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000524224|ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	.|T;T;T	.|0.11930	.|2.73;2.73;2.73	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Cyclin, N-terminal (1);Cyclin-like (3);	.|0.052047	.|0.85682	.|D	.|0.000000	T|T	0.38108|0.38108	0.1028|0.1028	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.85130	.|0.997;0.927	T|T	0.11542|0.11542	-1.0583|-1.0583	5|10	.|0.44086	.|T	.|0.13	.|.	15.5112|15.5112	0.75782|0.75782	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|203;203	.|Q8WUE3;O96020	.|.;CCNE2_HUMAN	V|C	67|203;203;95;203	.|ENSP00000429089:Y203C;ENSP00000309181:Y203C;ENSP00000379437:Y203C	.|ENSP00000309181:Y203C	M|Y	-|-	1|2	0|0	CCNE2|CCNE2	95966955|95966955	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	6.228000|6.228000	0.72288|0.72288	2.046000|2.046000	0.60703|0.60703	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.318	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		26	31	0	0	0	0	26	31				
TRHR	7201	broad.mit.edu	37	8	110100298	110100298	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr8:110100298A>T	ENST00000518632.1	+	2	908	c.557A>T	c.(556-558)aAt>aTt	p.N186I	TRHR_ENST00000311762.2_Missense_Mutation_p.N186I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	186					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)			ATCTCCAGGAATTACTACTCA	0.403																																						uc003ymz.3		NA																	0				skin(2)|lung(1)	3						c.(556-558)AAT>ATT		thyrotropin-releasing hormone receptor							115.0	108.0	110.0					8																	110100298		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100298A>T		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.557A>T	8.37:g.110100298A>T	ENSP00000430711:p.Asn186Ile						p.N186I	NM_003301	NP_003292	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		1	573	+			186			Extracellular (Potential).		Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.557A>T	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379715	0.42207	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.36699	1.24;1.24	6.17	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.259813	0.52532	D	0.000070	T	0.38904	0.1058	M	0.69523	2.12	0.29004	N	0.887311	B	0.32526	0.374	B	0.42593	0.392	T	0.28138	-1.0053	10	0.19590	T	0.45	-12.9362	6.6005	0.22697	0.6302:0.2511:0.1187:0.0	.	186	P34981	TRFR_HUMAN	I	186	ENSP00000430711:N186I;ENSP00000309818:N186I	ENSP00000309818:N186I	N	+	2	0	TRHR	110169474	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	2.973000	0.49264	0.534000	0.28695	0.533000	0.62120	AAT		0.403	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			14	51	0	0	0	0	14	51				
TAF2	6873	broad.mit.edu	37	8	120809913	120809913	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr8:120809913C>G	ENST00000378164.2	-	7	1264	c.966G>C	c.(964-966)atG>atC	p.M322I		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	322					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAAAAATGCTCATGGAAGCAT	0.338																																						uc003you.2		NA																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(964-966)ATG>ATC		TBP-associated factor 2							83.0	79.0	80.0					8																	120809913		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120809913C>G	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.966G>C	8.37:g.120809913C>G	ENSP00000367406:p.Met322Ile						p.M322I	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		7	1236	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		322					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.966G>C	CCDS34937.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.169470|4.169470	0.78452|0.78452	.|.	.|.	ENSG00000064313|ENSG00000064313	ENST00000378164|ENST00000523904	T|.	0.36699|.	1.24|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.038478|.	0.85682|.	D|.	0.000000|.	T|.	0.73156|.	0.3551|.	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	P|.	0.46706|.	0.883|.	P|.	0.49887|.	0.625|.	T|.	0.67341|.	-0.5695|.	10|.	0.66056|.	D|.	0.02|.	-15.7351|-15.7351	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	322|.	Q6P1X5|.	TAF2_HUMAN|.	I|S	322|53	ENSP00000367406:M322I|.	ENSP00000367406:M322I|.	M|X	-|-	3|2	0|2	TAF2|TAF2	120879094|120879094	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	ATG|TGA		0.338	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		11	25	0	0	0	0	11	25				
IL11RA	3590	broad.mit.edu	37	9	34655639	34655639	+	Silent	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:34655639G>A	ENST00000555003.1	+	3	1494	c.138G>A	c.(136-138)ctG>ctA	p.L46L	GALT_ENST00000556278.1_Silent_p.L190L|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000318041.9_Silent_p.L46L|IL11RA_ENST00000378817.4_Silent_p.L46L|IL11RA_ENST00000441545.2_Silent_p.L46L|IL11RA_ENST00000602473.1_Silent_p.L46L			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	46	Ig-like C2-type.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCGTGAAGCTGTGTTGTCCTG	0.582																																						uc003zvi.2		NA																	0				skin(1)	1						c.(136-138)CTG>CTA		interleukin 11 receptor, alpha isoform 1	Oprelvekin(DB00038)						124.0	85.0	98.0					9																	34655639		2203	4300	6503	SO:0001819	synonymous_variant	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34655639G>A	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.138G>A	9.37:g.34655639G>A						IL11RA_uc011loq.1_Silent_p.L46L|IL11RA_uc003zvj.2_Silent_p.L46L|IL11RA_uc003zvk.2_Silent_p.L46L|IL11RA_uc010mke.2_Translation_Start_Site|IL11RA_uc003zvl.2_RNA	p.L46L	NM_004512	NP_004503	Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	3	1494	+	all_epithelial(49;0.102)		46			Ig-like C2-type.|Extracellular (Potential).		Q16542|Q5VZ80|Q7KYJ7	Silent	SNP	ENST00000555003.1	37	c.138G>A	CCDS6567.1																																																																																				0.582	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		10	12	0	0	0	0	10	12				
COL15A1	1306	broad.mit.edu	37	9	101817638	101817638	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:101817638G>A	ENST00000375001.3	+	34	3599	c.3176G>A	c.(3175-3177)gGa>gAa	p.G1059E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1059	Triple-helical region 8 (COL8).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCCTGCCCGGAAATCCAGGC	0.542																																						uc004azb.1		NA																	0				ovary(6)	6						c.(3175-3177)GGA>GAA		alpha 1 type XV collagen precursor							50.0	56.0	54.0					9																	101817638		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101817638G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3176G>A	9.37:g.101817638G>A	ENSP00000364140:p.Gly1059Glu						p.G1059E	NM_001855	NP_001846	P39059	COFA1_HUMAN			34	3382	+		Acute lymphoblastic leukemia(62;0.0562)	1059			Triple-helical region 8 (COL8).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.3176G>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071483	0.36566	.	.	ENSG00000204291	ENST00000375001	D	0.97404	-4.37	5.73	5.73	0.89815	.	0.107673	0.64402	D	0.000005	D	0.98994	0.9657	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99399	1.0927	10	0.72032	D	0.01	-12.1321	16.8192	0.85741	0.0:0.0:1.0:0.0	.	1059	P39059	COFA1_HUMAN	E	1059	ENSP00000364140:G1059E	ENSP00000364140:G1059E	G	+	2	0	COL15A1	100857459	1.000000	0.71417	0.837000	0.33122	0.075000	0.17131	7.305000	0.78891	2.722000	0.93159	0.655000	0.94253	GGA		0.542	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		27	63	0	0	0	0	27	63				
OR1L4	254973	broad.mit.edu	37	9	125486501	125486501	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:125486501T>C	ENST00000259466.1	+	1	233	c.233T>C	c.(232-234)aTa>aCa	p.I78T		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACAACAGTCATAGTGCCTAAG	0.443																																						uc004bmu.1		NA																	0					0						c.(232-234)ATA>ACA		olfactory receptor, family 1, subfamily L,							114.0	112.0	112.0					9																	125486501		2203	4298	6501	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486501T>C		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.233T>C	9.37:g.125486501T>C	ENSP00000259466:p.Ile78Thr						p.I78T	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	233	+			78			Helical; Name=2; (Potential).		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.233T>C	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.851074	0.00563	.	.	ENSG00000136939	ENST00000259466	T	0.01139	5.28	3.9	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.510952	0.17787	N	0.162012	T	0.00724	0.0024	N	0.12611	0.24	0.26950	N	0.966054	B	0.06786	0.001	B	0.06405	0.002	T	0.46359	-0.9197	10	0.02654	T	1	-7.1789	8.3784	0.32457	0.0:0.0983:0.0:0.9017	.	78	Q8NGR5	OR1L4_HUMAN	T	78	ENSP00000259466:I78T	ENSP00000259466:I78T	I	+	2	0	OR1L4	124526322	0.000000	0.05858	0.997000	0.53966	0.701000	0.40568	0.401000	0.20948	0.561000	0.29186	0.248000	0.18094	ATA		0.443	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			34	100	0	0	0	0	34	100				
SLC2A6	11182	broad.mit.edu	37	9	136338606	136338607	+	Nonsense_Mutation	DNP	GC	GC	AT	rs370066215	byFrequency	TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:136338606_136338607GC>AT	ENST00000371899.4	-	8	1229_1230	c.1152_1153GC>AT	c.(1150-1155)gcGCag>gcATag	p.Q385*	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Intron	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	385					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCCAGGGGCTGCGCCAAGTCCC	0.663																																						uc004cee.2		NA																	0					0						c.(1150-1155)GCGCAG>GCATAG		solute carrier family 2 (facilitated glucose																																				SO:0001587	stop_gained	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136338606_136338607GC>AT	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1152_1153delinsAT	9.37:g.136338606_136338607delinsAT	ENSP00000360966:p.Gln385*					SLC2A6_uc004cef.2_Intron|SLC2A6_uc004ceg.2_Nonsense_Mutation_p.Q362*	p.Q385*	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	8	1247_1248	-			385			Extracellular (Potential).		A6NNU6|Q5SXD7|Q8NCC2	Nonsense_Mutation	DNP	ENST00000371899.4	37	c.1152_1153GC>AT	CCDS6975.1																																																																																				0.663	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		8	20	0	0	0	0	8	20				
ABCB7	22	broad.mit.edu	37	X	74288843	74288843	+	Splice_Site	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chrX:74288843T>C	ENST00000373394.3	-	12	1665	c.1658A>G	c.(1657-1659)cAg>cGg	p.Q553R	ABCB7_ENST00000339447.4_Splice_Site_p.Q513R|ABCB7_ENST00000253577.3_Splice_Site_p.Q554R|ABCB7_ENST00000534570.1_5'UTR			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	553	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTAAATACCTGAGGTACCAC	0.403																																						uc004eca.2		NA																	0				ovary(1)	1						c.(1657-1659)CAG>CGG		ATP-binding cassette, sub-family B, member 7							104.0	98.0	100.0					X																	74288843		2203	4300	6503	SO:0001630	splice_region_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74288843T>C	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1659+1A>G	X.37:g.74288843T>C						ABCB7_uc004ebz.2_Missense_Mutation_p.Q554R|ABCB7_uc011mqn.1_Missense_Mutation_p.Q527R|ABCB7_uc010nls.2_Missense_Mutation_p.Q514R|ABCB7_uc010nlt.2_Missense_Mutation_p.Q513R	p.Q553R	NM_004299	NP_004290	O75027	ABCB7_HUMAN			12	1683	-			553			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1658A>G		.	.	.	.	.	.	.	.	.	.	T	19.93	3.917317	0.73098	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.1	3.91	0.45181	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98557	0.9518	H	0.99347	4.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.989;1.0;1.0;0.999	D	0.98102	1.0415	10	0.87932	D	0	-1.7155	9.5411	0.39252	0.0:0.0863:0.0:0.9137	.	527;513;554;553;554	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	R	527;554;513;553;527	ENSP00000253577:Q554R;ENSP00000343849:Q513R;ENSP00000362492:Q553R;ENSP00000436586:Q527R	ENSP00000253577:Q554R	Q	-	2	0	ABCB7	74205568	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.727000	0.68523	1.700000	0.51204	0.425000	0.28330	CAG		0.403	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	Missense_Mutation	3	73	0	0	0	0	3	73				
RBM41	55285	broad.mit.edu	37	X	106358744	106358744	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chrX:106358744G>C	ENST00000372479.3	-	4	391	c.361C>G	c.(361-363)Ctt>Gtt	p.L121V	RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000203616.8_Missense_Mutation_p.L121V|RBM41_ENST00000372487.1_Missense_Mutation_p.L121V	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	121							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ATATCTTGAAGACGGTTCTGT	0.463																																						uc004emz.2		NA																	0				ovary(1)	1						c.(361-363)CTT>GTT		RNA binding motif protein 41							119.0	103.0	108.0					X																	106358744		2203	4300	6503	SO:0001583	missense	55285						nucleotide binding|RNA binding	g.chrX:106358744G>C	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.361C>G	X.37:g.106358744G>C	ENSP00000361557:p.Leu121Val					RBM41_uc004emy.1_Missense_Mutation_p.L121V	p.L121V	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN			4	392	-			121					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	c.361C>G	CCDS14526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.029490|4.029490	0.75504|0.75504	.|.	.|.	ENSG00000089682|ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000203616;ENST00000372482|ENST00000434854	T;T|.	0.58060|.	1.02;0.36|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.29908|0.29908	0.895|0.895	0.51767|0.51767	D|D	0.999937|0.999937	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.50197|0.50197	-0.8856|-0.8856	10|5	0.87932|.	D|.	0|.	.|.	13.3554|13.3554	0.60625|0.60625	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	121|.	Q96IZ5|.	RBM41_HUMAN|.	V|C	121|118	ENSP00000361565:L121V;ENSP00000361557:L121V|.	ENSP00000203616:L121V|.	L|S	-|-	1|2	0|0	RBM41|RBM41	106245400|106245400	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	6.336000|6.336000	0.72954|0.72954	2.216000|2.216000	0.71823|0.71823	0.468000|0.468000	0.43344|0.43344	CTT|TCT		0.463	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		32	13	0	0	0	0	32	13				
TMLHE	55217	broad.mit.edu	37	X	154736595	154736595	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chrX:154736595T>C	ENST00000334398.3	-	6	1104	c.959A>G	c.(958-960)aAt>aGt	p.N320S	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.N320S	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	320					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGTAGATATTTAAGACTGG	0.373																																						uc004fnn.2		NA																	0				ovary(1)	1						c.(958-960)AAT>AGT		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						128.0	125.0	126.0					X																	154736595		2203	4300	6503	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154736595T>C	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.959A>G	X.37:g.154736595T>C	ENSP00000335261:p.Asn320Ser					TMLHE_uc004fno.2_Missense_Mutation_p.N320S|TMLHE_uc004fnp.3_Missense_Mutation_p.N320S	p.N320S	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			6	1125	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		320					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.959A>G	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	T	9.901	1.206772	0.22205	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.81739	-1.5;-1.53	4.42	4.42	0.53409	.	0.092672	0.64402	D	0.000001	T	0.65491	0.2696	N	0.21240	0.645	0.42899	D	0.994225	B;B;B	0.33022	0.394;0.194;0.287	B;B;B	0.30782	0.12;0.113;0.112	T	0.61973	-0.6952	10	0.17832	T	0.49	-21.1653	11.0237	0.47732	0.0:0.0:0.0:1.0	.	320;320;320	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	S	320	ENSP00000335261:N320S;ENSP00000358447:N320S	ENSP00000335261:N320S	N	-	2	0	TMLHE	154389789	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	2.579000	0.46059	1.568000	0.49683	0.402000	0.26972	AAT		0.373	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		70	14	0	0	0	0	70	14				
CPT2	1376	broad.mit.edu	37	1	53676319	53676319	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr1:53676319delC	ENST00000371486.3	+	4	1488	c.973delC	c.(973-975)ctcfs	p.L325fs	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	325					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTGTTCTGTCTCTGCCTAGA	0.512																																						uc001cvb.3		NA																	0					0						c.(973-975)CTCfs		carnitine O-palmitoyltransferase precursor	L-Carnitine(DB00583)|Perhexiline(DB01074)						89.0	83.0	85.0					1																	53676319		2203	4300	6503	SO:0001589	frameshift_variant	1376				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	g.chr1:53676319delC	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.973delC	1.37:g.53676319delC	ENSP00000360541:p.Leu325fs						p.L325fs	NM_000098	NP_000089	P23786	CPT2_HUMAN			4	1488	+			325			Mitochondrial matrix (By similarity).		B2R6S0|Q5SW68|Q9BQ26	Frame_Shift_Del	DEL	ENST00000371486.3	37	c.973delC	CCDS575.1																																																																																				0.512	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098		28	50	NA	NA	NA	NA	28	50	---	---	---	---
HMX3	340784	broad.mit.edu	37	10	124895904	124895904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr10:124895904delC	ENST00000357878.5	+	1	427	c.338delC	c.(337-339)tccfs	p.S113fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	113					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CTGGAGCGCTCCCCAGCCTGG	0.687																																						uc010quc.1		NA																	0					0						c.(337-339)TCCfs		H6 family homeobox 3							11.0	15.0	13.0					10																	124895904		1967	4122	6089	SO:0001589	frameshift_variant	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124895904delC		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.338delC	10.37:g.124895904delC	ENSP00000350549:p.Ser113fs						p.S113fs	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	1	338	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	113					A8MU06	Frame_Shift_Del	DEL	ENST00000357878.5	37	c.338delC	CCDS41575.1																																																																																				0.687	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		2	4	NA	NA	NA	NA	2	4	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506549	11506549	+	Intron	DEL	G	G	-			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr12:11506549delG	ENST00000500254.2	-	3	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTCCTTGTGGGGGTGGTCC	0.612																																						uc001qzw.1		NA																	0					0						c.(487-489)CCAfs		proline-rich protein BstNI subfamily 1 isoform 1							14.0	9.0	11.0					12																	11506549		1101	1573	2674	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506549delG		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+174C>-	12.37:g.11506549delG						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.P163fs	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	525	-			224		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	9.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Del	DEL	ENST00000500254.2	37	c.488delC	CCDS8642.1																																																																																				0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		94	82	NA	NA	NA	NA	94	82	---	---	---	---
ZNF737	100129842	broad.mit.edu	37	19	20728437	20728437	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr19:20728437delT	ENST00000427401.4	-	4	666	c.572delA	c.(571-573)catfs	p.H191fs		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	191					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTTTCTTATGTGTAGTAAG	0.358																																						uc002npa.2		NA																	0				ovary(1)	1						c.(571-573)CATfs		zinc finger protein 737							22.0	20.0	20.0					19																	20728437		692	1590	2282	SO:0001589	frameshift_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728437delT	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.572delA	19.37:g.20728437delT	ENSP00000395733:p.His191fs						p.H191fs	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	752	-			191					C9JHM3	Frame_Shift_Del	DEL	ENST00000427401.4	37	c.572delA	CCDS54238.1																																																																																				0.358	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		12	29	NA	NA	NA	NA	12	29	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1053)gtggggfs	p.VG350fs	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.VG350fs|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CTGGAATACGTGGGGGGCATCA	0.54											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ztb.1		NA																	0					0						c.(1048-1050)GTGfs		heparin cofactor II precursor	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21138419_21138420insG	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1055dupG	22.37:g.21138425_21138425dupG	ENSP00000215727:p.Val350fs		OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	746	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Frame_Shift_Ins_p.V378fs	p.V350fs	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		3	1116_1117	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	350					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.1049_1050insG	CCDS13783.1																																																																																				0.540	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		36	72	NA	NA	NA	NA	36	72	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42191530	42191531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr22:42191530_42191531insT	ENST00000401548.3	+	29	3690_3691	c.3650_3651insT	c.(3649-3654)catggcfs	p.G1218fs	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.G551fs|MEI1_ENST00000300398.4_Intron	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGCCCTGCATGGCTTCTTCC	0.574																																						uc003baz.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(3649-3651)CATfs		meiosis defective 1																																				SO:0001589	frameshift_variant	150365						binding	g.chr22:42191530_42191531insT	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3651dupT	22.37:g.42191531_42191531dupT	ENSP00000384115:p.Gly1218fs					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Frame_Shift_Ins_p.H603fs|MEI1_uc003bbc.1_Frame_Shift_Ins_p.H585fs|MEI1_uc010gym.1_Frame_Shift_Ins_p.H550fs|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc003bbf.2_Frame_Shift_Ins_p.H231fs|MEI1_uc003bbg.2_Intron	p.H1217fs	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			29	3675_3676	+			1217						Frame_Shift_Ins	INS	ENST00000401548.3	37	c.3650_3651insT	CCDS46718.1																																																																																				0.574	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		23	36	NA	NA	NA	NA	23	36	---	---	---	---
SURF2	6835	broad.mit.edu	37	9	136227265	136227266	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CX-7082-01A-11D-2012-08	TCGA-CX-7082-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c6c96b8-958e-4235-9673-8bf4ce0e6b38	9cf2fe5e-2262-4970-892a-5c0e5571a4d6	g.chr9:136227265_136227266delGA	ENST00000371964.4	+	5	683_684	c.642_643delGA	c.(640-645)aggagafs	p.RR214fs		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	214						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		ATGAGAGCAGGAGAGAGACGAC	0.554																																						uc004cdi.2		NA																	0					0						c.(640-645)AGGAGAfs		surfeit 2																																				SO:0001589	frameshift_variant	6835						protein binding	g.chr9:136227265_136227266delGA		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.642_643delGA	9.37:g.136227271_136227272delGA	ENSP00000361032:p.Arg214fs						p.R214fs	NM_017503	NP_059973	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	5	690_691	+			214_215					Q6IBP9|Q96CD1	Frame_Shift_Del	DEL	ENST00000371964.4	37	c.642_643delGA	CCDS6967.1																																																																																				0.554	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		9	29	NA	NA	NA	NA	9	29	---	---	---	---
