#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
TTLL10	254173	broad.mit.edu	37	1	1120451	1120451	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:1120451C>A	ENST00000379290.1	+	13	1536	c.1363C>A	c.(1363-1365)Cgg>Agg	p.R455R	TTLL10_ENST00000379288.3_Silent_p.R382R|TTLL10_ENST00000379289.1_Silent_p.R455R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	455	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612																																						uc001acy.2		NA																	0				large_intestine(1)	1						c.(1363-1365)CGG>AGG		tubulin tyrosine ligase-like family, member 10							88.0	69.0	75.0					1																	1120451		2203	4300	6503	SO:0001819	synonymous_variant	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1120451C>A	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1363C>A	1.37:g.1120451C>A						TTLL10_uc010nyg.1_Silent_p.R455R|TTLL10_uc001acz.1_Silent_p.R382R	p.R455R	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	13	1514	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	455			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	ENST00000379290.1	37	c.1363C>A	CCDS44036.1																																																																																				0.612	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		14	14	1	0	9.31e-06	2e-05	14	14				
FPGT	8790	broad.mit.edu	37	1	74670983	74670983	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:74670983G>T	ENST00000609362.1	+	4	1289	c.1252G>T	c.(1252-1254)Gtt>Ttt	p.V418F	FPGT_ENST00000534056.1_Missense_Mutation_p.V164F|FPGT_ENST00000370894.5_Missense_Mutation_p.Q145H|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.V431F|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	418					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACCTGGCTCAGTTGTGGAGTA	0.433																																						uc001dgb.1		NA																	0				skin(1)	1						c.(1252-1254)GTT>TTT		fucose-1-phosphate guanyltransferase							98.0	106.0	103.0					1																	74670983		2203	4299	6502	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670983G>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1252G>T	1.37:g.74670983G>T	ENSP00000476680:p.Val418Phe					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.V43F|FPGT_uc010oqu.1_Missense_Mutation_p.V164F|FPGT_uc010oqv.1_Intron	p.V418F	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	1289	+			418					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.1252G>T	CCDS663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.89|15.89	2.966301|2.966301	0.53507|0.53507	.|.	.|.	ENSG00000254685|ENSG00000254685	ENST00000370894|ENST00000370898;ENST00000534056	.|T;T	.|0.39229	.|1.09;1.09	5.72|5.72	4.81|4.81	0.61882|0.61882	.|L-fucokinase (1);	.|.	.|.	.|.	.|.	T|T	0.50939|0.50939	0.1645|0.1645	M|M	0.71296|0.71296	2.17|2.17	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.71674	.|0.998;0.997;0.934	.|D;D;P	.|0.71656	.|0.974;0.96;0.78	T|T	0.57545|0.57545	-0.7793|-0.7793	6|9	0.87932|0.62326	D|D	0|0.03	.|.	11.1241|11.1241	0.48308|0.48308	0.192:0.0:0.808:0.0|0.192:0.0:0.808:0.0	.|.	.|164;43;418	.|E9PNQ2;B4E2Y7;O14772	.|.;.;FPGT_HUMAN	H|F	145|418;164	.|ENSP00000359935:V418F;ENSP00000432819:V164F	ENSP00000359931:Q145H|ENSP00000359935:V418F	Q|V	+|+	3|1	2|0	TNNI3K|TNNI3K	74443571|74443571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.723000|0.723000	0.41478|0.41478	2.773000|2.773000	0.47686|0.47686	1.421000|1.421000	0.47157|0.47157	0.655000|0.655000	0.94253|0.94253	CAG|GTT		0.433	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				44	52	1	0	9.39e-22	2.37e-21	44	52				
NEXN	91624	broad.mit.edu	37	1	78390878	78390878	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:78390878G>A	ENST00000334785.7	+	6	637	c.453G>A	c.(451-453)gaG>gaA	p.E151E	NEXN_ENST00000457030.1_Intron|NEXN_ENST00000330010.8_Silent_p.E87E	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATAGATTGAGGACATAAACA	0.289																																						uc001dic.3		NA																	0				ovary(2)	2						c.(451-453)GAG>GAA		nexilin (F actin binding protein)							70.0	67.0	68.0					1																	78390878		1832	4061	5893	SO:0001819	synonymous_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78390878G>A	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.453G>A	1.37:g.78390878G>A						NEXN_uc001dia.3_Intron|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Silent_p.E87E|NEXN_uc001did.1_Intron|NEXN_uc001dif.1_Silent_p.E43E	p.E151E	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	6	750	+			151			Glu-rich.			Silent	SNP	ENST00000334785.7	37	c.453G>A	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	G	5.635	0.301862	0.10678	.	.	ENSG00000162614	ENST00000342754	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	T	0.55081	0.1898	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54957	-0.8215	4	.	.	.	-13.1623	12.5554	0.56250	0.0:0.0:0.7209:0.2791	.	.	.	.	K	51	.	.	R	+	2	0	NEXN	78163466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.192000	0.42649	2.589000	0.87451	0.650000	0.86243	AGG		0.289	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		4	9	0	0	0	0	4	9				
VAV3	10451	broad.mit.edu	37	1	108247231	108247231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:108247231G>A	ENST00000370056.4	-	17	1920	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	VAV3_ENST00000527011.1_Missense_Mutation_p.A549V|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.A484V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	549					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTGTGCTCTCGCTCCACACTT	0.358																																						uc001dvk.1		NA																	0				ovary(5)|lung(2)|breast(2)	9						c.(1645-1647)GCG>GTG		vav 3 guanine nucleotide exchange factor isoform							121.0	116.0	117.0					1																	108247231		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108247231G>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1646C>T	1.37:g.108247231G>A	ENSP00000359073:p.Ala549Val					VAV3_uc010ouw.1_Missense_Mutation_p.A549V|VAV3_uc001dvl.1_Missense_Mutation_p.A373V|VAV3_uc010oux.1_Missense_Mutation_p.A549V	p.A549V	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	17	1700	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	549			Phorbol-ester/DAG-type.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.1646C>T	CCDS785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.778|5.778	0.327970|0.327970	0.10956|0.10956	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000529809;ENST00000490388	D;D;D|.	0.92595|.	-3.07;-3.07;-3.07|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);|.	0.196873|.	0.43919|.	D|.	0.000508|.	T|.	0.30230|.	0.0758|.	N|N	0.03903|0.03903	-0.33|-0.33	0.44073|0.44073	D|D	0.996826|0.996826	B;D;P;B|.	0.53745|.	0.25;0.962;0.641;0.25|.	B;B;B;B|.	0.42916|.	0.078;0.402;0.163;0.113|.	T|.	0.33445|.	-0.9868|.	10|.	0.02654|.	T|.	1|.	.|.	20.181|20.181	0.98201|0.98201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	549;549;484;549|.	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4|.	.;.;.;VAV3_HUMAN|.	V|X	549;549;484|101;544	ENSP00000359073:A549V;ENSP00000432540:A549V;ENSP00000360912:A484V|.	ENSP00000359073:A549V|.	A|R	-|-	2|1	0|2	VAV3|VAV3	108048754|108048754	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.977000|0.977000	0.68977|0.68977	5.459000|5.459000	0.66685|0.66685	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.358	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		19	26	0	0	0	0	19	26				
PTGFRN	5738	broad.mit.edu	37	1	117504234	117504234	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:117504234G>T	ENST00000393203.2	+	5	1730	c.1583G>T	c.(1582-1584)tGg>tTg	p.W528L	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	528	Ig-like C2-type 4.				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)		AACAACAGCTGGGTGAAAAGC	0.413																																						uc001egv.1		NA																	0				liver(1)	1						c.(1582-1584)TGG>TTG		prostaglandin F2 receptor negative regulator							62.0	60.0	60.0					1																	117504234		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117504234G>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.1583G>T	1.37:g.117504234G>T	ENSP00000376899:p.Trp528Leu						p.W528L	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	5	1720	+	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)	528			Extracellular (Potential).|Ig-like C2-type 4.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1583G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048749	0.75846	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.04917	3.53	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.277671	0.37906	N	0.001890	T	0.10294	0.0252	M	0.66939	2.045	0.58432	D	0.999998	D	0.52996	0.957	P	0.55615	0.78	T	0.19451	-1.0305	10	0.22706	T	0.39	-17.3522	16.51	0.84282	0.0:0.0:1.0:0.0	.	528	Q9P2B2	FPRP_HUMAN	L	528;387	ENSP00000376899:W528L	ENSP00000376899:W528L	W	+	2	0	PTGFRN	117305757	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.553000	0.82203	2.504000	0.84457	0.289000	0.19496	TGG		0.413	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		19	26	1	0	1.45e-14	3.56e-14	19	26				
ANP32E	81611	broad.mit.edu	37	1	150202958	150202958	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:150202958T>G	ENST00000314136.8	-	3	644	c.275A>C	c.(274-276)tAc>tCc	p.Y92S	ANP32E_ENST00000369119.3_Missense_Mutation_p.Y44S|ANP32E_ENST00000369114.5_Missense_Mutation_p.Y92S|ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000533654.1_Missense_Mutation_p.Y92S|ANP32E_ENST00000369115.2_Intron	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	92					histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGATTGAGGTAGGTAAGATT	0.358																																						uc001etw.2		NA																	0					0						c.(274-276)TAC>TCC		acidic (leucine-rich) nuclear phosphoprotein 32							118.0	111.0	114.0					1																	150202958		2203	4300	6503	SO:0001583	missense	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150202958T>G	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.275A>C	1.37:g.150202958T>G	ENSP00000324074:p.Tyr92Ser					ANP32E_uc010pbu.1_Missense_Mutation_p.Y44S|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Missense_Mutation_p.Y92S|ANP32E_uc010pbw.1_Missense_Mutation_p.Y92S	p.Y92S	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	645	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		92			LRR 4.		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	c.275A>C	CCDS946.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.671918	0.67928	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369114;ENST00000533654;ENST00000532744	T;T;T;T;T	0.09163	3.01;3.01;3.07;3.07;8.03	6.02	4.86	0.63082	.	0.055499	0.85682	D	0.000000	T	0.12305	0.0299	L	0.35542	1.07	0.80722	D	1	D;B;D	0.71674	0.998;0.387;0.998	D;B;D	0.69824	0.948;0.18;0.966	T	0.02244	-1.1189	10	0.87932	D	0	.	11.739	0.51781	0.1321:0.0:0.0:0.8679	.	92;92;44	E9PLC4;Q9BTT0;Q5TB20	.;AN32E_HUMAN;.	S	92;44;92;92;42	ENSP00000324074:Y92S;ENSP00000358115:Y44S;ENSP00000358110:Y92S;ENSP00000435215:Y92S;ENSP00000432684:Y42S	ENSP00000324074:Y92S	Y	-	2	0	ANP32E	148469582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.174000	0.71943	1.047000	0.40274	0.448000	0.29417	TAC		0.358	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		4	43	0	0	0	0	4	43				
FLG	2312	broad.mit.edu	37	1	152278933	152278933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152278933C>A	ENST00000368799.1	-	3	8464	c.8429G>T	c.(8428-8430)gGa>gTa	p.G2810V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2810	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAGTGTCCAGAGCTATC	0.577									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8428-8430)GGA>GTA		filaggrin							125.0	184.0	164.0					1																	152278933		2200	4280	6480	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278933C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8429G>T	1.37:g.152278933C>A	ENSP00000357789:p.Gly2810Val						p.G2810V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8465	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2810			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8429G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.757	0.922741	0.18056	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01665	4.7	3.77	0.666	0.17901	.	.	.	.	.	T	0.00754	0.0025	M	0.78916	2.43	0.09310	N	1	B	0.34214	0.442	B	0.26517	0.07	T	0.45659	-0.9246	9	0.27785	T	0.31	-1.1447	4.4407	0.11573	0.0:0.5902:0.1859:0.2239	.	2810	P20930	FILA_HUMAN	V	2810;72	ENSP00000357789:G2810V	ENSP00000357786:G72V	G	-	2	0	FLG	150545557	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.457000	0.06745	0.021000	0.15133	-0.699000	0.03677	GGA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		65	468	1	0	1.77e-58	4.59e-58	65	468				
LCE3A	353142	broad.mit.edu	37	1	152595358	152595358	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152595358C>T	ENST00000335674.1	-	1	221	c.222G>A	c.(220-222)caG>caA	p.Q74Q		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	74					keratinization (GO:0031424)					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCGCCTTGCTGACCACTTC	0.567																																						uc010pdt.1		NA																	0					0						c.(220-222)CAG>CAA		late cornified envelope 3A							47.0	51.0	50.0					1																	152595358		2203	4299	6502	SO:0001819	synonymous_variant	353142				keratinization			g.chr1:152595358C>T		CCDS1017.1	1q21.3	2008-02-05			ENSG00000185962	ENSG00000185962		"""Late cornified envelopes"""	29461	protein-coding gene	gene with protein product		612613				11698679	Standard	NM_178431		Approved	LEP13	uc010pdt.2	Q5TA76	OTTHUMG00000012397	ENST00000335674.1:c.222G>A	1.37:g.152595358C>T							p.Q74Q	NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	222	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		74						Silent	SNP	ENST00000335674.1	37	c.222G>A	CCDS1017.1																																																																																				0.567	LCE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034517.2	NM_178431		15	108	0	0	0	0	15	108				
FCRL4	83417	broad.mit.edu	37	1	157557331	157557331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:157557331C>A	ENST00000271532.1	-	5	717	c.582G>T	c.(580-582)gaG>gaT	p.E194D	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	194	Ig-like C2-type 3.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TAGCTTTCAGCTCTGGATGTG	0.483																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(580-582)GAG>GAT		Fc receptor-like 4 precursor							97.0	101.0	100.0					1																	157557331		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557331C>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.582G>T	1.37:g.157557331C>A	ENSP00000271532:p.Glu194Asp					FCRL4_uc010phy.1_RNA	p.E194D	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			5	718	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	194			Ig-like C2-type 3.|Extracellular (Potential).		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.582G>T	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	4.734	0.136465	0.09032	.	.	ENSG00000163518	ENST00000271532	T	0.12774	2.65	4.71	-0.639	0.11497	Immunoglobulin-like (1);	1.379720	0.04956	N	0.461190	T	0.03783	0.0107	M	0.64997	1.995	0.09310	N	1	B	0.11235	0.004	B	0.19946	0.027	T	0.41197	-0.9522	10	0.16896	T	0.51	.	1.5511	0.02575	0.1615:0.3395:0.3147:0.1842	.	194	Q96PJ5	FCRL4_HUMAN	D	194	ENSP00000271532:E194D	ENSP00000271532:E194D	E	-	3	2	FCRL4	155823955	0.006000	0.16342	0.005000	0.12908	0.610000	0.37248	-0.268000	0.08607	0.006000	0.14734	0.467000	0.42956	GAG		0.483	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		13	125	1	0	0.000151284	0.000311905	13	125				
FCRL2	79368	broad.mit.edu	37	1	157740241	157740241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:157740241G>A	ENST00000361516.3	-	3	316	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Missense_Mutation_p.L90F|FCRL2_ENST00000392274.3_Missense_Mutation_p.L90F	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	90	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTATCCCAGAGAAAGAGTTGT	0.403																																						uc001fre.2		NA																	0				ovary(1)|pancreas(1)	2						c.(268-270)CTC>TTC		Fc receptor-like 2 precursor							87.0	98.0	94.0					1																	157740241		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157740241G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.268C>T	1.37:g.157740241G>A	ENSP00000355157:p.Leu90Phe					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.L90F|FCRL2_uc009wsp.2_Missense_Mutation_p.L90F|FCRL2_uc010pia.1_Missense_Mutation_p.L90F	p.L90F	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	327	-	all_hematologic(112;0.0378)		90			Ig-like C2-type 1.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.268C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	A	1.452	-0.564847	0.03939	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274	T;T;T	0.12361	2.69;2.69;2.69	4.12	-2.89	0.05665	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	20.315600	0.00777	N	0.001244	T	0.01905	0.0060	N	0.16201	0.385	0.09310	N	1	B;B;B;B	0.16603	0.001;0.001;0.018;0.001	B;B;B;B	0.14023	0.004;0.008;0.01;0.008	T	0.36065	-0.9763	10	0.13108	T	0.6	.	8.0418	0.30526	0.2121:0.0:0.6398:0.1481	.	90;90;90;90	B4E0W2;B4DVJ9;Q96LA5-5;Q96LA5	.;.;.;FCRL2_HUMAN	F	90	ENSP00000355157:L90F;ENSP00000357163:L90F;ENSP00000376100:L90F	ENSP00000292389:L90F	L	-	1	0	FCRL2	156006865	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.845000	0.00735	-1.091000	0.03065	-1.239000	0.01543	CTC		0.403	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		14	62	0	0	0	0	14	62				
ATF6	22926	broad.mit.edu	37	1	161789450	161789450	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:161789450A>G	ENST00000367942.3	+	8	1004	c.937A>G	c.(937-939)Atg>Gtg	p.M313V		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	313	Basic motif.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	ACAGCAACGTATGATAAAAAA	0.368																																						uc001gbr.2		NA																	0				ovary(2)|skin(1)	3						c.(937-939)ATG>GTG		activating transcription factor 6							60.0	61.0	60.0					1																	161789450		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161789450A>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.937A>G	1.37:g.161789450A>G	ENSP00000356919:p.Met313Val					ATF6_uc001gbq.1_Missense_Mutation_p.M313V	p.M313V	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		8	1004	+	all_hematologic(112;0.156)		313			Basic motif.|Cytoplasmic (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.937A>G	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901515	0.72754	.	.	ENSG00000118217	ENST00000367942	T	0.55588	0.51	5.19	5.19	0.71726	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.92268	3.29	0.58432	D	0.999991	D;P	0.62365	0.991;0.878	P;P	0.60173	0.87;0.492	T	0.77940	-0.2399	9	0.52906	T	0.07	-12.9291	13.0147	0.58751	1.0:0.0:0.0:0.0	.	313;314	P18850;Q59H30	ATF6A_HUMAN;.	V	313	ENSP00000356919:M313V	ENSP00000356919:M313V	M	+	1	0	ATF6	160056074	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.062000	0.89475	1.950000	0.56595	0.528000	0.53228	ATG		0.368	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		4	54	0	0	0	0	4	54				
MGST3	4259	broad.mit.edu	37	1	165624685	165624686	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:165624685_165624686CA>AT	ENST00000367889.3	+	6	843_844	c.403_404CA>AT	c.(403-405)CAg>ATg	p.Q135M	MGST3_ENST00000367884.2_Missense_Mutation_p.Q135M|MGST3_ENST00000367888.4_Intron|MGST3_ENST00000367883.1_Missense_Mutation_p.Q149M|MGST3_ENST00000367885.1_Missense_Mutation_p.Q149M|MGST3_ENST00000367886.2_Missense_Mutation_p.Q149M	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	135					glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	CTCTGCTTTCCAGCATCTTGGT	0.47																																						uc001gdf.2		NA																	0					0						c.(403-405)CAG>ATG		microsomal glutathione S-transferase 3	Glutathione(DB00143)																																			SO:0001583	missense	4259				leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity	g.chr1:165624685_165624686CA>AT	AF026977	CCDS1249.1	1q23	2012-06-21			ENSG00000143198	ENSG00000143198	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7064	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase III"", ""microsomal GST-3"", ""microsomal GST-III"""	604564				9278457	Standard	NM_004528		Approved	GST-III	uc001gdf.3	O14880	OTTHUMG00000034627	Exception_encountered	1.37:g.165624685_165624686delinsAT	ENSP00000356864:p.Gln135Met					MGST3_uc001gdg.2_Missense_Mutation_p.Q149M	p.Q135M	NM_004528	NP_004519	O14880	MGST3_HUMAN			6	491_492	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		135			Helical; (Potential).		B2R592|Q6ICN4	Missense_Mutation	DNP	ENST00000367889.3	37	c.403_404CA>AT	CCDS1249.1																																																																																				0.470	MGST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083797.3	NM_004528		12	34	0	0	0	0	12	34				
CCDC181	57821	broad.mit.edu	37	1	169390781	169390781	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:169390781G>C	ENST00000367806.3	-	3	1040	c.888C>G	c.(886-888)ctC>ctG	p.L296L	CCDC181_ENST00000545005.1_Silent_p.L296L|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.L296L	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	296						nucleus (GO:0005634)											TCTTGCGGTTGAGTGGTGGCT	0.478																																						uc001gga.1		NA																	0					0						c.(886-888)CTC>CTG		hypothetical protein LOC57821							162.0	153.0	156.0					1																	169390781		2203	4300	6503	SO:0001819	synonymous_variant	57821							g.chr1:169390781G>C	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.888C>G	1.37:g.169390781G>C						C1orf114_uc001gfz.1_Silent_p.L296L|C1orf114_uc009wvq.1_Silent_p.L296L|C1orf114_uc001ggb.2_Silent_p.L296L|C1orf114_uc001ggc.1_Silent_p.L296L	p.L296L	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	1056	-	all_hematologic(923;0.208)		296					O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.888C>G																																																																																					0.478	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		45	117	0	0	0	0	45	117				
F5	2153	broad.mit.edu	37	1	169512317	169512317	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:169512317T>C	ENST00000367797.3	-	13	2212	c.2011A>G	c.(2011-2013)Aga>Gga	p.R671G	F5_ENST00000367796.3_Missense_Mutation_p.R676G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	671	F5/8 type A 2.|Plastocyanin-like 4.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTTTTGCTTCTTGGACTAGAA	0.383																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2011-2013)AGA>GGA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						76.0	75.0	75.0					1																	169512317		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512317T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2011A>G	1.37:g.169512317T>C	ENSP00000356771:p.Arg671Gly						p.R671G	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2156	-	all_hematologic(923;0.208)		671			Plastocyanin-like 4.|F5/8 type A 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2011A>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.350736	0.41599	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98345	-4.87;-4.88	5.98	4.84	0.62591	Cupredoxin (2);	0.285709	0.39341	N	0.001390	D	0.94198	0.8138	L	0.42245	1.32	0.23320	N	0.997917	B	0.15473	0.013	B	0.12156	0.007	D	0.93036	0.6453	9	0.52906	T	0.07	-18.544	12.0077	0.53270	0.0:0.069:0.0:0.931	.	671	P12259	FA5_HUMAN	G	671;676	ENSP00000356771:R671G;ENSP00000356770:R676G	ENSP00000356770:R676G	R	-	1	2	F5	167778941	0.974000	0.33945	0.999000	0.59377	0.431000	0.31685	2.729000	0.47327	2.288000	0.76882	0.482000	0.46254	AGA		0.383	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		19	52	0	0	0	0	19	52				
BRINP3	339479	broad.mit.edu	37	1	190423907	190423907	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:190423907C>T	ENST00000367462.3	-	2	345	c.114G>A	c.(112-114)caG>caA	p.Q38Q	BRINP3_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	38					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TTGTGGCATGCTGATCCGAAA	0.517																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(112-114)CAG>CAA		family with sequence similarity 5, member C							86.0	82.0	83.0					1																	190423907		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190423907C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.114G>A	1.37:g.190423907C>T						FAM5C_uc010pot.1_5'UTR	p.Q38Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			2	346	-	Prostate(682;0.198)		38					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.114G>A	CCDS1373.1																																																																																				0.517	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		13	31	0	0	0	0	13	31				
F13B	2165	broad.mit.edu	37	1	197024991	197024991	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:197024991A>T	ENST00000367412.1	-	8	1251	c.1208T>A	c.(1207-1209)aTg>aAg	p.M403K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	403	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AGCCCCATTCATTACAACAGG	0.343																																						uc001gtt.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1207-1209)ATG>AAG		coagulation factor XIII B subunit precursor							66.0	63.0	64.0					1																	197024991		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197024991A>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1208T>A	1.37:g.197024991A>T	ENSP00000356382:p.Met403Lys						p.M403K	NM_001994	NP_001985	P05160	F13B_HUMAN			8	1252	-			403			Sushi 7.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1208T>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	A	0.839	-0.742472	0.03088	.	.	ENSG00000143278	ENST00000367412	T	0.63255	-0.03	6.07	0.859	0.19036	Complement control module (2);Sushi/SCR/CCP (3);	0.992091	0.08165	N	0.987812	T	0.21921	0.0528	N	0.00750	-1.22	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30119	-0.9989	10	0.06099	T	0.92	.	0.9775	0.01429	0.2166:0.1445:0.1364:0.5025	.	403	P05160	F13B_HUMAN	K	403	ENSP00000356382:M403K	ENSP00000356382:M403K	M	-	2	0	F13B	195291614	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.092000	0.15066	0.190000	0.20209	0.533000	0.62120	ATG		0.343	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		4	56	0	0	0	0	4	56				
ASPM	259266	broad.mit.edu	37	1	197071613	197071613	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:197071613T>A	ENST00000367409.4	-	18	7024	c.6768A>T	c.(6766-6768)agA>agT	p.R2256S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2256	IQ 20. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTAAATGTCTTCTAGCTTTCT	0.348																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(6766-6768)AGA>AGT		asp (abnormal spindle)-like, microcephaly							80.0	86.0	84.0					1																	197071613		2203	4295	6498	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071613T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6768A>T	1.37:g.197071613T>A	ENSP00000356379:p.Arg2256Ser					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.R104S	p.R2256S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7025	-			2256			IQ 20.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6768A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	13.83	2.355007	0.41700	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.74315	-0.83	4.99	-0.039	0.13878	.	0.000000	0.85682	D	0.000000	D	0.88422	0.6432	H	0.96175	3.78	0.80722	D	1	B;D	0.76494	0.384;0.999	B;D	0.79108	0.186;0.992	D	0.88758	0.3255	10	0.87932	D	0	.	11.1967	0.48717	0.0:0.4682:0.0:0.5318	.	242;2256	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2256;242	ENSP00000356379:R2256S	ENSP00000356376:R242S	R	-	3	2	ASPM	195338236	0.000000	0.05858	0.596000	0.28811	0.417000	0.31264	-0.377000	0.07456	0.047000	0.15862	0.520000	0.50463	AGA		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		25	127	0	0	0	0	25	127				
FAM58BP	339521	broad.mit.edu	37	1	200183360	200183360	+	IGR	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:200183360G>C								NR5A2 (36808 upstream) : RP11-532L16.3 (101202 downstream)																							TGTGGTGGCAGGCGTTTAGTG	0.547																																						uc009wzi.1		NA																	0					0						c.(667-669)CAG>CAC		family with sequence similarity 58 member B							81.0	86.0	84.0					1																	200183360		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183360G>C																													1.37:g.200183360G>C							p.Q223H	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	705	+	Prostate(682;0.19)		223						Missense_Mutation	SNP		37	c.669G>C																																																																																				0	0.547									16	75	0	0	0	0	16	75				
KIF14	9928	broad.mit.edu	37	1	200522870	200522870	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:200522870G>A	ENST00000367350.4	-	30	5031	c.4593C>T	c.(4591-4593)ctC>ctT	p.L1531L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1531	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CACAAGTCTGGAGAAGATTTA	0.383																																						uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(4591-4593)CTC>CTT		kinesin family member 14							88.0	88.0	88.0					1																	200522870		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200522870G>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4593C>T	1.37:g.200522870G>A						KIF14_uc010ppj.1_Silent_p.L1040L	p.L1531L	NM_014875	NP_055690	Q15058	KIF14_HUMAN			30	5032	-			1531			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.4593C>T	CCDS30963.1																																																																																				0.383	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		15	54	0	0	0	0	15	54				
CR1	1378	broad.mit.edu	37	1	207755303	207755303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:207755303G>T	ENST00000367049.4	+	32	5257	c.5257G>T	c.(5257-5259)Gtt>Ttt	p.V1753F	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.V1303F|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.V1303F|CR1_ENST00000367052.1_Missense_Mutation_p.V1303F|CR1_ENST00000367053.1_Missense_Mutation_p.V1303F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1303	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGTGTCTTGGTTGGAATGAG	0.408																																						uc001hfy.2		NA																	0				ovary(3)	3						c.(3907-3909)GTT>TTT		complement receptor 1 isoform F precursor							226.0	225.0	225.0					1																	207755303		1954	4146	6100	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207755303G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5257G>T	1.37:g.207755303G>T	ENSP00000356016:p.Val1753Phe					CR1_uc009xcl.1_Missense_Mutation_p.V853F|CR1_uc001hfx.2_Missense_Mutation_p.V1753F	p.V1303F	NM_000573	NP_000564	P17927	CR1_HUMAN			24	4047	+			1303			Sushi 20.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.3907G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742446	0.49151	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	3.96	2.01	0.26516	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.40423	0.1116	L	0.60455	1.87	0.09310	N	1	D;D;D	0.76494	0.99;0.999;0.996	P;D;D	0.83275	0.815;0.996;0.985	T	0.10337	-1.0634	9	0.45353	T	0.12	.	4.8444	0.13507	0.1198:0.2233:0.657:0.0	.	1303;1303;1753	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	F	1303;1303;1303;1303;853;1753	ENSP00000356019:V1303F;ENSP00000356018:V1303F;ENSP00000356020:V1303F;ENSP00000383744:V1303F;ENSP00000436139:V853F;ENSP00000356016:V1753F	ENSP00000356016:V1753F	V	+	1	0	CR1	205821926	0.001000	0.12720	0.002000	0.10522	0.967000	0.64934	0.831000	0.27476	0.979000	0.38497	0.655000	0.94253	GTT		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		23	76	1	0	2.42e-17	6.03e-17	23	76				
KCNH1	3756	broad.mit.edu	37	1	211192294	211192294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:211192294C>T	ENST00000271751.4	-	6	890	c.863G>A	c.(862-864)cGc>cAc	p.R288H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R288H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	288					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTAGTTCATGCGGATAAGTTT	0.448																																						uc001hib.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(862-864)CGC>CAC		potassium voltage-gated channel, subfamily H,							231.0	209.0	216.0					1																	211192294		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192294C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.863G>A	1.37:g.211192294C>T	ENSP00000271751:p.Arg288His					KCNH1_uc001hic.2_Missense_Mutation_p.R288H	p.R288H	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	1033	-			288			Cytoplasmic (Potential).		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.863G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649341	0.87958	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97831	-4.56;-4.56	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99777	1.1026	10	0.66056	D	0.02	.	17.6077	0.88044	0.0:1.0:0.0:0.0	.	288;288	Q14CL3;O95259	.;KCNH1_HUMAN	H	288	ENSP00000271751:R288H;ENSP00000355974:R288H	ENSP00000271751:R288H	R	-	2	0	KCNH1	209258917	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.474000	0.81024	2.402000	0.81655	0.462000	0.41574	CGC		0.448	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		31	97	0	0	0	0	31	97				
PROX1	5629	broad.mit.edu	37	1	214171271	214171271	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:214171271C>A	ENST00000366958.4	+	2	2001	c.1393C>A	c.(1393-1395)Cac>Aac	p.H465N	PROX1_ENST00000435016.1_Missense_Mutation_p.H465N|PROX1_ENST00000498508.2_Missense_Mutation_p.H465N|PROX1_ENST00000261454.4_Missense_Mutation_p.H465N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	465					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCAGCCCCTGCACCAGTCGCC	0.632																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1393-1395)CAC>AAC		prospero homeobox 1							67.0	81.0	76.0					1																	214171271		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171271C>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1393C>A	1.37:g.214171271C>A	ENSP00000355925:p.His465Asn					PROX1_uc001hkg.1_Missense_Mutation_p.H465N	p.H465N	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1665	+			465					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1393C>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182319	0.57800	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.53423	0.67;0.62;0.67;0.67	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.62835	-0.6770	10	0.27785	T	0.31	-6.3796	19.8546	0.96752	0.0:1.0:0.0:0.0	.	465	Q92786	PROX1_HUMAN	N	37;465;465;465;465	ENSP00000420283:H465N;ENSP00000355925:H465N;ENSP00000400694:H465N;ENSP00000261454:H465N	ENSP00000261454:H465N	H	+	1	0	PROX1	212237894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.070000	0.71220	2.697000	0.92050	0.655000	0.94253	CAC		0.632	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		15	144	1	0	7.93e-07	1.75e-06	15	144				
USH2A	7399	broad.mit.edu	37	1	216258196	216258196	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:216258196C>A	ENST00000307340.3	-	25	5397	c.5011G>T	c.(5011-5013)Ggc>Tgc	p.G1671C	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.G1671C|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1671	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGAGACAGCCCACAAAACCT	0.323										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5011-5013)GGC>TGC		usherin isoform B							80.0	83.0	82.0					1																	216258196		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216258196C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5011G>T	1.37:g.216258196C>A	ENSP00000305941:p.Gly1671Cys	HNSCC(13;0.011)					p.G1671C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5398	-			1671			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5011G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528615	0.85706	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.98550	-4.99;-4.99	4.93	4.93	0.64822	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.45606	D	0.000345	D	0.99055	0.9676	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99761	1.1021	10	0.87932	D	0	.	18.2334	0.89941	0.0:1.0:0.0:0.0	.	1671	O75445	USH2A_HUMAN	C	1671	ENSP00000305941:G1671C;ENSP00000355910:G1671C	ENSP00000305941:G1671C	G	-	1	0	USH2A	214324819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.819000	0.75262	2.292000	0.77174	0.650000	0.86243	GGC		0.323	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		27	78	1	0	4.78e-09	1.11e-08	27	78				
DISP1	84976	broad.mit.edu	37	1	223116610	223116610	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:223116610C>T	ENST00000284476.6	+	2	609	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Silent_p.L149L	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	149					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)		ATCCTTCTGCCTGCATCATCC	0.473																																						uc001hnu.1		NA																	0					0						c.(445-447)CTG>TTG		dispatched A							147.0	109.0	122.0					1																	223116610		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.chr1:223116610C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.445C>T	1.37:g.223116610C>T							p.L149L	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	2	592	+			149					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	ENST00000284476.6	37	c.445C>T	CCDS1536.1																																																																																				0.473	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		24	85	0	0	0	0	24	85				
TRIM67	440730	broad.mit.edu	37	1	231333150	231333150	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:231333150G>C	ENST00000366653.5	+	2	1078	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	TRIM67_ENST00000449018.3_Missense_Mutation_p.D298H|TRIM67_ENST00000444294.3_Missense_Mutation_p.D360H|TRIM67_ENST00000366652.2_Missense_Mutation_p.D360H			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	360					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGAGTTTCAGATAAGGCAAA	0.408																																						uc009xfn.1		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1078-1080)GAT>CAT		tripartite motif-containing 67							135.0	125.0	128.0					1																	231333150		1909	4131	6040	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231333150G>C	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1078G>C	1.37:g.231333150G>C	ENSP00000355613:p.Asp360His						p.D360H	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			2	1120	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	360			Potential.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1078G>C	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764096	0.89932	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.71222	-0.55;-0.44;-0.47;-0.53	5.64	5.64	0.86602	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	L	0.57536	1.79	0.80722	D	1	D	0.60575	0.988	P	0.58928	0.848	T	0.81344	-0.0975	10	0.62326	D	0.03	.	19.7075	0.96079	0.0:0.0:1.0:0.0	.	360	Q6ZTA4	TRI67_HUMAN	H	360;360;298;360	ENSP00000412124:D360H;ENSP00000355612:D360H;ENSP00000400163:D298H;ENSP00000355613:D360H	ENSP00000355612:D360H	D	+	1	0	TRIM67	229399773	1.000000	0.71417	0.951000	0.38953	0.911000	0.54048	9.409000	0.97331	2.643000	0.89663	0.655000	0.94253	GAT		0.408	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		25	60	0	0	0	0	25	60				
FMN2	56776	broad.mit.edu	37	1	240371752	240371752	+	Missense_Mutation	SNP	G	G	T	rs368876164		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:240371752G>T	ENST00000319653.9	+	5	3870	c.3640G>T	c.(3640-3642)Ggt>Tgt	p.G1214C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1214	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCTTGCCAGGTATGGGGAT	0.647																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3640-3642)GGT>TGT		formin 2							22.0	22.0	22.0					1																	240371752		2202	4300	6502	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371752G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3640G>T	1.37:g.240371752G>T	ENSP00000318884:p.Gly1214Cys					FMN2_uc010pye.1_Missense_Mutation_p.G1218C	p.G1214C	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3865	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1214			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3640G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	10.37	1.331329	0.24167	.	.	ENSG00000155816	ENST00000319653	T	0.59224	0.28	4.33	3.41	0.39046	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.76190	0.3953	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78135	-0.2322	8	.	.	.	.	10.3028	0.43663	0.0925:0.0:0.9075:0.0	.	1214	Q9NZ56	FMN2_HUMAN	C	1214	ENSP00000318884:G1214C	.	G	+	1	0	FMN2	238438375	1.000000	0.71417	0.969000	0.41365	0.875000	0.50365	4.418000	0.59828	1.014000	0.39417	0.472000	0.43445	GGT		0.647	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	25	1	0	8.13e-05	0.000168647	6	25				
KIF26B	55083	broad.mit.edu	37	1	245848773	245848773	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:245848773C>T	ENST00000407071.2	+	12	2928	c.2488C>T	c.(2488-2490)Ctg>Ttg	p.L830L	KIF26B_ENST00000366518.4_Silent_p.L449L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	830					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCCACCCAGCTGAGACCCTT	0.642																																						uc001ibf.1		NA																	0				ovary(3)	3						c.(2488-2490)CTG>TTG		kinesin family member 26B							55.0	63.0	60.0					1																	245848773		2187	4263	6450	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245848773C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2488C>T	1.37:g.245848773C>T						KIF26B_uc001ibg.1_Silent_p.L448L|KIF26B_uc001ibh.1_Silent_p.L72L	p.L830L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	2928	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		830					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2488C>T	CCDS44342.1																																																																																				0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		10	42	0	0	0	0	10	42				
OR2T11	127077	broad.mit.edu	37	1	248789867	248789867	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:248789867T>A	ENST00000330803.2	-	1	624	c.563A>T	c.(562-564)gAc>gTc	p.D188V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAGGACGTGTCTGCACAGGC	0.478																																						uc001ier.1		NA																	0				lung(1)	1						c.(562-564)GAC>GTC		olfactory receptor, family 2, subfamily T,							72.0	74.0	73.0					1																	248789867		2052	4236	6288	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789867T>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.563A>T	1.37:g.248789867T>A	ENSP00000328934:p.Asp188Val						p.D188V	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	563	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		188			Extracellular (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.563A>T	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.628459	0.28978	.	.	ENSG00000183130	ENST00000330803	T	0.00262	8.4	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000317	T	0.00784	0.0026	H	0.94620	3.56	0.43642	D	0.996041	D	0.89917	1.0	D	0.79784	0.993	T	0.56709	-0.7934	10	0.87932	D	0	.	12.6039	0.56513	0.0:0.0:0.0:1.0	.	188	Q8NH01	O2T11_HUMAN	V	188	ENSP00000328934:D188V	ENSP00000328934:D188V	D	-	2	0	OR2T11	246856490	0.057000	0.20700	0.966000	0.40874	0.016000	0.09150	2.170000	0.42443	1.791000	0.52520	0.533000	0.62120	GAC		0.478	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		32	30	0	0	0	0	32	30				
KIN	22944	broad.mit.edu	37	10	7808047	7808047	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:7808047C>G	ENST00000379562.4	-	9	865	c.818G>C	c.(817-819)aGa>aCa	p.R273T	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Missense_Mutation_p.R167T|KIN_ENST00000535925.1_Missense_Mutation_p.R273T	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCGGGCAGTTCTTTTCTTTTC	0.328																																						uc001ijt.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(817-819)AGA>ACA		HsKin17 protein							101.0	93.0	95.0					10																	7808047		2203	4297	6500	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7808047C>G	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.818G>C	10.37:g.7808047C>G	ENSP00000368881:p.Arg273Thr					KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.R273T|KIN_uc010qba.1_Missense_Mutation_p.R167T	p.R273T	NM_012311	NP_036443	O60870	KIN17_HUMAN			9	866	-			273			Potential.			Missense_Mutation	SNP	ENST00000379562.4	37	c.818G>C	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534779	0.45073	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	6.06	5.06	0.68205	.	0.095476	0.85682	D	0.000000	T	0.43831	0.1265	L	0.35542	1.07	0.42193	D	0.991733	B;B;B	0.29301	0.241;0.016;0.079	B;B;B	0.27500	0.08;0.015;0.035	T	0.44251	-0.9340	9	0.56958	D	0.05	-35.7954	8.5372	0.33371	0.0:0.8341:0.0:0.1659	.	167;273;273	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	T	273;273;167	.	ENSP00000368881:R273T	R	-	2	0	KIN	7848053	1.000000	0.71417	0.966000	0.40874	0.928000	0.56348	1.941000	0.40233	2.882000	0.98803	0.655000	0.94253	AGA		0.328	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		6	42	0	0	0	0	6	42				
ITGA8	8516	broad.mit.edu	37	10	15688977	15688977	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:15688977G>T	ENST00000378076.3	-	12	1428	c.1075C>A	c.(1075-1077)Caa>Aaa	p.Q359K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	359					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGGTAGATTTGCCCTACTTCT	0.502																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(1075-1077)CAA>AAA		integrin, alpha 8 precursor							128.0	114.0	119.0					10																	15688977		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15688977G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1075C>A	10.37:g.15688977G>T	ENSP00000367316:p.Gln359Lys					ITGA8_uc010qcb.1_Missense_Mutation_p.Q344K	p.Q359K	NM_003638	NP_003629	P53708	ITA8_HUMAN			12	1075	-			359			Extracellular (Potential).|FG-GAP 5.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1075C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244659	0.39697	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.67698	-0.28	5.35	4.43	0.53597	.	0.342854	0.33938	N	0.004416	T	0.49762	0.1576	L	0.28776	0.89	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.12156	0.004;0.007	T	0.26292	-1.0107	10	0.05833	T	0.94	.	12.9751	0.58532	0.0:0.0:0.7055:0.2945	.	344;359	F5H818;P53708	.;ITA8_HUMAN	K	359;344	ENSP00000367316:Q359K	ENSP00000367316:Q359K	Q	-	1	0	ITGA8	15728983	1.000000	0.71417	0.341000	0.25589	0.995000	0.86356	5.313000	0.65798	1.201000	0.43203	0.563000	0.77884	CAA		0.502	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		18	101	1	0	5.04e-11	1.2e-10	18	101				
ARHGAP21	57584	broad.mit.edu	37	10	24896427	24896427	+	Splice_Site	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:24896427C>T	ENST00000396432.2	-	11	3171		c.e11+1		ARHGAP21_ENST00000493154.1_Splice_Site|ARHGAP21_ENST00000320481.6_Splice_Site	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCGAGACTTACAATTTTGCAT	0.388																																						uc001isb.2		NA																	0				ovary(7)|pancreas(1)	8						c.e11+1		Rho GTPase activating protein 21							107.0	106.0	107.0					10																	24896427		2203	4300	6503	SO:0001630	splice_region_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24896427C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2684+1G>A	10.37:g.24896427C>T						ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.L895_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.L730_splice	p.L895_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN			11	3171	-								Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000396432.2	37	c.2684_splice	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539876	0.85917	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0769	0.97748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP21	24936433	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.439000	0.80444	2.820000	0.97059	0.650000	0.86243	.		0.388	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	Intron	7	73	0	0	0	0	7	73				
ANKRD30A	91074	broad.mit.edu	37	10	37508752	37508752	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:37508752A>T	ENST00000602533.1	+	34	4043	c.3944A>T	c.(3943-3945)gAg>gTg	p.E1315V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1315V|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1434V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1371					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAAAATGAGGAGATATTT	0.274																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(3943-3945)GAG>GTG		ankyrin repeat domain 30A							22.0	20.0	21.0					10																	37508752		1806	4075	5881	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508752A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3944A>T	10.37:g.37508752A>T	ENSP00000473551:p.Glu1315Val						p.E1315V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	4043	+			1371					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3944A>T		.	.	.	.	.	.	.	.	.	.	a	13.90	2.374249	0.42105	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14766	2.48;2.48	2.95	2.95	0.34219	.	.	.	.	.	T	0.10937	0.0267	L	0.48642	1.525	0.22926	N	0.99855	P	0.49185	0.92	B	0.34652	0.187	T	0.18777	-1.0326	9	0.72032	D	0.01	.	9.0203	0.36195	1.0:0.0:0.0:0.0	.	1371	Q9BXX3	AN30A_HUMAN	V	1315;1434	ENSP00000354432:E1315V;ENSP00000363792:E1434V	ENSP00000354432:E1315V	E	+	2	0	ANKRD30A	37548758	1.000000	0.71417	0.179000	0.23059	0.004000	0.04260	5.389000	0.66255	1.205000	0.43262	0.386000	0.25728	GAG		0.274	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	12	0	0	0	0	5	12				
C10orf71	118461	broad.mit.edu	37	10	50532083	50532083	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:50532083G>C	ENST00000374144.3	+	3	1781	c.1493G>C	c.(1492-1494)aGc>aCc	p.S498T	C10orf71_ENST00000323868.4_Missense_Mutation_p.S498T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	498										endometrium(1)	1						AAAGCCCCTAGCCTGCTGTTC	0.512																																						uc010qgp.1		NA																	0					0						c.(1492-1494)AGC>ACC		hypothetical protein LOC118461 isoform 2							39.0	42.0	41.0					10																	50532083		2063	4203	6266	SO:0001583	missense	118461							g.chr10:50532083G>C	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1493G>C	10.37:g.50532083G>C	ENSP00000363259:p.Ser498Thr						p.S498T	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	1832	+			498					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1493G>C	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711944	0.89112	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.23754	1.89;3.03	5.57	5.57	0.84162	.	0.000000	0.46442	D	0.000281	T	0.51398	0.1672	M	0.62723	1.935	0.47153	D	0.999339	D	0.89917	1.0	D	0.76575	0.988	T	0.50931	-0.8769	10	0.87932	D	0	.	19.6098	0.95600	0.0:0.0:1.0:0.0	.	498	Q711Q0-3	.	T	498	ENSP00000318713:S498T;ENSP00000363259:S498T	ENSP00000318713:S498T	S	+	2	0	C10orf71	50202089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.629000	0.89072	0.650000	0.86243	AGC		0.512	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		4	20	0	0	0	0	4	20				
TET1	80312	broad.mit.edu	37	10	70450631	70450631	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:70450631G>T	ENST00000373644.4	+	12	5680	c.5471G>T	c.(5470-5472)aGt>aTt	p.S1824I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1824					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATCTTAAAAAGTTCAGACAAC	0.453																																						uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5470-5472)AGT>ATT		CXXC finger 6							92.0	94.0	93.0					10																	70450631		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70450631G>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5471G>T	10.37:g.70450631G>T	ENSP00000362748:p.Ser1824Ile						p.S1824I	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			12	5976	+			1824					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.5471G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724892	0.30593	.	.	ENSG00000138336	ENST00000373644	T	0.06933	3.24	5.01	0.784	0.18578	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	1.622110	0.03398	N	0.202878	T	0.08403	0.0209	L	0.42245	1.32	0.20563	N	0.999886	B	0.24186	0.099	B	0.25884	0.064	T	0.37150	-0.9718	10	0.42905	T	0.14	.	1.4669	0.02408	0.3426:0.1441:0.3824:0.1309	.	1824	Q8NFU7	TET1_HUMAN	I	1824	ENSP00000362748:S1824I	ENSP00000362748:S1824I	S	+	2	0	TET1	70120637	0.996000	0.38824	0.986000	0.45419	0.925000	0.55904	0.388000	0.20735	0.117000	0.18138	-0.182000	0.12963	AGT		0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		14	68	1	0	9.31e-06	2e-05	14	68				
SRGN	5552	broad.mit.edu	37	10	70847958	70847958	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:70847958T>C	ENST00000242465.3	+	1	85	c.45T>C	c.(43-45)ctT>ctC	p.L15L	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	15					biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						TCCTGGCTCTTGCCCTCATCC	0.493																																						uc001joz.2		NA																	0					0						c.(43-45)CTT>CTC		serglycin precursor							207.0	171.0	183.0					10																	70847958		2203	4300	6503	SO:0001819	synonymous_variant	5552				apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen		g.chr10:70847958T>C	BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"""Proteoglycans / Extracellular Matrix : Other"""	9361	protein-coding gene	gene with protein product	"""serglycin proteoglycan"""	177040	"""proteoglycan 1, secretory granule"""	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.45T>C	10.37:g.70847958T>C						SRGN_uc001jpa.1_RNA	p.L15L	NM_002727	NP_002718	P10124	SRGN_HUMAN			1	131	+			15					B2R4L7|Q5VW06	Silent	SNP	ENST00000242465.3	37	c.45T>C	CCDS7285.1																																																																																				0.493	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048379.1	NM_002727		17	69	0	0	0	0	17	69				
ANXA11	311	broad.mit.edu	37	10	81915641	81915641	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:81915641T>A	ENST00000438331.1	-	17	1968	c.1486A>T	c.(1486-1488)Att>Ttt	p.I496F	ANXA11_ENST00000535999.1_Missense_Mutation_p.I496F|ANXA11_ENST00000372231.3_Missense_Mutation_p.I496F|ANXA11_ENST00000422982.3_Missense_Mutation_p.I496F|ANXA11_ENST00000265447.4_Missense_Mutation_p.I496F|ANXA11_ENST00000360615.4_Missense_Mutation_p.I496F|ANXA11_ENST00000537102.1_Missense_Mutation_p.I463F	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	496					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCAGCAGAATCTTCCGGTAA	0.517																																						uc001kbq.1		NA																	0				ovary(1)	1						c.(1486-1488)ATT>TTT		annexin A11							180.0	162.0	168.0					10																	81915641		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81915641T>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1486A>T	10.37:g.81915641T>A	ENSP00000398610:p.Ile496Phe					ANXA11_uc010qlx.1_Missense_Mutation_p.I596F|ANXA11_uc001kbr.1_Missense_Mutation_p.I496F|ANXA11_uc001kbs.1_Missense_Mutation_p.I496F|ANXA11_uc001kbt.1_Missense_Mutation_p.I496F|ANXA11_uc010qly.1_Missense_Mutation_p.I463F|ANXA11_uc009xsq.1_Missense_Mutation_p.I500F|ANXA11_uc001kbu.1_Missense_Mutation_p.I496F	p.I496F	NM_145869	NP_665876	P50995	ANX11_HUMAN	Colorectal(32;0.109)		17	2311	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		496			Annexin 4.		B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.1486A>T	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220895	0.79464	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.03301	3.98;3.98;3.98;3.98;3.98;3.98;3.98	5.51	5.51	0.81932	Annexin repeat, conserved site (1);	0.123061	0.53938	D	0.000049	T	0.07728	0.0194	N	0.12637	0.245	0.51233	D	0.999916	D;D;D	0.67145	0.996;0.984;0.984	D;P;P	0.70487	0.969;0.903;0.903	T	0.47433	-0.9118	10	0.59425	D	0.04	.	13.8881	0.63721	0.0:0.0:0.0:1.0	.	596;496;496	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	F	496;496;496;496;496;496;496;403;463	ENSP00000361305:I496F;ENSP00000404412:I496F;ENSP00000398610:I496F;ENSP00000353827:I496F;ENSP00000265447:I496F;ENSP00000441748:I496F;ENSP00000441400:I463F	ENSP00000265447:I496F	I	-	1	0	ANXA11	81905621	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.295000	0.59049	2.243000	0.73865	0.533000	0.62120	ATT		0.517	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		36	117	0	0	0	0	36	117				
SLC16A12	387700	broad.mit.edu	37	10	91193071	91193071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:91193071T>A	ENST00000341233.4	-	8	1601	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.D434V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	404						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GCCGGTGGTATCTACCAGCCG	0.368																																						uc001kgm.2		NA																	0				skin(1)	1						c.(1210-1212)GAT>GTT		solute carrier family 16 (monocarboxylic acid							43.0	45.0	44.0					10																	91193071		2203	4300	6503	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91193071T>A		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1211A>T	10.37:g.91193071T>A	ENSP00000343022:p.Asp404Val					SLC16A12_uc001kgl.2_Missense_Mutation_p.D76V	p.D404V	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN			8	1602	-			404			Cytoplasmic (Potential).		Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.1211A>T		.	.	.	.	.	.	.	.	.	.	T	23.0	4.365740	0.82463	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.39056	1.1;1.1	5.77	5.77	0.91146	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78026	-0.2365	10	0.87932	D	0	.	15.2764	0.73745	0.0:0.0:0.0:1.0	.	404	Q6ZSM3	MOT12_HUMAN	V	404;434	ENSP00000343022:D404V;ENSP00000360855:D434V	ENSP00000343022:D404V	D	-	2	0	SLC16A12	91183051	1.000000	0.71417	0.841000	0.33234	0.927000	0.56198	7.312000	0.78968	2.204000	0.70986	0.383000	0.25322	GAT		0.368	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		8	31	0	0	0	0	8	31				
ZNF518A	9849	broad.mit.edu	37	10	97916167	97916167	+	RNA	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:97916167A>C	ENST00000534948.1	+	0	945							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GATAGTTGATAGGTCGGCACC	0.279																																						uc001klp.2		NA																	0				ovary(1)	1						c.(88-90)AGG>CGG		zinc finger protein 518							43.0	44.0	44.0					10																	97916167		1801	4057	5858			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97916167A>C	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916167A>C						ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Silent_p.R30R|ZNF518A_uc001klr.2_Silent_p.R30R	p.R30R	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	945	+		Colorectal(252;0.0815)	30					A0PJI5|O15044|Q32MP4	Silent	SNP	ENST00000534948.1	37	c.88A>C																																																																																					0.279	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		11	49	0	0	0	0	11	49				
SEC31B	25956	broad.mit.edu	37	10	102267289	102267289	+	Silent	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:102267289T>A	ENST00000370345.3	-	7	772	c.675A>T	c.(673-675)atA>atT	p.I225I	SEC31B_ENST00000370329.5_Silent_p.I228I|SEC31B_ENST00000451524.1_Silent_p.I225I|SEC31B_ENST00000535773.1_Silent_p.I68I|NDUFB8_ENST00000557395.1_3'UTR|NDUFB8_ENST00000531258.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	225					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTGGGTGGCTATGTCAGGAT	0.557																																						uc001krc.1		NA																	0				ovary(1)	1						c.(673-675)ATA>ATT		SEC31 homolog B							134.0	105.0	114.0					10																	102267289		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102267289T>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.675A>T	10.37:g.102267289T>A						SEC31B_uc010qpo.1_Silent_p.I224I|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_Intron|SEC31B_uc010qpp.1_Silent_p.I228I|SEC31B_uc009xwn.1_Silent_p.I225I|SEC31B_uc009xwo.1_Silent_p.I225I|SEC31B_uc010qpq.1_Silent_p.I68I|SEC31B_uc010qpr.1_RNA	p.I225I	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	7	777	-		Colorectal(252;0.117)	225			WD 4.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.675A>T	CCDS7495.1																																																																																				0.557	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		18	58	0	0	0	0	18	58				
NEURL1	9148	broad.mit.edu	37	10	105349976	105349976	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:105349976C>T	ENST00000369780.4	+	6	1981	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.C507C	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		524					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCACCATTTGCTATGAACACG	0.632																																						uc001kxh.2		NA																	0					0						c.(1570-1572)TGC>TGT		neuralized-like							141.0	115.0	124.0					10																	105349976		2203	4300	6503	SO:0001819	synonymous_variant	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105349976C>T																												ENST00000369780.4:c.1572C>T	10.37:g.105349976C>T						SH3PXD2A_uc010qqr.1_Intron	p.C524C	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	1982	+			524			RING-type.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.1572C>T	CCDS7551.1																																																																																				0.632	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			14	75	0	0	0	0	14	75				
MXI1	4601	broad.mit.edu	37	10	112039820	112039820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:112039820C>T	ENST00000239007.7	+	5	718	c.500C>T	c.(499-501)tCa>tTa	p.S167L	MXI1_ENST00000332674.5_Missense_Mutation_p.S234L|MXI1_ENST00000361248.4_Missense_Mutation_p.S121L|MXI1_ENST00000369612.1_Missense_Mutation_p.S131L|MXI1_ENST00000393134.1_Missense_Mutation_p.S157L|MXI1_ENST00000485566.1_3'UTR	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	167					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ACTATTTCTTCAGATCGTTCT	0.448																																						uc001kza.2		NA																	0					0						c.(499-501)TCA>TTA		MAX interactor 1 isoform a							111.0	101.0	104.0					10																	112039820		2203	4300	6503	SO:0001583	missense	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:112039820C>T	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.500C>T	10.37:g.112039820C>T	ENSP00000239007:p.Ser167Leu					MXI1_uc001kyy.2_Missense_Mutation_p.S234L|MXI1_uc001kyz.2_Missense_Mutation_p.S121L|MXI1_uc010qrc.1_Missense_Mutation_p.S157L|MXI1_uc009xxu.2_Missense_Mutation_p.S164L|MXI1_uc009xxv.2_RNA	p.S167L	NM_005962	NP_005953	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	5	707	+		Breast(234;0.052)|Lung NSC(174;0.223)	167					B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Missense_Mutation	SNP	ENST00000239007.7	37	c.500C>T	CCDS7564.2	.	.	.	.	.	.	.	.	.	.	C	30	5.054862	0.93793	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000369612	T;T;T;T;T;T	0.59364	1.57;0.27;1.57;1.57;1.57;1.57	5.6	5.6	0.85130	.	0.058153	0.64402	D	0.000001	T	0.72859	0.3513	M	0.66297	2.02	0.58432	D	0.999998	B;P;P;D	0.59767	0.267;0.617;0.919;0.986	B;B;B;P	0.58660	0.058;0.173;0.297;0.843	T	0.74728	-0.3567	10	0.87932	D	0	-20.2561	19.9853	0.97342	0.0:1.0:0.0:0.0	.	157;131;167;234	B1ANN8;P50539-2;P50539;P50539-3	.;.;MXI1_HUMAN;.	L	234;224;121;167;157;157;131;131;131	ENSP00000331152:S234L;ENSP00000398981:S224L;ENSP00000354606:S121L;ENSP00000239007:S167L;ENSP00000376842:S157L;ENSP00000358625:S131L	ENSP00000239007:S167L	S	+	2	0	MXI1	112029810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.010000	0.70753	2.805000	0.96524	0.650000	0.86243	TCA		0.448	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		9	43	0	0	0	0	9	43				
TECTB	6975	broad.mit.edu	37	10	114053774	114053774	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:114053774C>T	ENST00000369422.3	+	6	626	c.626C>T	c.(625-627)tCg>tTg	p.S209L		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	209	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S209*(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCCACCCCCTCGGCTGACTTC	0.468																																						uc001kzr.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(625-627)TCG>TTG		tectorin beta precursor							93.0	93.0	93.0					10																	114053774		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114053774C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.626C>T	10.37:g.114053774C>T	ENSP00000358430:p.Ser209Leu						p.S209L	NM_058222	NP_478129	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	6	626	+		Colorectal(252;0.198)	209			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.626C>T	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793572	0.90453	.	.	ENSG00000119913	ENST00000369422	D	0.83591	-1.74	5.67	5.67	0.87782	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.120287	0.64402	D	0.000018	D	0.87334	0.6151	M	0.79614	2.46	0.52501	D	0.999955	D	0.59357	0.985	P	0.48873	0.593	D	0.88669	0.3194	10	0.66056	D	0.02	.	18.3222	0.90242	0.0:1.0:0.0:0.0	.	209	Q96PL2	TECTB_HUMAN	L	209	ENSP00000358430:S209L	ENSP00000358430:S209L	S	+	2	0	TECTB	114043764	0.996000	0.38824	0.936000	0.37596	0.875000	0.50365	6.303000	0.72794	2.836000	0.97738	0.655000	0.94253	TCG		0.468	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		19	44	0	0	0	0	19	44				
VAX1	11023	broad.mit.edu	37	10	118896129	118896129	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:118896129G>A	ENST00000369206.5	-	2	282	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	VAX1_ENST00000277905.2_Silent_p.L95L	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	95					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCCAAGTCCAGGCCCTTGGGC	0.657																																						uc009xyx.2		NA																	0				ovary(2)	2						c.(283-285)CTG>TTG		ventral anterior homeobox 1 isoform a							52.0	46.0	48.0					10																	118896129		2203	4299	6502	SO:0001819	synonymous_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118896129G>A	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.283C>T	10.37:g.118896129G>A						VAX1_uc001ldb.1_Silent_p.L95L	p.L95L	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	528	-			95					B1AVW5|Q6ZSX0	Silent	SNP	ENST00000369206.5	37	c.283C>T	CCDS44483.1																																																																																				0.657	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		17	57	0	0	0	0	17	57				
NSMCE4A	54780	broad.mit.edu	37	10	123730454	123730454	+	Splice_Site	SNP	T	T	A	rs139294636	byFrequency	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr10:123730454T>A	ENST00000369023.3	-	3	552	c.501A>T	c.(499-501)ctA>ctT	p.L167L	NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000369017.5_Splice_Site_p.L167L|NSMCE4A_ENST00000538652.1_Splice_Site_p.L8L	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	167					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTGAACTTACTAGAGTTTCAA	0.358																																						uc001lfs.2		NA																	0					0						c.(499-501)CTA>CTT		non-SMC element 4 homolog A							51.0	50.0	50.0					10																	123730454		2203	4300	6503	SO:0001630	splice_region_variant	54780							g.chr10:123730454T>A	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.501+1A>T	10.37:g.123730454T>A						NSMCE4A_uc009xzv.2_Silent_p.L167L|NSMCE4A_uc001lft.2_Silent_p.L8L|NSMCE4A_uc010qtu.1_Silent_p.L8L|NSMCE4A_uc001lfu.1_Silent_p.L167L	p.L167L	NM_017615	NP_060085	Q9NXX6	NSE4A_HUMAN			3	531	-		all_neural(114;0.138)|Glioma(114;0.222)	167					Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Silent	SNP	ENST00000369023.3	37	c.501A>T	CCDS7624.1																																																																																				0.358	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	NM_017615	Silent	5	19	0	0	0	0	5	19				
PTDSS2	81490	broad.mit.edu	37	11	489914	489914	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:489914T>C	ENST00000308020.5	+	11	1323	c.1147T>C	c.(1147-1149)Tgg>Cgg	p.W383R		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	383					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCCGCAGGCCTGGCTGGTGGC	0.692																																						uc001lpj.2		NA																	0					0						c.(1147-1149)TGG>CGG		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						40.0	25.0	30.0					11																	489914		2194	4294	6488	SO:0001583	missense	81490					integral to membrane		g.chr11:489914T>C	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1147T>C	11.37:g.489914T>C	ENSP00000308258:p.Trp383Arg						p.W383R	NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	11	1323	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	383			Helical; (Potential).			Missense_Mutation	SNP	ENST00000308020.5	37	c.1147T>C	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912938	0.52439	.	.	ENSG00000174915	ENST00000308020	.	.	.	2.95	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84783	0.0774	9	0.87932	D	0	-10.2669	12.0936	0.53742	0.0:0.0:0.0:1.0	.	383	Q9BVG9	PTSS2_HUMAN	R	383	.	ENSP00000308258:W383R	W	+	1	0	PTDSS2	479914	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	7.455000	0.80726	1.610000	0.50200	0.260000	0.18958	TGG		0.692	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			5	17	0	0	0	0	5	17				
HBD	3045	broad.mit.edu	37	11	5255583	5255583	+	Missense_Mutation	SNP	C	C	A	rs34289459		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5255583C>A	ENST00000380299.3	-	1	295	c.81G>T	c.(79-81)gaG>gaT	p.E27D	HBD_ENST00000292901.3_Missense_Mutation_p.E27D	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	27			E -> D (in Puglia; dbSNP:rs34289459). {ECO:0000269|PubMed:8401543}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCAGGGCCTCACCACCAA	0.517																																						uc001maf.1		NA																	0				ovary(1)	1	GRCh37	CM930385	HBD	M	rs34289459	c.(79-81)GAG>GAT		delta globin							159.0	138.0	145.0					11																	5255583		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255583C>A	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.81G>T	11.37:g.5255583C>A	ENSP00000369654:p.Glu27Asp						p.E27D	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	276	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	27					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.81G>T	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628001	0.46944	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000417377;ENST00000429817	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	4.49	0.483	0.16820	Globin-like (1);Globin, structural domain (1);	0.350897	0.32287	N	0.006314	D	0.84106	0.5399	M	0.67397	2.05	0.31942	N	0.610741	B	0.30406	0.278	B	0.38458	0.274	T	0.80453	-0.1376	10	0.87932	D	0	-4.8069	4.2492	0.10686	0.1555:0.4043:0.0:0.4402	.	27	P02042	HBD_HUMAN	D	27	ENSP00000292901:E27D;ENSP00000369654:E27D;ENSP00000414741:E27D;ENSP00000393810:E27D	ENSP00000292901:E27D	E	-	3	2	HBD	5212159	0.000000	0.05858	0.545000	0.28153	0.985000	0.73830	-1.880000	0.01627	0.004000	0.14682	0.591000	0.81541	GAG		0.517	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		28	67	1	0	3.8e-20	9.55e-20	28	67				
OR51Q1	390061	broad.mit.edu	37	11	5443979	5443979	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5443979C>A	ENST00000300778.4	+	1	639	c.549C>A	c.(547-549)caC>caA	p.H183Q	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCTCCACCAGGATATGA	0.512																																						uc010qzd.1		NA																	0				ovary(1)	1						c.(547-549)CAC>CAA		olfactory receptor, family 51, subfamily Q,							184.0	173.0	176.0					11																	5443979		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443979C>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.549C>A	11.37:g.5443979C>A	ENSP00000300778:p.His183Gln					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.H183Q	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	549	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	183			Extracellular (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.549C>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866736	0.51588	.	.	ENSG00000167360	ENST00000300778	T	0.00115	8.71	5.0	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.00695	0.0023	H	0.97291	3.975	0.42608	D	0.993308	D	0.89917	1.0	D	0.91635	0.999	T	0.53507	-0.8429	10	0.87932	D	0	.	9.8256	0.40910	0.0:0.7633:0.0:0.2367	.	183	Q8NH59	O51Q1_HUMAN	Q	183	ENSP00000300778:H183Q	ENSP00000300778:H183Q	H	+	3	2	OR51Q1	5400555	0.000000	0.05858	1.000000	0.80357	0.557000	0.35523	-0.228000	0.09114	0.703000	0.31848	0.380000	0.24917	CAC		0.512	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		51	168	1	0	2.75e-27	6.99e-27	51	168				
OR52B6	340980	broad.mit.edu	37	11	5602224	5602224	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:5602224C>G	ENST00000345043.2	+	1	118	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507																																						uc010qzi.1		NA																	0				ovary(1)	1						c.(118-120)CTG>GTG		olfactory receptor, family 52, subfamily B,							100.0	101.0	101.0					11																	5602224		2155	4271	6426	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602224C>G	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.118C>G	11.37:g.5602224C>G	ENSP00000341581:p.Leu40Val					HBG2_uc001mak.1_Intron	p.L40V	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	118	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	40			Extracellular (Potential).		Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.118C>G	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585760	0.66105	.	.	ENSG00000187747	ENST00000345043	T	0.00473	7.18	5.15	5.15	0.70609	.	0.253138	0.20253	U	0.096027	T	0.00998	0.0033	M	0.84156	2.68	0.26715	N	0.970883	D	0.56035	0.974	P	0.51701	0.677	T	0.38950	-0.9637	10	0.87932	D	0	.	11.0948	0.48137	0.1844:0.8156:0.0:0.0	.	40	Q8NGF0	O52B6_HUMAN	V	40	ENSP00000341581:L40V	ENSP00000341581:L40V	L	+	1	2	OR52B6	5558800	0.001000	0.12720	1.000000	0.80357	0.929000	0.56500	-0.357000	0.07651	2.673000	0.90976	0.650000	0.86243	CTG		0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		7	59	0	0	0	0	7	59				
ILK	3611	broad.mit.edu	37	11	6629415	6629415	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6629415C>A	ENST00000396751.2	+	2	685	c.229C>A	c.(229-231)Cat>Aat	p.H77N	ILK_ENST00000299421.4_Missense_Mutation_p.H77N|ILK_ENST00000528995.1_Missense_Mutation_p.H77N|ILK_ENST00000420936.2_Missense_Mutation_p.H77N|ILK_ENST00000537806.1_Intron|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	77	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGCAGCCAGTCATGGACACCG	0.527																																						uc001mee.2		NA																	0				central_nervous_system(1)	1						c.(229-231)CAT>AAT		integrin-linked kinase							96.0	86.0	89.0					11																	6629415		2201	4296	6497	SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6629415C>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.229C>A	11.37:g.6629415C>A	ENSP00000379975:p.His77Asn					ILK_uc001mef.2_Missense_Mutation_p.H77N|ILK_uc010rap.1_Intron|ILK_uc010raq.1_Missense_Mutation_p.H77N|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Missense_Mutation_p.H77N|ILK_uc001mei.2_5'Flank	p.H77N	NM_001014794	NP_001014794	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	3	364	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	77			Interaction with LIMS1.|ANK 3.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.229C>A	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284074	0.80803	.	.	ENSG00000166333	ENST00000299421;ENST00000420936;ENST00000528995;ENST00000396751	T;T;T;T	0.69175	-0.38;-0.38;0.0;-0.38	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	N	0.05158	-0.105	0.80722	D	1	P;D	0.76494	0.949;0.999	P;D	0.74348	0.884;0.983	T	0.64892	-0.6300	10	0.18710	T	0.47	.	18.7489	0.91806	0.0:1.0:0.0:0.0	.	77;77	B7Z418;Q13418	.;ILK_HUMAN	N	77	ENSP00000299421:H77N;ENSP00000403487:H77N;ENSP00000435323:H77N;ENSP00000379975:H77N	ENSP00000299421:H77N	H	+	1	0	ILK	6585991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.339000	0.79282	2.686000	0.91538	0.561000	0.74099	CAT		0.527	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		8	74	1	0	2.18e-05	4.62e-05	8	74				
DCHS1	8642	broad.mit.edu	37	11	6662065	6662065	+	Silent	SNP	G	G	A	rs144400127		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6662065G>A	ENST00000299441.3	-	2	1191	c.780C>T	c.(778-780)taC>taT	p.Y260Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAGCATGGTAGCGGCTCT	0.602																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(778-780)TAC>TAT		dachsous 1 precursor		G		0,4402		0,0,2201	81.0	84.0	83.0		780	0.7	1.0	11	dbSNP_134	83	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	DCHS1	NM_003737.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		260/3299	6662065	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662065G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.780C>T	11.37:g.6662065G>A							p.Y260Y	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1190	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	260			Extracellular (Potential).|Cadherin 3.		O15098	Silent	SNP	ENST00000299441.3	37	c.780C>T	CCDS7771.1																																																																																				0.602	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		16	113	0	0	0	0	16	113				
DCHS1	8642	broad.mit.edu	37	11	6662629	6662629	+	Silent	SNP	C	C	G	rs201952528		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:6662629C>G	ENST00000299441.3	-	2	627	c.216G>C	c.(214-216)acG>acC	p.T72T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGAGCTGCCGTGCCTGCCG	0.632																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(214-216)ACG>ACC		dachsous 1 precursor							29.0	28.0	29.0					11																	6662629		2201	4295	6496	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662629C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.216G>C	11.37:g.6662629C>G							p.T72T	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	626	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	72			Cadherin 1.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.216G>C	CCDS7771.1																																																																																				0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	18	0	0	0	0	9	18				
INSC	387755	broad.mit.edu	37	11	15262059	15262059	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:15262059T>G	ENST00000379554.3	+	12	1647	c.1601T>G	c.(1600-1602)gTg>gGg	p.V534G	INSC_ENST00000530161.1_Missense_Mutation_p.V487G|INSC_ENST00000528567.1_Missense_Mutation_p.V487G|INSC_ENST00000525218.1_Missense_Mutation_p.V445G|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.V445G|INSC_ENST00000379556.3_Missense_Mutation_p.V487G	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	534					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCCGTGCTTGTGGCCTGCCTG	0.622																																						uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1600-1602)GTG>GGG		inscuteable isoform a							62.0	67.0	65.0					11																	15262059		2038	4195	6233	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15262059T>G	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1601T>G	11.37:g.15262059T>G	ENSP00000368872:p.Val534Gly					INSC_uc001mlz.2_Missense_Mutation_p.V487G|INSC_uc001mma.2_Missense_Mutation_p.V487G|INSC_uc010rcs.1_Missense_Mutation_p.V522G|INSC_uc001mmb.2_Missense_Mutation_p.V487G|INSC_uc001mmc.2_Missense_Mutation_p.V445G	p.V534G	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			12	1647	+			534					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1601T>G	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419374	0.83559	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.75;0.74;0.74	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69533	-0.5120	10	0.87932	D	0	-29.4271	15.041	0.71791	0.0:0.0:0.0:1.0	.	522;445;487;534	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	G	534;487;445;487;487;445	ENSP00000368872:V534G;ENSP00000368874:V487G;ENSP00000389161:V445G;ENSP00000435022:V487G;ENSP00000436194:V487G;ENSP00000436113:V445G	ENSP00000368872:V534G	V	+	2	0	INSC	15218635	1.000000	0.71417	0.993000	0.49108	0.903000	0.53119	6.788000	0.75105	2.205000	0.71048	0.528000	0.53228	GTG		0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		3	32	0	0	0	0	3	32				
ABCC8	6833	broad.mit.edu	37	11	17428485	17428485	+	Missense_Mutation	SNP	C	C	T	rs367974472		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:17428485C>T	ENST00000389817.3	-	25	3180	c.3112G>A	c.(3112-3114)Gac>Aac	p.D1038N	ABCC8_ENST00000302539.4_Missense_Mutation_p.D1039N			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1038	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGGCGCTGTCGGTCCACTTG	0.652																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(3112-3114)GAC>AAC		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	C	ASN/ASP	0,4400		0,0,2200	63.0	65.0	64.0		3112	5.7	1.0	11		64	1,8585	1.2+/-3.3	0,1,4292	no	missense	ABCC8	NM_000352.3	23	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	benign	1038/1582	17428485	1,12985	2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428485C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3112G>A	11.37:g.17428485C>T	ENSP00000374467:p.Asp1038Asn						p.D1038N	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	25	3238	-			1038			ABC transmembrane type-1 2.|Extracellular (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3112G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	9.213	1.031476	0.19590	0.0	1.16E-4	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.96104	-3.91;-3.91	5.67	5.67	0.87782	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.123617	0.53938	D	0.000052	D	0.88738	0.6518	N	0.16743	0.435	0.09310	N	0.999999	B	0.18310	0.027	B	0.18263	0.021	T	0.69239	-0.5197	10	0.02654	T	1	.	14.0628	0.64810	0.2127:0.7873:0.0:0.0	.	1038	Q09428	ABCC8_HUMAN	N	1038;1039	ENSP00000374467:D1038N;ENSP00000303960:D1039N	ENSP00000303960:D1039N	D	-	1	0	ABCC8	17385061	0.992000	0.36948	0.998000	0.56505	0.892000	0.51952	2.986000	0.49370	2.820000	0.97059	0.655000	0.94253	GAC		0.652	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		27	78	0	0	0	0	27	78				
NELL1	4745	broad.mit.edu	37	11	21135210	21135210	+	Missense_Mutation	SNP	G	G	T	rs368227389		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:21135210G>T	ENST00000357134.5	+	13	1528	c.1376G>T	c.(1375-1377)cGc>cTc	p.R459L	NELL1_ENST00000532434.1_Missense_Mutation_p.R459L|NELL1_ENST00000325319.5_Missense_Mutation_p.R402L|NELL1_ENST00000298925.5_Missense_Mutation_p.R487L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	459	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGTTATATCGCTGTGACTGT	0.398																																						uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1375-1377)CGC>CTC		nel-like 1 isoform 1 precursor							350.0	298.0	316.0					11																	21135210		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21135210G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1376G>T	11.37:g.21135210G>T	ENSP00000349654:p.Arg459Leu					NELL1_uc001mqf.2_Missense_Mutation_p.R459L|NELL1_uc009yid.2_Missense_Mutation_p.R487L|NELL1_uc010rdo.1_Missense_Mutation_p.R402L|NELL1_uc010rdp.1_Missense_Mutation_p.R219L	p.R459L	NM_006157	NP_006148	Q92832	NELL1_HUMAN			13	1529	+			459			EGF-like 2; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1376G>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156326	0.57259	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03	5.29	5.29	0.74685	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	L	0.37800	1.135	0.80722	D	1	D;D;B;P	0.76494	0.996;0.999;0.042;0.704	D;D;B;B	0.85130	0.992;0.997;0.096;0.367	D	0.89277	0.3609	10	0.08381	T	0.77	-23.5568	17.1145	0.86685	0.0:0.0:1.0:0.0	.	402;487;459;459	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	L	487;459;402;459	ENSP00000298925:R487L;ENSP00000349654:R459L;ENSP00000317837:R402L;ENSP00000437170:R459L	ENSP00000298925:R487L	R	+	2	0	NELL1	21091786	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.264000	0.78432	2.470000	0.83445	0.591000	0.81541	CGC		0.398	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		35	82	1	0	7.11e-15	1.75e-14	35	82				
OR4C46	119749	broad.mit.edu	37	11	51515649	51515649	+	Missense_Mutation	SNP	C	C	A	rs370000629		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:51515649C>A	ENST00000328188.1	+	1	368	c.368C>A	c.(367-369)gCc>gAc	p.A123D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CACTATGTGGCCATCTGCAAG	0.478																																						uc010ric.1		NA																	0				ovary(1)	1						c.(367-369)GCC>GAC		olfactory receptor, family 4, subfamily C,							155.0	153.0	154.0					11																	51515649		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515649C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.368C>A	11.37:g.51515649C>A	ENSP00000329056:p.Ala123Asp						p.A123D	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	368	+			123			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.368C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.697515	0.30142	.	.	ENSG00000185926	ENST00000328188	T	0.01234	5.13	2.63	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000362	T	0.14917	0.0360	H	0.99789	4.78	0.34916	D	0.747915	D	0.67145	0.996	D	0.65010	0.931	T	0.31081	-0.9956	10	0.87932	D	0	.	7.8447	0.29419	0.0:0.8639:0.0:0.1361	.	123	A6NHA9	O4C46_HUMAN	D	123	ENSP00000329056:A123D	ENSP00000329056:A123D	A	+	2	0	OR4C46	51372225	1.000000	0.71417	0.991000	0.47740	0.019000	0.09904	7.132000	0.77251	0.458000	0.26988	-1.368000	0.01194	GCC		0.478	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		33	112	1	0	1.63e-12	3.92e-12	33	112				
OR5L2	26338	broad.mit.edu	37	11	55595286	55595286	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:55595286C>A	ENST00000378397.1	+	1	592	c.592C>A	c.(592-594)Ctg>Atg	p.L198M		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GAATGAGACACTGCTGTTCCT	0.448										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(592-594)CTG>ATG		olfactory receptor, family 5, subfamily L,							248.0	212.0	225.0					11																	55595286		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595286C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.592C>A	11.37:g.55595286C>A	ENSP00000367650:p.Leu198Met	HNSCC(27;0.073)					p.L198M	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	592	+		all_epithelial(135;0.208)	198			Helical; Name=5; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.592C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	4.364	0.067084	0.08388	.	.	ENSG00000205030	ENST00000378397	T	0.38887	1.11	5.24	-5.18	0.02840	GPCR, rhodopsin-like superfamily (1);	0.545245	0.15407	N	0.263965	T	0.24624	0.0597	L	0.43598	1.365	0.09310	N	1	B	0.32382	0.368	B	0.32342	0.144	T	0.11717	-1.0576	10	0.49607	T	0.09	-0.5059	2.7135	0.05181	0.2023:0.2236:0.4051:0.169	.	198	Q8NGL0	OR5L2_HUMAN	M	198	ENSP00000367650:L198M	ENSP00000367650:L198M	L	+	1	2	OR5L2	55351862	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-3.230000	0.00548	-0.759000	0.04684	0.632000	0.83419	CTG		0.448	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		46	159	1	0	4.44e-20	1.11e-19	46	159				
OR5AP2	338675	broad.mit.edu	37	11	56409156	56409156	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:56409156C>A	ENST00000302981.1	-	1	759	c.760G>T	c.(760-762)Gtc>Ttc	p.V254F	OR5AP2_ENST00000544374.1_Missense_Mutation_p.V255F	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AATATGGTGACAGCCATGAGG	0.458																																						uc001njb.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(760-762)GTC>TTC		olfactory receptor, family 5, subfamily AP,							126.0	109.0	115.0					11																	56409156		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409156C>A	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.760G>T	11.37:g.56409156C>A	ENSP00000303111:p.Val254Phe						p.V254F	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	760	-			254			Helical; Name=6; (Potential).		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.760G>T	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912106	0.72983	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00354	7.93;7.93	4.8	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000454	T	0.01061	0.0035	M	0.91354	3.2	0.48341	D	0.999635	D	0.89917	1.0	D	0.91635	0.999	T	0.58059	-0.7703	10	0.87932	D	0	.	13.1088	0.59261	0.0:0.9226:0.0:0.0774	.	254	Q8NGF4	O5AP2_HUMAN	F	255;254	ENSP00000442701:V255F;ENSP00000303111:V254F	ENSP00000303111:V254F	V	-	1	0	OR5AP2	56165732	0.184000	0.23200	1.000000	0.80357	0.980000	0.70556	0.691000	0.25467	1.261000	0.44149	0.637000	0.83480	GTC		0.458	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		18	67	1	0	6.94e-10	1.63e-09	18	67				
PRG2	5553	broad.mit.edu	37	11	57155327	57155327	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:57155327T>C	ENST00000311862.5	-	5	583	c.510A>G	c.(508-510)agA>agG	p.R170R	PRG2_ENST00000533605.1_Silent_p.R159R|PRG2_ENST00000525955.1_Silent_p.R170R	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	170	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	ACTGAAAGCGTCTGCAGCGAC	0.627																																						uc001njz.2		NA																	0				central_nervous_system(1)	1						c.(508-510)AGA>AGG		proteoglycan 2 preproprotein	Sargramostim(DB00020)						18.0	18.0	18.0					11																	57155327		2196	4287	6483	SO:0001819	synonymous_variant	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57155327T>C	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.510A>G	11.37:g.57155327T>C						PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.R170R|PRG2_uc001nkb.2_Silent_p.R170R|PRG2_uc001nkd.2_Silent_p.R159R|PRG2_uc001nkc.2_Silent_p.R170R|PRG2_uc001nke.2_Silent_p.R450R	p.R170R	NM_002728	NP_002719	P13727	PRG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	537	-			170			C-type lectin.		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000311862.5	37	c.510A>G	CCDS7955.1																																																																																				0.627	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		7	13	0	0	0	0	7	13				
OR4D10	390197	broad.mit.edu	37	11	59245073	59245073	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:59245073G>T	ENST00000530162.1	+	1	228	c.171G>T	c.(169-171)acG>acT	p.T57T		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTCACACGCCCATGTATT	0.433																																						uc001nnz.1		NA																	0				ovary(2)|skin(1)	3						c.(169-171)ACG>ACT		olfactory receptor, family 4, subfamily D,							193.0	199.0	197.0					11																	59245073		2137	4263	6400	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245073G>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.171G>T	11.37:g.59245073G>T							p.T57T	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	171	+			57			Cytoplasmic (Potential).		B2RNH6	Silent	SNP	ENST00000530162.1	37	c.171G>T	CCDS53636.1																																																																																				0.433	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		38	157	1	0	2.19e-23	5.55e-23	38	157				
USP35	57558	broad.mit.edu	37	11	77920009	77920009	+	Splice_Site	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:77920009G>T	ENST00000529308.1	+	9	1853	c.1592G>T	c.(1591-1593)cGg>cTg	p.R531L	USP35_ENST00000530267.1_Splice_Site_p.R99L|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_Splice_Site_p.R117L|USP35_ENST00000526425.1_Splice_Site_p.R262L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	531	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGCTGGATCGGTAAGGGGGC	0.602																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(1591-1593)CGG>CTG		ubiquitin specific protease 35							44.0	46.0	45.0					11																	77920009		2054	4201	6255	SO:0001630	splice_region_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77920009G>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1592+1G>T	11.37:g.77920009G>T						USP35_uc001oze.2_Missense_Mutation_p.R287L|USP35_uc001ozc.2_Missense_Mutation_p.R99L|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Missense_Mutation_p.R142L|USP35_uc001ozf.2_Missense_Mutation_p.R262L	p.R531L	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		9	1838	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		531						Missense_Mutation	SNP	ENST00000529308.1	37	c.1592G>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630346	0.46944	.	.	ENSG00000118369	ENST00000530267;ENST00000528910;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.36	4.36	0.52297	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.46758	D	0.000271	T	0.48114	0.1482	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43845	-0.9366	10	0.44086	T	0.13	-16.414	17.0788	0.86593	0.0:0.0:1.0:0.0	.	531;117	Q9P2H5;E7EWV7	UBP35_HUMAN;.	L	99;287;531;117;262	ENSP00000435468:R99L;ENSP00000436001:R287L;ENSP00000431876:R531L;ENSP00000400825:R117L;ENSP00000434942:R262L	ENSP00000400825:R117L	R	+	2	0	USP35	77597657	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.263000	0.95617	2.266000	0.75297	0.591000	0.81541	CGG		0.602	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527	Missense_Mutation	9	77	1	0	1.13e-05	2.41e-05	9	77				
PRCP	5547	broad.mit.edu	37	11	82571102	82571102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:82571102C>A	ENST00000313010.3	-	2	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	PRCP_ENST00000393399.2_Missense_Mutation_p.D97Y|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	76					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAGTATTTATCAGCTACTAGG	0.323																																						uc001ozs.2		NA																	0				skin(1)	1						c.(226-228)GAT>TAT		prolylcarboxypeptidase isoform 1 preproprotein							93.0	87.0	89.0					11																	82571102		2203	4299	6502	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82571102C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.226G>T	11.37:g.82571102C>A	ENSP00000317362:p.Asp76Tyr					PRCP_uc001ozr.2_Missense_Mutation_p.D97Y	p.D76Y	NM_005040	NP_005031	P42785	PCP_HUMAN			2	339	-			76					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.226G>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053736	0.55218	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000529671;ENST00000532809	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.51	3.63	0.41609	.	0.262657	0.42172	D	0.000746	T	0.35068	0.0919	M	0.85299	2.745	0.80722	D	1	P;P	0.47302	0.893;0.844	B;P	0.51833	0.434;0.681	T	0.30504	-0.9976	9	.	.	.	-11.8731	12.1638	0.54119	0.0:0.8597:0.0:0.1403	.	76;97	P42785;A8MU24	PCP_HUMAN;.	Y	76;97;35;22	ENSP00000317362:D76Y;ENSP00000377055:D97Y;ENSP00000434771:D35Y;ENSP00000437169:D22Y	.	D	-	1	0	PRCP	82248750	1.000000	0.71417	0.994000	0.49952	0.815000	0.46073	3.799000	0.55529	1.346000	0.45694	-0.339000	0.08088	GAT		0.323	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		5	35	1	0	0.000602214	0.00121657	5	35				
FAT3	120114	broad.mit.edu	37	11	92088407	92088407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:92088407C>A	ENST00000298047.6	+	1	3146	c.3129C>A	c.(3127-3129)ttC>ttA	p.F1043L	FAT3_ENST00000525166.1_Missense_Mutation_p.F893L|FAT3_ENST00000541502.1_Missense_Mutation_p.F1043L|FAT3_ENST00000409404.2_Missense_Mutation_p.F1043L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1043	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCCTATTTCCCAGACTTTG	0.507										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(3127-3129)TTC>TTA		FAT tumor suppressor homolog 3							100.0	98.0	99.0					11																	92088407		1977	4153	6130	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088407C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3129C>A	11.37:g.92088407C>A	ENSP00000298047:p.Phe1043Leu	TCGA Ovarian(4;0.039)					p.F1043L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	3146	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1043			Cadherin 9.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3129C>A		.	.	.	.	.	.	.	.	.	.	C	15.39	2.818631	0.50633	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.62	3.74	0.42951	.	.	.	.	.	D	0.86096	0.5851	M	0.82193	2.58	0.44254	D	0.997108	D	0.76494	0.999	D	0.71184	0.972	D	0.86387	0.1733	9	0.87932	D	0	.	7.7184	0.28719	0.0:0.6825:0.0:0.3175	.	1043	Q8TDW7-3	.	L	1043;1043;1043;893	ENSP00000298047:F1043L;ENSP00000387040:F1043L;ENSP00000443786:F1043L;ENSP00000432586:F893L	ENSP00000298047:F1043L	F	+	3	2	FAT3	91728055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.683000	0.25349	1.392000	0.46585	0.655000	0.94253	TTC		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	48	1	0	2.62e-11	6.26e-11	11	48				
MMP20	9313	broad.mit.edu	37	11	102477389	102477389	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:102477389A>G	ENST00000260228.2	-	6	842	c.830T>C	c.(829-831)cTg>cCg	p.L277P	RP11-817J15.2_ENST00000544115.1_RNA|RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	296					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GGGCTTCCCCAGGAATACTTT	0.532																																						uc001phc.2		NA																	0				urinary_tract(1)|skin(1)	2						c.(829-831)CTG>CCG		matrix metalloproteinase 20 preproprotein							98.0	98.0	98.0					11																	102477389		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477389A>G	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.830T>C	11.37:g.102477389A>G	ENSP00000260228:p.Leu277Pro						p.L277P	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	843	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	277					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.830T>C	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.619885	0.00828	.	.	ENSG00000137674	ENST00000260228	T	0.13089	2.62	5.45	-1.88	0.07713	.	1.486070	0.03815	N	0.266583	T	0.07593	0.0191	N	0.08118	0	0.20074	N	0.999936	B	0.02656	0.0	B	0.04013	0.001	T	0.37572	-0.9700	10	0.22109	T	0.4	.	9.7435	0.40433	0.55:0.0:0.45:0.0	.	277	O60882	MMP20_HUMAN	P	277	ENSP00000260228:L277P	ENSP00000260228:L277P	L	-	2	0	MMP20	101982599	0.000000	0.05858	0.040000	0.18447	0.065000	0.16274	0.061000	0.14366	-0.474000	0.06862	0.528000	0.53228	CTG		0.532	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			16	64	0	0	0	0	16	64				
SIK2	23235	broad.mit.edu	37	11	111593425	111593425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:111593425C>T	ENST00000304987.3	+	14	2265	c.2092C>T	c.(2092-2094)Cag>Tag	p.Q698*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	698					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAACACCTGTCAGCTTTATTG	0.502																																						uc001plt.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(2092-2094)CAG>TAG		SNF1-like kinase 2							135.0	138.0	137.0					11																	111593425		2201	4297	6498	SO:0001587	stop_gained	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111593425C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2092C>T	11.37:g.111593425C>T	ENSP00000305976:p.Gln698*						p.Q698*	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			14	2210	+			698					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Nonsense_Mutation	SNP	ENST00000304987.3	37	c.2092C>T	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	40	8.045868	0.98627	.	.	ENSG00000170145	ENST00000304987	.	.	.	5.91	5.91	0.95273	.	0.160707	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.9157	0.97061	0.0:1.0:0.0:0.0	.	.	.	.	X	698	.	ENSP00000305976:Q698X	Q	+	1	0	SIK2	111098635	1.000000	0.71417	0.952000	0.39060	0.939000	0.58152	5.314000	0.65804	2.808000	0.96608	0.655000	0.94253	CAG		0.502	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		26	71	0	0	0	0	26	71				
OR8D1	283159	broad.mit.edu	37	11	124180027	124180027	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:124180027T>C	ENST00000357821.2	-	1	706	c.636A>G	c.(634-636)ctA>ctG	p.L212L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CAGCAACAGCTAGGGTGGGCA	0.507																																						uc010sag.1		NA																	0				ovary(2)|skin(1)	3						c.(634-636)CTA>CTG		olfactory receptor, family 8, subfamily D,							58.0	46.0	50.0					11																	124180027		2201	4299	6500	SO:0001819	synonymous_variant	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180027T>C	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.636A>G	11.37:g.124180027T>C							p.L212L	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	636	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	212			Helical; Name=5; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	c.636A>G	CCDS31706.1																																																																																				0.507	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		11	27	0	0	0	0	11	27				
ESAM	90952	broad.mit.edu	37	11	124632034	124632034	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:124632034C>A	ENST00000278927.5	-	1	146	c.17G>T	c.(16-18)gGg>gTg	p.G6V	ESAM_ENST00000442070.2_Missense_Mutation_p.G6V|RP11-677M14.3_ENST00000504932.2_RNA|RP11-677M14.3_ENST00000532579.1_RNA	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	6					blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACCAGGGGCCCCGGGAGGGA	0.697																																						uc001qav.3		NA																	0					0						c.(16-18)GGG>GTG		endothelial cell adhesion molecule precursor							32.0	37.0	35.0					11																	124632034		2198	4298	6496	SO:0001583	missense	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124632034C>A	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.17G>T	11.37:g.124632034C>A	ENSP00000278927:p.Gly6Val					ESAM_uc010sao.1_Missense_Mutation_p.G6V|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.G6V	p.G6V	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	1	190	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	6					B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	c.17G>T	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628381	0.46944	.	.	ENSG00000149564	ENST00000442070;ENST00000444566;ENST00000278927;ENST00000435477	T;T;T;T	0.73469	0.03;0.03;1.36;-0.75	4.41	3.47	0.39725	.	1.225170	0.05552	N	0.567657	T	0.63283	0.2498	N	0.22421	0.69	0.09310	N	1	P;P;B	0.44429	0.835;0.665;0.365	B;B;B	0.37943	0.261;0.261;0.133	T	0.56745	-0.7928	10	0.72032	D	0.01	.	10.2652	0.43452	0.0:0.7988:0.2012:0.0	.	6;6;6	B4DVN8;F8WDW9;Q96AP7	.;.;ESAM_HUMAN	V	6	ENSP00000410351:G6V;ENSP00000406689:G6V;ENSP00000278927:G6V;ENSP00000415893:G6V	ENSP00000278927:G6V	G	-	2	0	ESAM	124137244	0.001000	0.12720	0.001000	0.08648	0.126000	0.20510	1.258000	0.32944	1.169000	0.42739	0.561000	0.74099	GGG		0.697	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		5	19	1	0	3.6e-05	7.56e-05	5	19				
NTM	50863	broad.mit.edu	37	11	132016211	132016211	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr11:132016211G>T	ENST00000374786.1	+	2	682	c.203G>T	c.(202-204)tGg>tTg	p.W68L	NTM_ENST00000374784.1_Missense_Mutation_p.W68L|NTM_ENST00000427481.2_Missense_Mutation_p.W59L|NTM_ENST00000374791.3_Missense_Mutation_p.W68L|NTM_ENST00000539799.1_Missense_Mutation_p.W68L|NTM_ENST00000425719.2_Missense_Mutation_p.W68L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	68	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.W68L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CGGGTGGCCTGGCTAAACCGC	0.577																																						uc001qgp.2		NA																	2	Substitution - Missense(2)		prostate(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(202-204)TGG>TTG		neurotrimin isoform 1							140.0	108.0	119.0					11																	132016211		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016211G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.203G>T	11.37:g.132016211G>T	ENSP00000363918:p.Trp68Leu					NTM_uc001qgm.2_Missense_Mutation_p.W68L|NTM_uc010sch.1_Missense_Mutation_p.W59L|NTM_uc010sci.1_Missense_Mutation_p.W68L|NTM_uc010scj.1_Missense_Mutation_p.W27L|NTM_uc001qgo.2_Missense_Mutation_p.W68L|NTM_uc001qgq.2_Missense_Mutation_p.W68L	p.W68L	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	867	+			68			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.203G>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432668	0.96150	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	D;D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.92691	3.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.998;1.0	D	0.99331	1.0909	10	0.87932	D	0	-12.3768	19.819	0.96583	0.0:0.0:1.0:0.0	.	68;59;68;68;68;68	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	L	68;68;59;59;68;68;68	ENSP00000363923:W68L;ENSP00000437668:W68L;ENSP00000448104:W59L;ENSP00000416320:W59L;ENSP00000363918:W68L;ENSP00000396722:W68L;ENSP00000363916:W68L	ENSP00000363916:W68L	W	+	2	0	NTM	131521421	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.801000	0.99128	2.691000	0.91804	0.655000	0.94253	TGG		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		13	40	1	0	7.93e-07	1.75e-06	13	40				
LRP6	4040	broad.mit.edu	37	12	12334103	12334103	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:12334103T>C	ENST00000261349.4	-	6	1323	c.1247A>G	c.(1246-1248)aAt>aGt	p.N416S	LRP6_ENST00000543091.1_Missense_Mutation_p.N416S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	416	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATAAAGATTTCGTGCAAC	0.478																																						uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(1246-1248)AAT>AGT		low density lipoprotein receptor-related protein							162.0	135.0	144.0					12																	12334103		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334103T>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1247A>G	12.37:g.12334103T>C	ENSP00000261349:p.Asn416Ser					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.N416S	p.N416S	NM_002336	NP_002327	O75581	LRP6_HUMAN			6	1389	-		Prostate(47;0.0865)	416			Extracellular (Potential).|LDL-receptor class B 7.|Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1247A>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254014	0.80135	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93247	-3.19;-3.19	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.97508	0.9184	M	0.93197	3.39	0.80722	D	1	D;B	0.67145	0.996;0.368	D;P	0.73380	0.98;0.466	D	0.98468	1.0599	10	0.72032	D	0.01	.	16.0023	0.80306	0.0:0.0:0.0:1.0	.	416;416	F5H7J9;O75581	.;LRP6_HUMAN	S	416	ENSP00000261349:N416S;ENSP00000442472:N416S	ENSP00000261349:N416S	N	-	2	0	LRP6	12225370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.177000	0.69029	0.533000	0.62120	AAT		0.478	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			13	130	0	0	0	0	13	130				
GRIN2B	2904	broad.mit.edu	37	12	14018732	14018732	+	Splice_Site	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:14018732C>T	ENST00000609686.1	-	2	620	c.411G>A	c.(409-411)aaG>aaA	p.K137K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	137					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCTTTTTACCTTATCTGCCA	0.493																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(409-411)AAG>AAA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						107.0	124.0	119.0					12																	14018732		2203	4300	6503	SO:0001630	splice_region_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14018732C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.411+1G>A	12.37:g.14018732C>T							p.K137K	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	590	-			137			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.411G>A	CCDS8662.1																																																																																				0.493	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		Silent	123	142	0	0	0	0	123	142				
H3F3C	440093	broad.mit.edu	37	12	31944920	31944920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:31944920G>A	ENST00000340398.3	-	1	255	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	61					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCGGATGAGCAGCTCGGTC	0.602										HNSCC(67;0.2)																												uc001rkr.2		NA																	0					0						c.(181-183)CTC>TTC		histone H3-like							83.0	77.0	79.0					12																	31944920		2203	4297	6500	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944920G>A	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.181C>T	12.37:g.31944920G>A	ENSP00000339835:p.Leu61Phe	HNSCC(67;0.2)					p.L61F	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	256	-			61					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.181C>T	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464500	0.26335	.	.	ENSG00000188375	ENST00000340398	T	0.71698	-0.59	1.3	-2.59	0.06209	Histone-fold (2);Histone core (1);	0.696409	0.11153	U	0.593887	D	0.86209	0.5878	H	0.98466	4.24	0.30361	N	0.783782	D	0.89917	1.0	D	0.83275	0.996	T	0.76203	-0.3045	10	0.87932	D	0	.	1.3133	0.02102	0.1626:0.2044:0.4265:0.2064	.	61	Q6NXT2	H3C_HUMAN	F	61	ENSP00000339835:L61F	ENSP00000339835:L61F	L	-	1	0	H3F3C	31836187	1.000000	0.71417	0.000000	0.03702	0.049000	0.14656	2.666000	0.46799	-1.199000	0.02666	-0.849000	0.03036	CTC		0.602	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		32	52	0	0	0	0	32	52				
KMT2D	8085	broad.mit.edu	37	12	49420184	49420184	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:49420184C>T	ENST00000301067.7	-	48	15564	c.15565G>A	c.(15565-15567)Gga>Aga	p.G5189R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5189	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGCAGCTGTCCGATGGCGTGG	0.592																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15565-15567)GGA>AGA		myeloid/lymphoid or mixed-lineage leukemia 2							39.0	41.0	41.0					12																	49420184		2135	4232	6367	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420184C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15565G>A	12.37:g.49420184C>T	ENSP00000301067:p.Gly5189Arg	HNSCC(34;0.089)					p.G5189R	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15565	-			5189			FYR N-terminal.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15565G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745475	0.49151	.	.	ENSG00000167548	ENST00000301067	D	0.99591	-6.24	5.12	5.12	0.69794	FY-rich, N-terminal (1);	0.000000	0.36101	N	0.002794	D	0.99715	0.9890	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97470	1.0040	10	0.87932	D	0	.	17.7186	0.88344	0.0:1.0:0.0:0.0	.	5189	O14686	MLL2_HUMAN	R	5189	ENSP00000301067:G5189R	ENSP00000301067:G5189R	G	-	1	0	MLL2	47706451	1.000000	0.71417	0.978000	0.43139	0.964000	0.63967	7.818000	0.86416	2.565000	0.86533	0.655000	0.94253	GGA		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	27	0	0	0	0	6	27				
KRT73	319101	broad.mit.edu	37	12	53011886	53011886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:53011886G>C	ENST00000305748.3	-	1	457	c.423C>G	c.(421-423)aaC>aaG	p.N141K	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	141	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCGAACTTGTTGTTCAGCA	0.547																																						uc001sas.2		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(421-423)AAC>AAG		keratin 73							135.0	133.0	134.0					12																	53011886		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53011886G>C	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.423C>G	12.37:g.53011886G>C	ENSP00000307014:p.Asn141Lys						p.N141K	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	458	-			141			Coil 1A.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.423C>G	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119569	0.56505	.	.	ENSG00000186049	ENST00000305748	D	0.89485	-2.52	4.4	3.51	0.40186	Filament (1);	0.000000	0.53938	D	0.000047	D	0.93621	0.7963	H	0.94847	3.59	0.36542	D	0.871349	P	0.37398	0.593	P	0.48571	0.582	D	0.95374	0.8467	10	0.87932	D	0	.	9.5647	0.39391	0.0779:0.0:0.781:0.1411	.	141	Q86Y46	K2C73_HUMAN	K	141	ENSP00000307014:N141K	ENSP00000307014:N141K	N	-	3	2	KRT73	51298153	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	2.836000	0.48183	1.173000	0.42796	0.655000	0.94253	AAC		0.547	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		33	96	0	0	0	0	33	96				
ITGA7	3679	broad.mit.edu	37	12	56092549	56092549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:56092549G>C	ENST00000555728.1	-	7	1103	c.1075C>G	c.(1075-1077)Cgc>Ggc	p.R359G	ITGA7_ENST00000257880.7_Missense_Mutation_p.R359G|ITGA7_ENST00000452168.2_Missense_Mutation_p.R222G|ITGA7_ENST00000257879.6_Missense_Mutation_p.R315G|ITGA7_ENST00000553804.1_Missense_Mutation_p.R319G|ITGA7_ENST00000347027.6_Missense_Mutation_p.R315G|ITGA7_ENST00000394230.2_Missense_Mutation_p.R319G|ITGA7_ENST00000394229.2_Missense_Mutation_p.R315G			Q13683	ITA7_HUMAN	integrin, alpha 7	359					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGGTCAGGCGCTCCCCAGAC	0.652																																						uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(955-957)CGC>GGC		integrin alpha 7 isoform 1 precursor							68.0	55.0	59.0					12																	56092549		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56092549G>C		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1075C>G	12.37:g.56092549G>C	ENSP00000452387:p.Arg359Gly					ITGA7_uc001shg.2_Missense_Mutation_p.R315G|ITGA7_uc010sps.1_Missense_Mutation_p.R222G|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.R202G	p.R319G	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			6	1175	-			359			FG-GAP 5.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	G	8.806	0.934091	0.18206	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.46	4.46	0.54185	.	0.198786	0.37857	N	0.001913	T	0.36663	0.0975	N	0.01874	-0.695	0.39811	D	0.972705	B;B;B;P	0.39352	0.0;0.0;0.0;0.669	B;B;B;B	0.33339	0.001;0.0;0.001;0.162	T	0.45877	-0.9231	10	0.12103	T	0.63	.	10.1055	0.42530	0.0:0.0:0.8:0.2	.	222;359;319;378	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	G	319;315;315;222;359;319;315;359;359	ENSP00000452120:R319G;ENSP00000257879:R315G;ENSP00000343009:R315G;ENSP00000393844:R222G;ENSP00000257880:R359G;ENSP00000377777:R319G;ENSP00000377776:R315G;ENSP00000452387:R359G	ENSP00000257879:R315G	R	-	1	0	ITGA7	54378816	0.000000	0.05858	1.000000	0.80357	0.876000	0.50452	0.676000	0.25247	2.489000	0.83994	0.491000	0.48974	CGC		0.652	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		8	48	0	0	0	0	8	48				
OSBPL8	114882	broad.mit.edu	37	12	76791671	76791671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:76791671C>T	ENST00000261183.3	-	8	954	c.475G>A	c.(475-477)Ggt>Agt	p.G159S	OSBPL8_ENST00000393249.2_Missense_Mutation_p.G117S|OSBPL8_ENST00000393250.4_Missense_Mutation_p.G117S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	159	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTTAGAGTACCACGAATCTAC	0.358																																						uc001sye.1		NA																	0				ovary(1)	1						c.(475-477)GGT>AGT		oxysterol-binding protein-like protein 8 isoform							71.0	65.0	67.0					12																	76791671		2203	4300	6503	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76791671C>T	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.475G>A	12.37:g.76791671C>T	ENSP00000261183:p.Gly159Ser					OSBPL8_uc001syf.1_Missense_Mutation_p.G117S|OSBPL8_uc001syg.1_Missense_Mutation_p.G117S|OSBPL8_uc001syh.1_Missense_Mutation_p.G134S	p.G159S	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			8	955	-			159			PH.		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.475G>A	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585155	0.96578	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946;ENST00000548341	T;T;T;T;T;T	0.73681	-0.77;2.55;-0.77;2.55;-0.77;2.55	5.64	5.64	0.86602	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	L	0.35542	1.07	0.80722	D	1	D;P	0.54601	0.967;0.95	D;D	0.64410	0.915;0.925	T	0.80091	-0.1527	10	0.48119	T	0.1	-17.4034	19.7126	0.96102	0.0:1.0:0.0:0.0	.	134;159	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	S	117;159;144;117;159;159;134;146	ENSP00000376939:G117S;ENSP00000261183:G159S;ENSP00000376940:G117S;ENSP00000450238:G159S;ENSP00000447893:G134S;ENSP00000446886:G146S	ENSP00000261183:G159S	G	-	1	0	OSBPL8	75315802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.664000	0.90586	0.650000	0.86243	GGT		0.358	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		9	30	0	0	0	0	9	30				
PPFIA2	8499	broad.mit.edu	37	12	81719651	81719651	+	Splice_Site	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:81719651T>A	ENST00000549396.1	-	22	2709		c.e22-2		PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TAAAGCCTCCTGTGAAGAGAA	0.423																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.e22-1		PTPRF interacting protein alpha 2							61.0	60.0	60.0					12																	81719651		1866	4096	5962	SO:0001630	splice_region_variant	8499							g.chr12:81719651T>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2549-2A>T	12.37:g.81719651T>A						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Splice_Site|PPFIA2_uc010suh.1_Splice_Site|PPFIA2_uc010sui.1_Splice_Site|PPFIA2_uc010suj.1_Splice_Site|PPFIA2_uc009zsi.1_Splice_Site|PPFIA2_uc010suf.1_Splice_Site|PPFIA2_uc009zsh.2_Splice_Site	p.R850_splice	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			22	2710	-								B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Splice_Site	SNP	ENST00000549396.1	37	c.2549_splice	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344185	0.41498	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000551147	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1793	0.72941	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPFIA2	80243782	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	5.803000	0.69129	2.217000	0.71921	0.477000	0.44152	.		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		Intron	3	25	0	0	0	0	3	25				
TMTC2	160335	broad.mit.edu	37	12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:83290168C>G	ENST00000321196.3	+	3	1933	c.1226C>G	c.(1225-1227)aCg>aGg	p.T409R	TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000549919.1_Missense_Mutation_p.T403R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	409					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.T409R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTTCCTGCCACGAACCTGTTT	0.418																																						uc001szt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1225-1227)ACG>AGG		transmembrane and tetratricopeptide repeat							179.0	181.0	180.0					12																	83290168		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83290168C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1226C>G	12.37:g.83290168C>G	ENSP00000322300:p.Thr409Arg					TMTC2_uc001szr.1_Missense_Mutation_p.T409R|TMTC2_uc001szs.1_Missense_Mutation_p.T409R|TMTC2_uc010suk.1_Missense_Mutation_p.T164R	p.T409R	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			3	1658	+			409			Helical; (Potential).		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1226C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961960	0.74016	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.42900	0.96;0.96;0.96	5.86	5.86	0.93980	.	0.045313	0.85682	D	0.000000	T	0.56601	0.1996	M	0.64997	1.995	0.80722	D	1	D;P;D	0.58970	0.971;0.933;0.984	P;P;P	0.55999	0.691;0.71;0.789	T	0.57533	-0.7795	10	0.66056	D	0.02	-14.0083	15.6552	0.77129	0.0:0.8636:0.1364:0.0	.	409;164;409	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	409;409;403;164	ENSP00000322300:T409R;ENSP00000448292:T409R;ENSP00000447609:T403R	ENSP00000322300:T409R	T	+	2	0	TMTC2	81814299	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.696000	0.68287	2.776000	0.95493	0.650000	0.86243	ACG		0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		18	109	0	0	0	0	18	109				
KERA	11081	broad.mit.edu	37	12	91449952	91449952	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:91449952G>C	ENST00000266719.3	-	2	354	c.107C>G	c.(106-108)aCt>aGt	p.T36S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	36	LRRNT.				carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTCATGAATAGTCCAATCATC	0.408																																						uc001tbl.2		NA																	0				skin(1)	1						c.(106-108)ACT>AGT		keratocan precursor							103.0	82.0	89.0					12																	91449952		2203	4300	6503	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449952G>C	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.107C>G	12.37:g.91449952G>C	ENSP00000266719:p.Thr36Ser						p.T36S	NM_007035	NP_008966	O60938	KERA_HUMAN			2	726	-			36			LRRNT.			Missense_Mutation	SNP	ENST00000266719.3	37	c.107C>G	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.195050	0.00299	.	.	ENSG00000139330	ENST00000266719	T	0.16743	2.32	5.93	-3.97	0.04094	.	1.877600	0.01865	N	0.036859	T	0.09069	0.0224	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21348	-1.0248	10	0.08837	T	0.75	0.3383	3.2852	0.06929	0.1114:0.2802:0.3083:0.3002	.	36	O60938	KERA_HUMAN	S	36	ENSP00000266719:T36S	ENSP00000266719:T36S	T	-	2	0	KERA	89974083	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.343000	0.19944	-1.189000	0.02702	-0.182000	0.12963	ACT		0.408	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		5	40	0	0	0	0	5	40				
ACTR6	64431	broad.mit.edu	37	12	100603865	100603865	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:100603865G>T	ENST00000188312.2	+	5	1159	c.394G>T	c.(394-396)Gca>Tca	p.A132S	ACTR6_ENST00000546902.1_Missense_Mutation_p.A50S|ACTR6_ENST00000552376.1_Missense_Mutation_p.A132S|ACTR6_ENST00000551617.1_Missense_Mutation_p.A50S	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	132						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GGCTCTCAGTGCACATAGGTA	0.308																																						uc001thb.1		NA																	0				ovary(1)	1						c.(394-396)GCA>TCA		ARP6 actin-related protein 6 homolog							104.0	99.0	101.0					12																	100603865		2203	4297	6500	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100603865G>T	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.394G>T	12.37:g.100603865G>T	ENSP00000188312:p.Ala132Ser					ACTR6_uc001thc.1_Missense_Mutation_p.A24S|ACTR6_uc001thd.1_Missense_Mutation_p.A132S|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.A50S|ACTR6_uc001thf.1_Missense_Mutation_p.A50S|uc001thg.1_Intron	p.A132S	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN			5	450	+			132					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.394G>T	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761161	0.69763	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39	5.2	5.2	0.72013	.	0.048259	0.85682	D	0.000000	D	0.96207	0.8763	M	0.73598	2.24	0.80722	D	1	P;P;P	0.39601	0.68;0.494;0.549	B;B;B	0.35727	0.209;0.1;0.161	D	0.96100	0.9068	10	0.48119	T	0.1	.	19.2818	0.94054	0.0:0.0:1.0:0.0	.	50;132;132	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	S	144;132;50;132;50	ENSP00000448508:A144S;ENSP00000188312:A132S;ENSP00000448669:A50S;ENSP00000447237:A132S;ENSP00000448356:A50S	ENSP00000188312:A132S	A	+	1	0	ACTR6	99127996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.421000	0.97455	2.850000	0.98022	0.650000	0.86243	GCA		0.308	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		8	56	1	0	5.18e-06	1.12e-05	8	56				
ALDH1L2	160428	broad.mit.edu	37	12	105428104	105428104	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:105428104T>A	ENST00000258494.9	-	19	2358	c.2218A>T	c.(2218-2220)Atc>Ttc	p.I740F	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	740	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCGTCGTGGATGGATTCTTCC	0.418																																						uc001tlc.2		NA																	0				skin(1)	1						c.(2218-2220)ATC>TTC		aldehyde dehydrogenase 1 family, member L2							113.0	92.0	99.0					12																	105428104		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105428104T>A	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2218A>T	12.37:g.105428104T>A	ENSP00000258494:p.Ile740Phe					ALDH1L2_uc009zuo.2_Missense_Mutation_p.I195F|ALDH1L2_uc009zup.2_RNA	p.I740F	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			19	2345	-			740			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2218A>T	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219438	0.79464	.	.	ENSG00000136010	ENST00000258494	T	0.79749	-1.3	5.46	4.32	0.51571	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.135183	0.64402	D	0.000004	D	0.92205	0.7528	H	0.97158	3.95	0.80722	D	1	D	0.54964	0.969	D	0.68943	0.961	D	0.93182	0.6575	10	0.87932	D	0	.	11.3052	0.49332	0.0:0.0711:0.0:0.9289	.	740	Q3SY69	AL1L2_HUMAN	F	740	ENSP00000258494:I740F	ENSP00000258494:I740F	I	-	1	0	ALDH1L2	103952234	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.639000	0.46570	1.023000	0.39654	0.454000	0.30748	ATC		0.418	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		6	42	0	0	0	0	6	42				
RIC8B	55188	broad.mit.edu	37	12	107254088	107254088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:107254088G>T	ENST00000392839.2	+	8	1455	c.1349G>T	c.(1348-1350)gGa>gTa	p.G450V	RIC8B_ENST00000392837.4_Missense_Mutation_p.G450V|RIC8B_ENST00000355478.2_Missense_Mutation_p.G410V|RIC8B_ENST00000549643.1_5'UTR	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	450					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						AATGCTGCAGGACTGTTGGCG	0.463																																						uc001tlx.2		NA																	0				ovary(1)	1						c.(1348-1350)GGA>GTA		resistance to inhibitors of cholinesterase 8							89.0	84.0	86.0					12																	107254088		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107254088G>T	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1349G>T	12.37:g.107254088G>T	ENSP00000376583:p.Gly450Val					RIC8B_uc001tlw.2_Missense_Mutation_p.G450V|RIC8B_uc001tly.2_Missense_Mutation_p.G410V|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	p.G450V	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			8	1474	+			450					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.1349G>T	CCDS9109.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.188593|5.188593	0.94923|0.94923	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000548914|ENST00000392837;ENST00000392839;ENST00000355478	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Synembryn (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84871|0.84871	0.5568|0.5568	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.86203|0.86203	0.1620|0.1620	5|9	.|0.87932	.|D	.|0	-6.5757|-6.5757	20.1346|20.1346	0.98019|0.98019	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|410;450;450	.|Q9NVN3-3;Q9NVN3;B7WPL0	.|.;RIC8B_HUMAN;.	Y|V	275|450;450;410	.|.	.|ENSP00000347662:G410V	D|G	+|+	1|2	0|0	RIC8B|RIC8B	105778218|105778218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.869000|9.869000	0.99810|0.99810	2.763000|2.763000	0.94921|0.94921	0.557000|0.557000	0.71058|0.71058	GAC|GGA		0.463	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		12	41	1	0	7.04e-09	1.62e-08	12	41				
RPH3A	22895	broad.mit.edu	37	12	113314582	113314582	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:113314582C>A	ENST00000389385.4	+	13	1579	c.1082C>A	c.(1081-1083)gCa>gAa	p.A361E	RPH3A_ENST00000420983.2_Missense_Mutation_p.A361E|RPH3A_ENST00000543106.2_Missense_Mutation_p.A361E|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.A357E|RPH3A_ENST00000415485.3_Missense_Mutation_p.A361E|RPH3A_ENST00000447659.2_Missense_Mutation_p.A312E|RPH3A_ENST00000548866.1_Missense_Mutation_p.A312E	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	361	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAAGCATCTGCAGCTGCCCCC	0.642																																						uc010syl.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1081-1083)GCA>GAA		rabphilin 3A homolog isoform 1							43.0	42.0	43.0					12																	113314582		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113314582C>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1082C>A	12.37:g.113314582C>A	ENSP00000374036:p.Ala361Glu					RPH3A_uc001ttz.2_Missense_Mutation_p.A361E|RPH3A_uc001tty.2_Missense_Mutation_p.A357E|RPH3A_uc009zwe.1_Missense_Mutation_p.A357E|RPH3A_uc010sym.1_Missense_Mutation_p.A312E|RPH3A_uc001tua.2_Missense_Mutation_p.A121E	p.A361E	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	13	1444	+			361			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1082C>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415063	0.42817	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	4.99	4.08	0.47627	.	0.422897	0.18994	N	0.125521	T	0.13415	0.0325	L	0.44542	1.39	0.24881	N	0.992228	P;P;P;B	0.44627	0.835;0.839;0.745;0.403	B;B;B;B	0.40602	0.334;0.23;0.18;0.128	T	0.09773	-1.0659	10	0.06625	T	0.88	.	12.6014	0.56499	0.0:0.9155:0.0:0.0845	.	312;361;361;357	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	E	361;361;312;357;361;312;361;13;13	ENSP00000440384:A361E;ENSP00000374036:A361E;ENSP00000413254:A312E;ENSP00000448297:A357E;ENSP00000405357:A361E;ENSP00000450347:A312E;ENSP00000408889:A361E	ENSP00000374036:A361E	A	+	2	0	RPH3A	111798965	0.748000	0.28294	0.210000	0.23637	0.024000	0.10985	3.314000	0.51943	2.297000	0.77311	0.511000	0.50034	GCA		0.642	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		8	49	1	0	0.000274275	0.000561037	8	49				
IQCD	115811	broad.mit.edu	37	12	113645284	113645284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:113645284C>T	ENST00000416617.2	-	2	878	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	IQCD_ENST00000546692.1_Missense_Mutation_p.E230K|IQCD_ENST00000299732.2_Missense_Mutation_p.E230K			Q96DY2	IQCD_HUMAN	IQ motif containing D	230										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AATTCCTTTTCAAGAGTATCA	0.383																																						uc001tuv.1		NA																	0				ovary(1)	1						c.(688-690)GAA>AAA		IQ motif containing D							97.0	96.0	97.0					12																	113645284		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645284C>T	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.688G>A	12.37:g.113645284C>T	ENSP00000400669:p.Glu230Lys					IQCD_uc001tuu.2_Missense_Mutation_p.E230K	p.E230K	NM_138451	NP_612460	Q96DY2	IQCD_HUMAN			2	1110	-			230					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.688G>A		.	.	.	.	.	.	.	.	.	.	C	17.12	3.308384	0.60305	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.22743	2.91;2.91;1.94	5.25	2.1	0.27182	.	0.255682	0.36374	N	0.002621	T	0.38558	0.1045	M	0.69823	2.125	0.09310	N	1	D;P	0.65815	0.995;0.95	P;P	0.57152	0.814;0.689	T	0.34900	-0.9810	10	0.72032	D	0.01	-15.0006	14.7542	0.69552	0.0:0.5818:0.4182:0.0	.	230;230	F8VZV9;Q96DY2-2	.;.	K	230	ENSP00000299732:E230K;ENSP00000400669:E230K;ENSP00000446623:E230K	ENSP00000299732:E230K	E	-	1	0	IQCD	112129667	0.013000	0.17824	0.003000	0.11579	0.019000	0.09904	0.238000	0.18004	0.535000	0.28714	0.563000	0.77884	GAA		0.383	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		5	56	0	0	0	0	5	56				
TMEM132B	114795	broad.mit.edu	37	12	126135284	126135284	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:126135284T>C	ENST00000299308.3	+	7	1692	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S74P	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	562						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACGAGGCTGCTCCCTGCAGTA	0.572																																						uc001uhe.1		NA																	0		p.S562S(1)		skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1684-1686)TCC>CCC		transmembrane protein 132B							81.0	91.0	88.0					12																	126135284		2187	4291	6478	SO:0001583	missense	114795					integral to membrane		g.chr12:126135284T>C	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1684T>C	12.37:g.126135284T>C	ENSP00000299308:p.Ser562Pro					TMEM132B_uc001uhf.1_Missense_Mutation_p.S74P	p.S562P	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	7	1692	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		562			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1684T>C	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016495	0.54468	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.14640	2.49;2.49	5.15	2.55	0.30701	.	0.197851	0.35151	N	0.003416	T	0.15522	0.0374	L	0.38175	1.15	0.39736	D	0.971677	P	0.46220	0.874	P	0.50754	0.649	T	0.05716	-1.0868	10	0.30078	T	0.28	.	9.2032	0.37272	0.4292:0.0:0.0:0.5708	.	562	Q14DG7	T132B_HUMAN	P	562;74	ENSP00000299308:S562P;ENSP00000440436:S74P	ENSP00000299308:S562P	S	+	1	0	TMEM132B	124701237	0.997000	0.39634	0.926000	0.36857	0.803000	0.45373	1.940000	0.40223	0.732000	0.32470	0.533000	0.62120	TCC		0.572	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		11	42	0	0	0	0	11	42				
PIWIL1	9271	broad.mit.edu	37	12	130827590	130827590	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:130827590A>T	ENST00000245255.3	+	3	406	c.134A>T	c.(133-135)gAa>gTa	p.E45V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	45					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCAGAGGGGGAATTATTTGGC	0.473																																						uc001uik.2		NA																	0				ovary(2)	2						c.(133-135)GAA>GTA		piwi-like 1							64.0	60.0	62.0					12																	130827590		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827590A>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.134A>T	12.37:g.130827590A>T	ENSP00000245255:p.Glu45Val					PIWIL1_uc001uij.1_Missense_Mutation_p.E45V	p.E45V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	3	224	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		45					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.134A>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	A	9.571	1.120926	0.20877	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	4.86	4.86	0.63082	.	0.448229	0.24568	N	0.037417	T	0.11367	0.0277	L	0.28274	0.84	0.40057	D	0.975844	P;P	0.44380	0.834;0.801	P;B	0.45794	0.493;0.36	T	0.17899	-1.0354	10	0.33940	T	0.23	-0.2616	13.5795	0.61893	1.0:0.0:0.0:0.0	.	45;45	Q96J94;Q96J94-2	PIWL1_HUMAN;.	V	45	ENSP00000245255:E45V;ENSP00000442086:E45V;ENSP00000440677:E45V;ENSP00000439096:E45V;ENSP00000444353:E45V;ENSP00000438582:E45V	ENSP00000245255:E45V	E	+	2	0	PIWIL1	129393543	0.999000	0.42202	0.876000	0.34364	0.011000	0.07611	4.649000	0.61433	1.939000	0.56221	0.383000	0.25322	GAA		0.473	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			6	31	0	0	0	0	6	31				
FRY	10129	broad.mit.edu	37	13	32812117	32812117	+	Missense_Mutation	SNP	G	G	T	rs202212752		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:32812117G>T	ENST00000380250.3	+	44	6908	c.6412G>T	c.(6412-6414)Gct>Tct	p.A2138S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2138						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCATCCCACGCTATTGGTAA	0.458																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(6412-6414)GCT>TCT		furry homolog							81.0	81.0	81.0					13																	32812117		2052	4203	6255	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32812117G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6412G>T	13.37:g.32812117G>T	ENSP00000369600:p.Ala2138Ser					FRY_uc010tdw.1_RNA	p.A2138S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	44	6908	+		Lung SC(185;0.0271)	2138					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6412G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	6.622	0.483258	0.12581	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.20881	2.04	5.96	5.12	0.69794	.	0.144445	0.64402	D	0.000008	T	0.12518	0.0304	N	0.11789	0.175	0.80722	D	1	B	0.14805	0.011	B	0.22386	0.039	T	0.07309	-1.0779	10	0.08179	T	0.78	.	15.476	0.75481	0.0662:0.0:0.9338:0.0	.	2138	Q5TBA9	FRY_HUMAN	S	2138;975	ENSP00000369600:A2138S	ENSP00000369600:A2138S	A	+	1	0	FRY	31710117	1.000000	0.71417	0.999000	0.59377	0.656000	0.38851	2.734000	0.47368	1.541000	0.49316	-0.126000	0.14955	GCT		0.458	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		16	74	1	0	6.94e-10	1.63e-09	16	74				
STARD13	90627	broad.mit.edu	37	13	33701605	33701605	+	Silent	SNP	C	C	G	rs548139142	byFrequency	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:33701605C>G	ENST00000336934.5	-	6	1943	c.1827G>C	c.(1825-1827)acG>acC	p.T609T	STARD13_ENST00000399365.3_Silent_p.T491T|STARD13_ENST00000255486.4_Silent_p.T601T	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	609					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTGGCTGGCCGTCTGGCTGC	0.632																																						uc001uuw.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1825-1827)ACG>ACC		StAR-related lipid transfer (START) domain							35.0	29.0	31.0					13																	33701605		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33701605C>G	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1827G>C	13.37:g.33701605C>G						STARD13_uc001uuu.2_Silent_p.T601T|STARD13_uc001uuv.2_Silent_p.T491T|STARD13_uc001uux.2_Silent_p.T574T|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.T594T	p.T609T	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	6	1953	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	609					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.1827G>C	CCDS9348.1																																																																																				0.632	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		8	8	0	0	0	0	8	8				
FREM2	341640	broad.mit.edu	37	13	39435695	39435695	+	Silent	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:39435695A>T	ENST00000280481.7	+	15	7863	c.7647A>T	c.(7645-7647)atA>atT	p.I2549I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2549					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCACACATAGATGGTAGGT	0.423																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7645-7647)ATA>ATT		FRAS1-related extracellular matrix protein 2							161.0	130.0	141.0					13																	39435695		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39435695A>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7647A>T	13.37:g.39435695A>T						FREM2_uc001uww.2_Silent_p.I635I	p.I2549I	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	15	7956	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2549			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.7647A>T	CCDS31960.1																																																																																				0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		21	67	0	0	0	0	21	67				
LCP1	3936	broad.mit.edu	37	13	46726918	46726918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:46726918C>T	ENST00000398576.2	-	10	1124	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	LCP1_ENST00000323076.2_Missense_Mutation_p.E246K			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	246	Actin-binding 1.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTCTTACCTTCATTTCTGCTG	0.458			T	BCL6	NHL																																	uc001vaz.3		NA		Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL 		0				lung(4)|ovary(3)	7						c.(736-738)GAA>AAA		L-plastin							81.0	76.0	78.0					13																	46726918		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46726918C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.736G>A	13.37:g.46726918C>T	ENSP00000381581:p.Glu246Lys					LCP1_uc001vba.3_Missense_Mutation_p.E246K	p.E246K	NM_002298	NP_002289	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	7	862	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	246			Actin-binding 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.736G>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772990	0.90108	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;T	0.95518	-3.73;-3.73;0.3	5.43	5.43	0.79202	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	L	0.46157	1.445	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	D	0.96945	0.9690	10	0.56958	D	0.05	.	18.2454	0.89984	0.0:1.0:0.0:0.0	.	246	P13796	PLSL_HUMAN	K	246	ENSP00000315757:E246K;ENSP00000381581:E246K;ENSP00000408052:E246K	ENSP00000315757:E246K	E	-	1	0	LCP1	45624919	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.487000	0.81328	2.546000	0.85860	0.460000	0.39030	GAA		0.458	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		9	34	0	0	0	0	9	34				
OR4N2	390429	broad.mit.edu	37	14	20295661	20295661	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:20295661C>A	ENST00000315947.1	+	1	54	c.54C>A	c.(52-54)acC>acA	p.T18T	OR4N2_ENST00000568211.1_Silent_p.T18T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T18T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTCTGACCCAGTCTCAAG	0.383																																						uc010tkv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(52-54)ACC>ACA		olfactory receptor, family 4, subfamily N,							153.0	169.0	163.0					14																	20295661		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295661C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.54C>A	14.37:g.20295661C>A							p.T18T	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	54	+	all_cancers(95;0.00108)		18			Extracellular (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.54C>A	CCDS32022.1																																																																																				0.383	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			20	136	1	0	8.34e-07	1.84e-06	20	136				
SLC7A8	23428	broad.mit.edu	37	14	23609700	23609700	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:23609700C>T	ENST00000316902.7	-	5	1493	c.768G>A	c.(766-768)gaG>gaA	p.E256E	SLC7A8_ENST00000469263.1_Silent_p.E256E|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000453702.1_Silent_p.E53E|SLC7A8_ENST00000529705.2_Silent_p.E151E	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	256					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAACAAGCTCCTCAGTCACGT	0.532																																						uc001wiz.2		NA																	0				ovary(1)	1						c.(766-768)GAG>GAA		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						166.0	165.0	166.0					14																	23609700		2203	4300	6503	SO:0001819	synonymous_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23609700C>T	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.768G>A	14.37:g.23609700C>T						SLC7A8_uc001wix.2_Silent_p.E53E|SLC7A8_uc010tnk.1_Intron|SLC7A8_uc010tnl.1_Silent_p.E151E|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Silent_p.E256E	p.E256E	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	5	1494	-	all_cancers(95;4.6e-05)		256					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	c.768G>A	CCDS9590.1																																																																																				0.532	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			22	146	0	0	0	0	22	146				
DHRS2	10202	broad.mit.edu	37	14	24108495	24108495	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:24108495A>G	ENST00000250383.6	+	3	724	c.248A>G	c.(247-249)gAg>gGg	p.E83G	DHRS2_ENST00000344777.7_Missense_Mutation_p.E83G|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	83					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGCAGGGGGAGGGGCTGAGT	0.687																																						uc001wkt.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(247-249)GAG>GGG		dehydrogenase/reductase member 2 isoform 1							35.0	39.0	37.0					14																	24108495		2202	4299	6501	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108495A>G		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.248A>G	14.37:g.24108495A>G	ENSP00000250383:p.Glu83Gly					DHRS2_uc010aku.1_Missense_Mutation_p.E83G|DHRS2_uc001wku.3_Missense_Mutation_p.E83G|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.E83G	p.E83G	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	3	695	+			61					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.248A>G	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.407473	0.42715	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.48836	0.8;0.8;0.8	4.95	4.95	0.65309	NAD(P)-binding domain (1);	0.323573	0.33217	N	0.005157	T	0.54367	0.1854	N	0.26092	0.79	0.53688	D	0.999972	B;D;D;P	0.89917	0.208;0.982;1.0;0.51	B;D;D;B	0.91635	0.262;0.93;0.999;0.098	T	0.56032	-0.8046	10	0.49607	T	0.09	.	12.5873	0.56424	1.0:0.0:0.0:0.0	.	61;83;83;61	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	G	83	ENSP00000401213:E83G;ENSP00000250383:E83G;ENSP00000344674:E83G	ENSP00000250383:E83G	E	+	2	0	DHRS2	23178335	1.000000	0.71417	0.993000	0.49108	0.011000	0.07611	6.124000	0.71620	2.081000	0.62600	0.482000	0.46254	GAG		0.687	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		3	90	0	0	0	0	3	90				
PRKD1	5587	broad.mit.edu	37	14	30103722	30103722	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:30103722G>T	ENST00000331968.5	-	8	1445	c.1216C>A	c.(1216-1218)Ctc>Atc	p.L406I	PRKD1_ENST00000415220.2_Missense_Mutation_p.L414I|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	406					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACCCTCATGAGTGGGATATTG	0.403																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1216-1218)CTC>ATC		protein kinase D1							379.0	295.0	323.0					14																	30103722		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30103722G>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1216C>A	14.37:g.30103722G>T	ENSP00000333568:p.Leu406Ile						p.L406I	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	8	1397	-	Hepatocellular(127;0.0604)		406					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1216C>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348251	0.82132	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.79940	-1.32;-1.28	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000001	D	0.87152	0.6106	M	0.84948	2.725	0.58432	D	0.999999	D	0.65815	0.995	P	0.58013	0.831	D	0.88072	0.2801	10	0.72032	D	0.01	-16.583	7.9153	0.29814	0.1854:0.0:0.8146:0.0	.	406	Q15139	KPCD1_HUMAN	I	406;414	ENSP00000333568:L406I;ENSP00000390535:L414I	ENSP00000333568:L406I	L	-	1	0	PRKD1	29173473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.453000	0.52978	2.865000	0.98341	0.655000	0.94253	CTC		0.403	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		25	140	1	0	6.33e-13	1.53e-12	25	140				
INSM2	84684	broad.mit.edu	37	14	36003680	36003680	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:36003680G>T	ENST00000307169.3	+	1	433	c.222G>T	c.(220-222)ggG>ggT	p.G74G		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AACAGTCGGGGTCGCCATGTC	0.781																																						uc001wth.1		NA																	0				lung(1)|skin(1)	2						c.(220-222)GGG>GGT		insulinoma-associated protein IA-6							4.0	6.0	5.0					14																	36003680		1998	3928	5926	SO:0001819	synonymous_variant	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36003680G>T	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.222G>T	14.37:g.36003680G>T							p.G74G	NM_032594	NP_115983	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	433	+	Breast(36;0.122)|Hepatocellular(127;0.158)		74					A1L432|J9Y024|Q8N8K7|Q96Q84	Silent	SNP	ENST00000307169.3	37	c.222G>T	CCDS9657.1																																																																																				0.781	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			9	4	1	0	0.000442599	0.000901105	9	4				
SLC25A21	89874	broad.mit.edu	37	14	37283178	37283178	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:37283178G>T	ENST00000331299.5	-	3	663	c.148C>A	c.(148-150)Cca>Aca	p.P50T	RP11-81F13.2_ENST00000557642.1_RNA|SLC25A21_ENST00000555449.1_Missense_Mutation_p.P50T	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	50					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TAACTGTTTGGATCGGTTGCA	0.313																																						uc001wtz.1		NA																	0				skin(1)	1						c.(148-150)CCA>ACA		solute carrier family 25 (mitochondrial							75.0	75.0	75.0					14																	37283178		2203	4297	6500	SO:0001583	missense	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37283178G>T	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.148C>A	14.37:g.37283178G>T	ENSP00000329452:p.Pro50Thr						p.P50T	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	3	458	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		50			Solcar 1.		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	37	c.148C>A	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932192	0.34096	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.78816	-1.21;-1.21	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.104285	0.64402	D	0.000002	T	0.69214	0.3086	L	0.31294	0.92	0.80722	D	1	B	0.29136	0.234	B	0.31751	0.135	T	0.63734	-0.6570	10	0.19590	T	0.45	-2.2475	17.1787	0.86849	0.0:0.0:1.0:0.0	.	50	Q9BQT8	ODC_HUMAN	T	50	ENSP00000451873:P50T;ENSP00000329452:P50T	ENSP00000329452:P50T	P	-	1	0	SLC25A21	36352929	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.534000	0.60622	2.813000	0.96785	0.561000	0.74099	CCA		0.313	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		8	58	1	0	0.000274275	0.000561037	8	58				
C14orf142	84520	broad.mit.edu	37	14	93673339	93673339	+	Missense_Mutation	SNP	T	T	A	rs199880504	byFrequency	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:93673339T>A	ENST00000306954.4	-	1	100	c.44A>T	c.(43-45)cAg>cTg	p.Q15L	UBR7_ENST00000013070.6_5'Flank|UBR7_ENST00000416753.1_5'Flank|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	15										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		CCGCAGCTTCTGCGGCTTCCC	0.622											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ybl.1		NA																	0					0						c.(43-45)CAG>CTG		hypothetical protein LOC84520							54.0	58.0	56.0					14																	93673339		1965	4147	6112	SO:0001583	missense	84520							g.chr14:93673339T>A	AF277185	CCDS41981.1	14q32.12	2012-09-25			ENSG00000170270	ENSG00000170270			20356	protein-coding gene	gene with protein product							Standard	NM_032490		Approved		uc001ybl.1	Q9BXV9	OTTHUMG00000171267	ENST00000306954.4:c.44A>T	14.37:g.93673339T>A	ENSP00000306320:p.Gln15Leu		OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1299	UBR7_uc001ybm.3_5'Flank|UBR7_uc001ybn.3_5'Flank|UBR7_uc010auq.2_5'Flank	p.Q15L	NM_032490	NP_115879	Q9BXV9	CN142_HUMAN		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)	1	121	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	15					Q0D2N1|Q0P6C4|Q3B7W5	Missense_Mutation	SNP	ENST00000306954.4	37	c.44A>T	CCDS41981.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656720	0.29425	.	.	ENSG00000170270	ENST00000306954	.	.	.	5.19	-2.79	0.05841	.	.	.	.	.	T	0.27933	0.0688	L	0.29908	0.895	0.09310	N	1	B	0.20671	0.047	B	0.20955	0.032	T	0.27297	-1.0078	8	0.72032	D	0.01	-3.1899	7.7215	0.28736	0.1407:0.5335:0.0:0.3259	.	15	Q9BXV9	CN142_HUMAN	L	15	.	ENSP00000306320:Q15L	Q	-	2	0	C14orf142	92743092	0.001000	0.12720	0.001000	0.08648	0.146000	0.21551	-0.452000	0.06787	-0.707000	0.05022	0.533000	0.62120	CAG		0.622	C14orf142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412691.1	NM_032490		40	61	0	0	0	0	40	61				
AK7	122481	broad.mit.edu	37	14	96937852	96937852	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr14:96937852A>G	ENST00000267584.4	+	13	1439	c.1395A>G	c.(1393-1395)aaA>aaG	p.K465K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	465	Adenylate kinase.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GATTTATGAAAGAAAAGCTAA	0.294																																						uc001yfn.2		NA																	0				ovary(1)	1						c.(1393-1395)AAA>AAG		adenylate kinase 7							59.0	58.0	58.0					14																	96937852		2203	4298	6501	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96937852A>G	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1395A>G	14.37:g.96937852A>G							p.K465K	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	13	1439	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	465			Adenylate kinase.		Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.1395A>G	CCDS9945.1																																																																																				0.294	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			4	32	0	0	0	0	4	32				
RYR3	6263	broad.mit.edu	37	15	33944987	33944987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:33944987G>A	ENST00000389232.4	+	32	4281	c.4211G>A	c.(4210-4212)cGg>cAg	p.R1404Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R1404Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1404	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATCAAATCGGAGCAACGTG	0.537																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(4210-4212)CGG>CAG		ryanodine receptor 3							106.0	108.0	108.0					15																	33944987		2037	4203	6240	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33944987G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4211G>A	15.37:g.33944987G>A	ENSP00000373884:p.Arg1404Gln					RYR3_uc010bar.2_Missense_Mutation_p.R1404Q	p.R1404Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	32	4281	+		all_lung(180;7.18e-09)	1404			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4211G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019283	0.75275	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96651	-4.08;-4.08	5.52	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	L	0.55481	1.735	0.53005	D	0.999969	D;D	0.76494	0.999;0.999	P;D	0.72982	0.79;0.979	D	0.95207	0.8322	10	0.48119	T	0.1	.	9.8113	0.40824	0.0711:0.0:0.7914:0.1376	.	1404;1404	Q15413-2;Q15413	.;RYR3_HUMAN	Q	1404	ENSP00000373884:R1404Q;ENSP00000399610:R1404Q	ENSP00000354735:R1404Q	R	+	2	0	RYR3	31732279	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	6.439000	0.73430	2.866000	0.98385	0.650000	0.86243	CGG		0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			11	50	0	0	0	0	11	50				
UNC13C	440279	broad.mit.edu	37	15	54306702	54306702	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:54306702C>T	ENST00000260323.11	+	1	1602	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	UNC13C_ENST00000537900.1_Silent_p.L534L|UNC13C_ENST00000545554.1_Silent_p.L534L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	534					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAACACCTCTCTGGCACTCAC	0.358																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(1600-1602)CTC>CTT		unc-13 homolog C							59.0	58.0	58.0					15																	54306702		1853	4112	5965	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306702C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1602C>T	15.37:g.54306702C>T							p.L534L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1602	+			534					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1602C>T	CCDS45264.1																																																																																				0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	61	0	0	0	0	7	61				
PYGO1	26108	broad.mit.edu	37	15	55838897	55838897	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:55838897A>T	ENST00000302000.6	-	3	678	c.584T>A	c.(583-585)gTt>gAt	p.V195D	PYGO1_ENST00000563719.1_Missense_Mutation_p.V195D	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	195	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGGGTTAGAAACTTGGCTAGC	0.348																																						uc010bfl.1		NA																	0				ovary(1)|skin(1)	2						c.(583-585)GTT>GAT		pygopus homolog 1							73.0	77.0	75.0					15																	55838897		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838897A>T	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.584T>A	15.37:g.55838897A>T	ENSP00000302327:p.Val195Asp					PYGO1_uc002adf.1_Missense_Mutation_p.V195D	p.V195D	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	640	-			195			Asn-rich.		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.584T>A	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.516670	0.44763	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.45668	0.89	4.99	4.99	0.66335	.	0.562820	0.17542	N	0.170496	T	0.26268	0.0641	N	0.14661	0.345	0.45852	D	0.998713	B;B	0.22604	0.021;0.072	B;B	0.25291	0.054;0.059	T	0.08700	-1.0709	10	0.36615	T	0.2	-2.8302	8.8221	0.35032	0.916:0.0:0.084:0.0	.	195;195	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	D	195	ENSP00000302327:V195D	ENSP00000302327:V195D	V	-	2	0	PYGO1	53626189	0.969000	0.33509	0.995000	0.50966	0.933000	0.57130	2.452000	0.44961	2.012000	0.59069	0.477000	0.44152	GTT		0.348	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		23	48	0	0	0	0	23	48				
LIPC	3990	broad.mit.edu	37	15	58724316	58724316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:58724316C>G	ENST00000356113.6	+	3	700	c.85C>G	c.(85-87)Cca>Gca	p.P29A	LIPC_ENST00000299022.5_Missense_Mutation_p.P29A|LIPC_ENST00000414170.3_Missense_Mutation_p.P29A|LIPC_ENST00000433326.2_Missense_Mutation_p.P29A|RP11-355N15.1_ENST00000561083.1_RNA			P11150	LIPC_HUMAN	lipase, hepatic	29					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGCCTGAAACCAGGTAAGAG	0.448																																						uc010bga.1		NA																	0				ovary(1)	1						c.(85-87)CCA>GCA		lipase C precursor							125.0	119.0	121.0					15																	58724316		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58724316C>G		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.85C>G	15.37:g.58724316C>G	ENSP00000348425:p.Pro29Ala					LIPC_uc010bfz.1_Missense_Mutation_p.P29A|LIPC_uc002afa.1_Missense_Mutation_p.P29A|LIPC_uc010bgb.1_5'UTR|LIPC_uc010ugy.1_Missense_Mutation_p.P29A	p.P29A	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	3	693	+		Colorectal(260;0.215)	29					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.85C>G	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	C	9.722	1.160022	0.21454	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.35	5.23	-0.439	0.12264	Lipase, N-terminal (1);	2.540700	0.01378	N	0.012803	D	0.84047	0.5386	M	0.68317	2.08	0.09310	N	1	B;B	0.30146	0.01;0.27	B;B	0.28916	0.015;0.096	T	0.61407	-0.7069	10	0.08837	T	0.75	.	1.1404	0.01764	0.3146:0.3645:0.144:0.1769	.	29;29	E7EUK6;P11150	.;LIPC_HUMAN	A	29	ENSP00000348425:P29A;ENSP00000395569:P29A;ENSP00000299022:P29A;ENSP00000395002:P29A	ENSP00000299022:P29A	P	+	1	0	LIPC	56511608	0.000000	0.05858	0.007000	0.13788	0.885000	0.51271	-0.180000	0.09754	0.048000	0.15891	0.551000	0.68910	CCA		0.448	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			16	76	0	0	0	0	16	76				
CILP	8483	broad.mit.edu	37	15	65491007	65491007	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:65491007G>C	ENST00000261883.4	-	9	1783	c.1617C>G	c.(1615-1617)ctC>ctG	p.L539L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	539					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCACAAATGTGAGCACCAGCC	0.522																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(1615-1617)CTC>CTG		cartilage intermediate layer protein							68.0	64.0	66.0					15																	65491007		2202	4299	6501	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491007G>C	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1617C>G	15.37:g.65491007G>C							p.L539L	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	1798	-			539					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.1617C>G	CCDS10203.1																																																																																				0.522	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		14	65	0	0	0	0	14	65				
CYP11A1	1583	broad.mit.edu	37	15	74636273	74636273	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:74636273T>C	ENST00000268053.6	-	4	840	c.686A>G	c.(685-687)gAg>gGg	p.E229G	CYP11A1_ENST00000358632.4_Missense_Mutation_p.E71G|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.E71G	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	229					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TCGCTGGGCCTCGGGGTTCAC	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2		NA																	0				ovary(2)	2						c.(685-687)GAG>GGG		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						127.0	121.0	123.0					15																	74636273		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636273T>C	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.686A>G	15.37:g.74636273T>C	ENSP00000268053:p.Glu229Gly					CYP11A1_uc002axs.2_Missense_Mutation_p.E71G|CYP11A1_uc010bjm.1_Missense_Mutation_p.E71G|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.E229G|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.E9G	p.E229G	NM_000781	NP_000772	P05108	CP11A_HUMAN			4	841	-			229					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.686A>G	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606457	0.66445	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.70399	-0.48;-0.48;-0.48	4.33	3.18	0.36537	.	0.051738	0.85682	D	0.000000	T	0.79667	0.4485	M	0.68952	2.095	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72625	0.978;0.963	T	0.80806	-0.1218	10	0.72032	D	0.01	-10.828	9.6901	0.40123	0.0:0.087:0.0:0.913	.	199;229	B4DTE5;P05108	.;CP11A_HUMAN	G	229;71;71;141	ENSP00000268053:E229G;ENSP00000351455:E71G;ENSP00000405488:E71G	ENSP00000268053:E229G	E	-	2	0	CYP11A1	72423326	1.000000	0.71417	0.969000	0.41365	0.692000	0.40212	5.619000	0.67729	1.617000	0.50277	0.439000	0.28862	GAG		0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			3	138	0	0	0	0	3	138				
RASGRF1	5923	broad.mit.edu	37	15	79382664	79382664	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:79382664G>A	ENST00000419573.3	-	1	451	c.177C>T	c.(175-177)agC>agT	p.S59S	RASGRF1_ENST00000558480.2_Silent_p.S59S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	59	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGGCCGCGAGCTCGAGTCGC	0.637																																						uc002beq.2		NA																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(175-177)AGC>AGT		Ras protein-specific guanine							76.0	61.0	66.0					15																	79382664		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79382664G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.177C>T	15.37:g.79382664G>A						RASGRF1_uc002bep.2_Silent_p.S59S|RASGRF1_uc002ber.3_Silent_p.S59S	p.S59S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			1	552	-			59			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.177C>T	CCDS10309.1																																																																																				0.637	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		8	102	0	0	0	0	8	102				
AGBL1	123624	broad.mit.edu	37	15	86940669	86940669	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:86940669G>T	ENST00000441037.2	+	17	2404	c.2309G>T	c.(2308-2310)gGt>gTt	p.G770V	AGBL1_ENST00000389298.3_Missense_Mutation_p.G501V|AGBL1_ENST00000421325.2_Missense_Mutation_p.G770V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	770					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTGATGAAGGGTACCTTGGAG	0.483																																						uc002blz.1		NA																	0					0						c.(2308-2310)GGT>GTT		ATP/GTP binding protein-like 1							145.0	141.0	142.0					15																	86940669		2016	4169	6185	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86940669G>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2309G>T	15.37:g.86940669G>T	ENSP00000413001:p.Gly770Val						p.G770V	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			17	2389	+			770					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2309G>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713941	0.89112	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.11495	2.77;2.77	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000001	T	0.50205	0.1602	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67292	-0.5707	10	0.87932	D	0	-22.9708	18.7311	0.91735	0.0:0.0:1.0:0.0	.	770	Q96MI9	CBPC4_HUMAN	V	799;770;501	ENSP00000397173:G770V;ENSP00000373949:G501V	ENSP00000373949:G501V	G	+	2	0	AGBL1	84741673	1.000000	0.71417	0.970000	0.41538	0.978000	0.69477	9.689000	0.98673	2.733000	0.93635	0.655000	0.94253	GGT		0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		21	73	1	0	4.35e-09	1.02e-08	21	73				
NTRK3	4916	broad.mit.edu	37	15	88472442	88472442	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:88472442A>T	ENST00000360948.2	-	16	2274	c.2113T>A	c.(2113-2115)Tac>Aac	p.Y705N	NTRK3_ENST00000542733.2_Missense_Mutation_p.Y607N|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y697N|NTRK3_ENST00000557856.1_Missense_Mutation_p.Y697N|NTRK3_ENST00000558676.1_Missense_Mutation_p.Y697N|NTRK3_ENST00000394480.2_Missense_Mutation_p.Y705N|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y705N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	705	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCGTGCTGTAGACATCTCTG	0.517			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(2113-2115)TAC>AAC		neurotrophic tyrosine kinase, receptor, type 3							110.0	104.0	106.0					15																	88472442		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88472442A>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2113T>A	15.37:g.88472442A>T	ENSP00000354207:p.Tyr705Asn	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.Y697N|NTRK3_uc002bmf.1_Missense_Mutation_p.Y705N|NTRK3_uc010upl.1_Missense_Mutation_p.Y607N|NTRK3_uc010bnh.1_Missense_Mutation_p.Y697N	p.Y705N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2275	-			705			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.2113T>A	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.538391	0.85917	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88040	0.6330	L	0.49513	1.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.997;0.998	D	0.87530	0.2452	10	0.41790	T	0.15	.	14.1992	0.65690	1.0:0.0:0.0:0.0	.	607;697;697;705;705	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	N	705;705;697;705;607	ENSP00000377990:Y705N;ENSP00000354207:Y705N;ENSP00000350356:Y697N;ENSP00000347397:Y705N;ENSP00000437773:Y607N	ENSP00000347397:Y705N	Y	-	1	0	NTRK3	86273446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.118000	0.94355	1.952000	0.56665	0.533000	0.62120	TAC		0.517	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				29	126	0	0	0	0	29	126				
BLM	641	broad.mit.edu	37	15	91304239	91304239	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:91304239G>C	ENST00000355112.3	+	7	1754	c.1636G>C	c.(1636-1638)Gaa>Caa	p.E546Q	BLM_ENST00000560509.1_Missense_Mutation_p.E546Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	546	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTTAGAAAGAGAAACCCAACC	0.338			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			0				ovary(3)|skin(2)|breast(1)	6						c.(1636-1638)GAA>CAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							64.0	66.0	65.0					15																	91304239		2198	4298	6496	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91304239G>C	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1636G>C	15.37:g.91304239G>C	ENSP00000347232:p.Glu546Gln					BLM_uc010uqh.1_Missense_Mutation_p.E546Q|BLM_uc010uqi.1_Missense_Mutation_p.E171Q|BLM_uc010bnx.2_Missense_Mutation_p.E546Q|BLM_uc002bps.1_Missense_Mutation_p.E108Q	p.E546Q	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		7	1733	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		546					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.1636G>C	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618665	0.28801	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.47869	0.83	5.72	-0.748	0.11087	.	0.586078	0.16369	N	0.217403	T	0.27594	0.0678	L	0.29908	0.895	0.09310	N	1	B;B;B	0.28128	0.148;0.201;0.148	B;B;B	0.24701	0.055;0.055;0.027	T	0.13522	-1.0506	10	0.23891	T	0.37	-9.0048	5.7828	0.18316	0.2435:0.2635:0.4931:0.0	.	546;171;546	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Q	546;199	ENSP00000347232:E546Q	ENSP00000347232:E546Q	E	+	1	0	BLM	89105243	0.016000	0.18221	0.001000	0.08648	0.603000	0.37013	1.899000	0.39818	-0.014000	0.14175	0.591000	0.81541	GAA		0.338	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			6	72	0	0	0	0	6	72				
CHD2	1106	broad.mit.edu	37	15	93540258	93540258	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr15:93540258A>G	ENST00000394196.4	+	29	4735	c.3667A>G	c.(3667-3669)Atc>Gtc	p.I1223V	CHD2_ENST00000557381.1_Missense_Mutation_p.I1223V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1223					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAATCCATTATCCAACATGA	0.378																																						uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(3667-3669)ATC>GTC		chromodomain helicase DNA binding protein 2							108.0	102.0	104.0					15																	93540258		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540258A>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3667A>G	15.37:g.93540258A>G	ENSP00000377747:p.Ile1223Val					CHD2_uc002bso.1_Missense_Mutation_p.I1223V	p.I1223V	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		29	4242	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1223					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3667A>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340166	0.24339	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.78595	-1.19;-1.19	5.64	5.64	0.86602	.	0.000000	0.34507	U	0.003919	T	0.63663	0.2530	N	0.25380	0.74	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.14578	0.003;0.011	T	0.58177	-0.7682	10	0.13853	T	0.58	-18.0644	11.2528	0.49037	0.929:0.0:0.071:0.0	.	1223;1223	O14647;O14647-2	CHD2_HUMAN;.	V	1223	ENSP00000377747:I1223V;ENSP00000451366:I1223V	ENSP00000377747:I1223V	I	+	1	0	CHD2	91341262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.900000	0.69853	2.279000	0.76181	0.528000	0.53228	ATC		0.378	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	36	0	0	0	0	3	36				
WDR90	197335	broad.mit.edu	37	16	703573	703573	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:703573C>A	ENST00000293879.4	+	12	1282	c.1282C>A	c.(1282-1284)Cag>Aag	p.Q428K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.Q428K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	428										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCTCGGCCCAGGCAAGGGC	0.652																																						uc002cii.1		NA																	0				ovary(1)	1						c.(1282-1284)CAG>AAG		WD repeat domain 90							64.0	71.0	69.0					16																	703573		2008	4166	6174	SO:0001583	missense	197335							g.chr16:703573C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1282C>A	16.37:g.703573C>A	ENSP00000293879:p.Gln428Lys					WDR90_uc002cig.1_Missense_Mutation_p.Q428K|WDR90_uc002cih.1_Missense_Mutation_p.Q429K|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank	p.Q428K	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			12	1336	+		Hepatocellular(780;0.0218)	428			WD 1.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.1282C>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561824	0.65538	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.01304	5.03;5.03	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.64402	U	0.000009	T	0.11153	0.0272	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.87578	0.998;0.994;0.997	T	0.01165	-1.1431	10	0.62326	D	0.03	.	16.7135	0.85392	0.0:1.0:0.0:0.0	.	428;429;428	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	K	428	ENSP00000448122:Q428K;ENSP00000293879:Q428K	ENSP00000293879:Q428K	Q	+	1	0	WDR90	643574	1.000000	0.71417	0.644000	0.29465	0.008000	0.06430	4.556000	0.60775	2.180000	0.69256	0.561000	0.74099	CAG		0.652	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		19	71	1	0	1.56e-12	3.78e-12	19	71				
WDR90	197335	broad.mit.edu	37	16	715788	715788	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:715788A>G	ENST00000293879.4	+	35	4421	c.4421A>G	c.(4420-4422)cAg>cGg	p.Q1474R	WDR90_ENST00000547543.1_3'UTR|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000315764.4_Missense_Mutation_p.Q73R|WDR90_ENST00000549091.1_Missense_Mutation_p.Q1476R|WDR90_ENST00000547944.1_Missense_Mutation_p.Q73R			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1474										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATCCAGTTCCAGGTGCTGAAC	0.701																																						uc002cii.1		NA																	0				ovary(1)	1						c.(4420-4422)CAG>CGG		WD repeat domain 90							36.0	44.0	41.0					16																	715788		2064	4198	6262	SO:0001583	missense	197335							g.chr16:715788A>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4421A>G	16.37:g.715788A>G	ENSP00000293879:p.Gln1474Arg					WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.Q89R|WDR90_uc010uul.1_Missense_Mutation_p.Q73R|WDR90_uc002cio.1_Missense_Mutation_p.Q73R|WDR90_uc010bqx.1_Missense_Mutation_p.Q73R|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.Q1474R	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			35	4475	+		Hepatocellular(780;0.0218)	1474					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4421A>G	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353812	0.82243	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.65549	1.6;1.6;-0.16;1.6	4.78	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060895	0.64402	D	0.000002	T	0.77916	0.4202	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.97110	0.999;0.999;0.986;1.0	T	0.76605	-0.2898	10	0.17369	T	0.5	.	13.4923	0.61402	1.0:0.0:0.0:0.0	.	73;73;73;1474	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	R	1476;1474;73;73	ENSP00000448122:Q1476R;ENSP00000293879:Q1474R;ENSP00000449576:Q73R;ENSP00000322808:Q73R	ENSP00000293879:Q1474R	Q	+	2	0	WDR90	655789	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.642000	0.91036	1.798000	0.52647	0.459000	0.35465	CAG		0.701	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		3	29	0	0	0	0	3	29				
NTN3	4917	broad.mit.edu	37	16	2522435	2522435	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:2522435G>C	ENST00000293973.1	+	1	936	c.733G>C	c.(733-735)Gca>Cca	p.A245P	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	245	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TTACTCCTACGCAGCCACCGA	0.652																																						uc002cqj.2		NA																	0				central_nervous_system(1)	1						c.(733-735)GCA>CCA		netrin 3 precursor							49.0	45.0	46.0					16																	2522435		2197	4296	6493	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522435G>C	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.733G>C	16.37:g.2522435G>C	ENSP00000293973:p.Ala245Pro					TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank	p.A245P	NM_006181	NP_006172	O00634	NET3_HUMAN			1	936	+			245			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.733G>C	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585543	0.46110	.	.	ENSG00000162068	ENST00000293973	T	0.80304	-1.36	3.94	1.65	0.23941	Laminin, N-terminal (3);	0.164894	0.42172	D	0.000751	T	0.74696	0.3750	M	0.67625	2.065	0.48830	D	0.999715	B	0.10296	0.003	B	0.17722	0.019	T	0.67457	-0.5666	10	0.87932	D	0	.	5.7289	0.18028	0.0:0.096:0.3409:0.563	.	245	O00634	NET3_HUMAN	P	245	ENSP00000293973:A245P	ENSP00000293973:A245P	A	+	1	0	NTN3	2462436	0.994000	0.37717	0.972000	0.41901	0.793000	0.44817	2.650000	0.46665	0.142000	0.18901	0.305000	0.20034	GCA		0.652	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		8	57	0	0	0	0	8	57				
RNF40	9810	broad.mit.edu	37	16	30776589	30776589	+	Missense_Mutation	SNP	G	G	A	rs560357910		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:30776589G>A	ENST00000324685.6	+	7	1294	c.859G>A	c.(859-861)Gag>Aag	p.E287K	C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.E287K|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.E287K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	287					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GTGGGACATCGAGAAGCTGCG	0.582																																						uc002dzq.2		NA																	0				central_nervous_system(1)	1						c.(859-861)GAG>AAG		ring finger protein 40							106.0	104.0	104.0					16																	30776589		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30776589G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.859G>A	16.37:g.30776589G>A	ENSP00000325677:p.Glu287Lys					RNF40_uc010caa.2_Missense_Mutation_p.E287K|RNF40_uc010cab.2_Missense_Mutation_p.E287K|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.E287K|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	p.E287K	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		7	982	+			287			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.859G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612531	0.96637	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.34275	1.62;1.37	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	M	0.80183	2.485	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.998	D;P;P	0.74023	0.982;0.838;0.88	T	0.63238	-0.6682	10	0.44086	T	0.13	-35.5362	18.5132	0.90925	0.0:0.0:1.0:0.0	.	287;287;287	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	K	287;287;136	ENSP00000325677:E287K;ENSP00000350563:E287K	ENSP00000325677:E287K	E	+	1	0	RNF40	30684090	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.465000	0.97660	2.667000	0.90743	0.563000	0.77884	GAG		0.582	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		10	66	0	0	0	0	10	66				
NUP93	9688	broad.mit.edu	37	16	56865903	56865903	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:56865903A>T	ENST00000308159.5	+	11	1356	c.1235A>T	c.(1234-1236)gAt>gTt	p.D412V	NUP93_ENST00000569842.1_Missense_Mutation_p.D412V|NUP93_ENST00000542526.1_Missense_Mutation_p.D289V|NUP93_ENST00000564887.1_Missense_Mutation_p.D289V	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	412					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAAACTGAGGATTACCTGTGG	0.502																																					Colon(33;610 796 1305 1705 38917)	uc002eka.2		NA																	0				ovary(1)|lung(1)	2						c.(1234-1236)GAT>GTT		nucleoporin 93kDa							144.0	123.0	130.0					16																	56865903		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56865903A>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1235A>T	16.37:g.56865903A>T	ENSP00000310668:p.Asp412Val					NUP93_uc002ekb.2_Missense_Mutation_p.D289V|NUP93_uc010vhi.1_Missense_Mutation_p.D289V	p.D412V	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN			11	1356	+			412					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.1235A>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094461	0.76870	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.74526	-0.85;-0.85	5.79	5.79	0.91817	.	0.092352	0.64402	D	0.000001	D	0.86306	0.5901	M	0.84948	2.725	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	D	0.88446	0.3045	10	0.72032	D	0.01	-23.4257	14.7013	0.69157	1.0:0.0:0.0:0.0	.	412	Q8N1F7	NUP93_HUMAN	V	412;289	ENSP00000310668:D412V;ENSP00000440235:D289V	ENSP00000310668:D412V	D	+	2	0	NUP93	55423404	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.310000	0.96267	2.218000	0.71995	0.533000	0.62120	GAT		0.502	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		17	94	0	0	0	0	17	94				
FAM96B	51647	broad.mit.edu	37	16	66969362	66969362	+	5'Flank	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:66969362C>G	ENST00000422424.2	-	0	0				CES2_ENST00000417689.1_Missense_Mutation_p.R6G|CES2_ENST00000317091.4_Missense_Mutation_p.R6G	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCTCAGTCCCGCTCTCCTAC	0.647																																						uc002eqr.2		NA																	0					0						c.(16-18)CGC>GGC		carboxylesterase 2 isoform 1							91.0	103.0	99.0					16																	66969362		2200	4300	6500	SO:0001631	upstream_gene_variant	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66969362C>G		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969362C>G	Exception_encountered					CES2_uc002eqq.2_Missense_Mutation_p.R6G|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank	p.R6G	NM_003869	NP_003860	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	1	1016	+		Ovarian(137;0.0563)	Error:Variant_position_missing_in_O00748_after_alignment						Missense_Mutation	SNP	ENST00000422424.2	37	c.16C>G	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387724	0.25031	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.67171	-0.25;-0.25	3.96	-7.73	0.01245	.	.	.	.	.	T	0.37812	0.1017	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	9	0.14252	T	0.57	.	6.307	0.21145	0.0:0.3816:0.2209:0.3975	.	6	A8K367	.	G	6	ENSP00000394452:R6G;ENSP00000317842:R6G	ENSP00000317842:R6G	R	+	1	0	CES2	65526863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.541000	0.00114	-1.448000	0.01941	-0.923000	0.02734	CGC		0.647	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062		11	129	0	0	0	0	11	129				
ZFHX3	463	broad.mit.edu	37	16	72984464	72984464	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:72984464G>C	ENST00000268489.5	-	3	3792	c.3120C>G	c.(3118-3120)ctC>ctG	p.L1040L	ZFHX3_ENST00000397992.5_Silent_p.L126L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1040					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGTTGCACTTGAGGTGCACGG	0.597																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(3118-3120)CTC>CTG		zinc finger homeobox 3 isoform A							120.0	93.0	102.0					16																	72984464		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72984464G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3120C>G	16.37:g.72984464G>C						ZFHX3_uc002fcl.2_Silent_p.L126L	p.L1040L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			3	3793	-		Ovarian(137;0.13)	1040			C2H2-type 8; atypical.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.3120C>G	CCDS10908.1																																																																																				0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		24	33	0	0	0	0	24	33				
BCO1	53630	broad.mit.edu	37	16	81298334	81298334	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:81298334C>T	ENST00000258168.2	+	5	1022	c.561C>T	c.(559-561)tcC>tcT	p.S187S	BCMO1_ENST00000425577.2_Silent_p.S118S	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGGGCACATCCATTGTGGAAA	0.428																																						uc002fgn.1		NA																	0					0						c.(559-561)TCC>TCT		beta-carotene 15,15'-monooxygenase							135.0	111.0	119.0					16																	81298334		2202	4300	6502	SO:0001819	synonymous_variant	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81298334C>T																												ENST00000258168.2:c.561C>T	16.37:g.81298334C>T						BCMO1_uc010vnp.1_Silent_p.S118S	p.S187S	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN			5	779	+			187						Silent	SNP	ENST00000258168.2	37	c.561C>T	CCDS10934.1																																																																																				0.428	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			10	38	0	0	0	0	10	38				
SPATA2L	124044	broad.mit.edu	37	16	89764695	89764695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr16:89764695C>T	ENST00000289805.5	-	3	390	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	SPATA2L_ENST00000335360.7_Missense_Mutation_p.V108M	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	108										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCACGTGCACGTAGCCCCCA	0.617																																						uc002foj.2		NA																	0					0						c.(322-324)GTG>ATG		spermatogenesis associated 2-like							136.0	141.0	139.0					16																	89764695		2198	4300	6498	SO:0001583	missense	124044							g.chr16:89764695C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.322G>A	16.37:g.89764695C>T	ENSP00000289805:p.Val108Met					SPATA2L_uc002fok.2_Missense_Mutation_p.V108M	p.V108M	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	387	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	108					D3DX85|Q8NHV3	Missense_Mutation	SNP	ENST00000289805.5	37	c.322G>A	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501771	0.64298	.	.	ENSG00000158792	ENST00000289805;ENST00000335360	.	.	.	4.72	4.72	0.59763	.	0.131128	0.52532	D	0.000074	T	0.76877	0.4049	M	0.67397	2.05	0.37239	D	0.90604	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.82568	-0.0392	9	0.87932	D	0	.	14.5995	0.68429	0.0:1.0:0.0:0.0	.	108;108	Q8IUW3-2;Q8IUW3	.;SPA2L_HUMAN	M	108	.	ENSP00000289805:V108M	V	-	1	0	SPATA2L	88292196	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.195000	0.51013	2.158000	0.67659	0.462000	0.41574	GTG		0.617	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		25	252	0	0	0	0	25	252				
KIF1C	10749	broad.mit.edu	37	17	4910344	4910344	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:4910344C>A	ENST00000320785.5	+	14	1657	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	434					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CACGGAGTCCCAGATTGGGCC	0.597																																					Melanoma(96;1023 1447 10250 19259 33730)	uc002gan.1		NA																	0				breast(2)	2						c.(1300-1302)CAG>AAG		kinesin family member 1C							46.0	49.0	48.0					17																	4910344		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4910344C>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1300C>A	17.37:g.4910344C>A	ENSP00000320821:p.Gln434Lys						p.Q434K	NM_006612	NP_006603	O43896	KIF1C_HUMAN			14	1626	+			434					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.1300C>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	9.031	0.987360	0.18889	.	.	ENSG00000129250	ENST00000320785	T	0.70869	-0.52	5.09	5.09	0.68999	.	.	.	.	.	T	0.45216	0.1331	N	0.05306	-0.075	0.34422	D	0.697526	B	0.13594	0.008	B	0.14578	0.011	T	0.45440	-0.9261	9	0.05351	T	0.99	.	12.4943	0.55918	0.0:0.831:0.169:0.0	.	434	O43896	KIF1C_HUMAN	K	434	ENSP00000320821:Q434K	ENSP00000320821:Q434K	Q	+	1	0	KIF1C	4851068	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.696000	0.47052	2.761000	0.94854	0.655000	0.94253	CAG		0.597	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			17	64	1	0	0.000566183	0.00115092	17	64				
NUP88	4927	broad.mit.edu	37	17	5323591	5323592	+	5'Flank	DNP	TG	TG	CT	rs368078192		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:5323591_5323592TG>CT	ENST00000573584.1	-	0	0				RPAIN_ENST00000574003.1_Missense_Mutation_p.W21L|RPAIN_ENST00000381209.3_Missense_Mutation_p.W21L|RPAIN_ENST00000536255.2_Missense_Mutation_p.W21L|RPAIN_ENST00000327154.6_Missense_Mutation_p.W21L|RPAIN_ENST00000405578.4_Missense_Mutation_p.W21L|RPAIN_ENST00000381208.5_Missense_Mutation_p.W21L	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CTCGCCGCCTTGGAAAGAGGCT	0.624																																						uc002gbq.2		NA																	0					0						c.(61-63)TGG>CTG		RPA interacting protein isoform b																																				SO:0001631	upstream_gene_variant	84268				DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding	g.chr17:5323591_5323592TG>CT	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1_1delinsCT	17.37:g.5323591_5323592delinsCT	Exception_encountered					NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Missense_Mutation_p.W21L|RPAIN_uc002gbp.1_Missense_Mutation_p.L74S|RPAIN_uc010vta.1_Missense_Mutation_p.W21L|RPAIN_uc010vtb.1_Missense_Mutation_p.W21L|RPAIN_uc002gbs.2_Missense_Mutation_p.L74S|RPAIN_uc002gbt.2_Missense_Mutation_p.W21L|RPAIN_uc002gbu.2_Missense_Mutation_p.L74S|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Missense_Mutation_p.W21L	p.W21L	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN			1	631_632	+			21					D3DTM2|Q9BWE5	Missense_Mutation	DNP	ENST00000573584.1	37	c.61_62TG>CT	CCDS11070.1																																																																																				0.624	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		12	35	0	0	0	0	12	35				
TP53	7157	broad.mit.edu	37	17	7577508	7577508	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:7577508T>G	ENST00000269305.4	-	7	962	c.773A>C	c.(772-774)gAa>gCa	p.E258A	TP53_ENST00000445888.2_Missense_Mutation_p.E258A|TP53_ENST00000420246.2_Missense_Mutation_p.E258A|TP53_ENST00000359597.4_Missense_Mutation_p.E258A|TP53_ENST00000455263.2_Missense_Mutation_p.E258A|TP53_ENST00000413465.2_Missense_Mutation_p.E258A|TP53_ENST00000574684.1_5'Flank	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	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E258G(8)|p.E258V(5)|p.E258A(5)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(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)	CCTGGAGTCTTCCAGTGTGAT	0.582		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		34	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Unknown(1)|Complex - insertion inframe(1)	p.E258K(37)|p.E258*(12)|p.E258Q(8)|p.E258D(8)|p.0?(7)|p.E258G(7)|p.E258V(5)|p.E258A(5)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)|p.E258fs*87(1)	large_intestine(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|liver(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|ovary(2)|stomach(1)|soft_tissue(1)|biliary_tract(1)|breast(1)|testis(1)|urinary_tract(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(772-774)GAA>GCA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							136.0	97.0	110.0					17																	7577508		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577508T>G	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.773A>C	17.37:g.7577508T>G	ENSP00000269305:p.Glu258Ala	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.E258A|TP53_uc002gih.2_Missense_Mutation_p.E258A|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126A|TP53_uc010cng.1_Missense_Mutation_p.E126A|TP53_uc002gii.1_Missense_Mutation_p.E126A|TP53_uc010cnh.1_Missense_Mutation_p.E258A|TP53_uc010cni.1_Missense_Mutation_p.E258A|TP53_uc002gij.2_Missense_Mutation_p.E258A|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E165A|TP53_uc002gio.2_Missense_Mutation_p.E126A	p.E258A	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	967	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	258		E -> Q (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> D (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.773A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581951	0.65992	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.88450	2.955	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	0.999;0.998;1.0;0.999;1.0	D	0.96495	0.9367	10	0.87932	D	0	-21.9865	12.3101	0.54924	0.0:0.0:0.0:1.0	.	258;258;258;258;258	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	A	258;258;258;258;258;258;247;126	ENSP00000410739:E258A;ENSP00000352610:E258A;ENSP00000269305:E258A;ENSP00000398846:E258A;ENSP00000391127:E258A;ENSP00000391478:E258A;ENSP00000425104:E126A	ENSP00000269305:E258A	E	-	2	0	TP53	7518233	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	6.025000	0.70864	2.074000	0.62210	0.379000	0.24179	GAA		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	29	0	0	0	0	14	29				
MYH10	4628	broad.mit.edu	37	17	8383805	8383805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:8383805C>T	ENST00000269243.4	-	37	5348	c.5210G>A	c.(5209-5211)cGg>cAg	p.R1737Q	NDEL1_ENST00000299734.7_Nonsense_Mutation_p.R323*|MYH10_ENST00000379980.4_Missense_Mutation_p.R1753Q|MYH10_ENST00000396239.1_Missense_Mutation_p.R1758Q|MYH10_ENST00000360416.3_Missense_Mutation_p.R1768Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1737					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGTGCGATCCGAGCTTCCAG	0.632																																						uc002gll.2		NA																	0				ovary(2)	2						c.(5209-5211)CGG>CAG		myosin, heavy polypeptide 10, non-muscle							69.0	49.0	56.0					17																	8383805		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8383805C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5210G>A	17.37:g.8383805C>T	ENSP00000269243:p.Arg1737Gln					MYH10_uc002glm.2_Missense_Mutation_p.R1768Q|MYH10_uc010cnx.2_Missense_Mutation_p.R1746Q	p.R1737Q	NM_005964	NP_005955	P35580	MYH10_HUMAN			37	5306	-			1737			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5210G>A	CCDS11144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.704641|6.704641	0.97776|0.97776	.|.	.|.	ENSG00000133026|ENSG00000166579	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980|ENST00000299734	D;T;T;T|.	0.81821|.	-1.54;-1.13;-1.24;-1.13|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Myosin tail (1);|.	0.000000|0.000000	0.42821|0.42821	D|D	0.000658|0.000658	T|.	0.63236|.	0.2494|.	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40638|.	0.725;0.678;0.725|.	P;B;P|.	0.45195|.	0.473;0.394;0.473|.	T|.	0.56420|.	-0.7982|.	10|.	0.59425|0.06494	D|T	0.04|0.89	.|.	18.4224|18.4224	0.90595|0.90595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1746;1768;1737|.	B2RWP9;F8VTL3;P35580|.	.;.;MYH10_HUMAN|.	Q|X	1737;1768;1758;1753|323	ENSP00000269243:R1737Q;ENSP00000353590:R1768Q;ENSP00000379539:R1758Q;ENSP00000369315:R1753Q|.	ENSP00000269243:R1737Q|ENSP00000299734:R323X	R|R	-|+	2|1	0|2	MYH10|NDEL1	8324530|8324530	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.857000|0.857000	0.48899|0.48899	7.609000|7.609000	0.82925|0.82925	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CGG|CGA		0.632	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			10	12	0	0	0	0	10	12				
TBC1D28	254272	broad.mit.edu	37	17	18542504	18542504	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:18542504C>G	ENST00000345096.4	-	5	881	c.182G>C	c.(181-183)aGt>aCt	p.S61T	TBC1D28_ENST00000575570.1_5'Flank|TBC1D28_ENST00000405044.1_Missense_Mutation_p.S61T			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	61							Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						CTCCAGGGCACTGACGCGGGG	0.652																																						uc002gud.2		NA																	0				ovary(1)	1						c.(181-183)AGT>ACT		TBC1 domain family, member 28							99.0	108.0	105.0					17																	18542504		2194	4298	6492	SO:0001583	missense	254272					intracellular	Rab GTPase activator activity	g.chr17:18542504C>G		CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.182G>C	17.37:g.18542504C>G	ENSP00000339973:p.Ser61Thr						p.S61T	NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN			6	594	-			61					Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	c.182G>C	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.712652	0.00712	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.26518	1.73;1.73	0.418	0.418	0.16429	.	0.407810	0.25233	N	0.032146	T	0.10380	0.0254	N	0.21448	0.665	0.09310	N	1	P	0.35700	0.516	B	0.29176	0.099	T	0.32107	-0.9919	9	0.07030	T	0.85	.	.	.	.	.	61	Q2M2D7	TBC28_HUMAN	T	61	ENSP00000339973:S61T;ENSP00000385821:S61T	ENSP00000339973:S61T	S	-	2	0	TBC1D28	18483229	0.012000	0.17670	0.001000	0.08648	0.001000	0.01503	0.292000	0.19011	0.476000	0.27440	0.479000	0.44913	AGT		0.652	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		20	31	0	0	0	0	20	31				
SLC13A2	9058	broad.mit.edu	37	17	26822750	26822750	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:26822750C>T	ENST00000314669.5	+	10	1806	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	SLC13A2_ENST00000537681.1_Silent_p.I391I|SLC13A2_ENST00000444914.3_Silent_p.I511I|SLC13A2_ENST00000545060.1_Silent_p.I419I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	462					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TTGCCATCATCCTCTCCCTCC	0.612																																						uc002hbh.2		NA																	0					0						c.(1384-1386)ATC>ATT		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						157.0	127.0	137.0					17																	26822750		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26822750C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1386C>T	17.37:g.26822750C>T						SLC13A2_uc010wam.1_Silent_p.I418I|SLC13A2_uc010wan.1_Silent_p.I511I|SLC13A2_uc010wao.1_Silent_p.I419I|SLC13A2_uc002hbi.2_Silent_p.I391I	p.I462I	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	10	1453	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		462			Helical; (Potential).		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.1386C>T	CCDS11231.1																																																																																				0.612	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		51	112	0	0	0	0	51	112				
MED24	9862	broad.mit.edu	37	17	38179592	38179592	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:38179592G>T	ENST00000394128.2	-	20	2123	c.2042C>A	c.(2041-2043)aCa>aAa	p.T681K	MED24_ENST00000394127.2_Missense_Mutation_p.T668K|MED24_ENST00000394126.1_Missense_Mutation_p.T706K|MED24_ENST00000356271.3_Missense_Mutation_p.T668K|MED24_ENST00000501516.3_Missense_Mutation_p.T700K	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	681					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CTGCGTGGCTGTCTGCTGCAG	0.612																																						uc002htt.2		NA																	0				ovary(1)	1						c.(2041-2043)ACA>AAA		mediator complex subunit 24 isoform 1							63.0	51.0	55.0					17																	38179592		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38179592G>T	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2042C>A	17.37:g.38179592G>T	ENSP00000377686:p.Thr681Lys					MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Missense_Mutation_p.T16K|MED24_uc010wes.1_Missense_Mutation_p.T541K|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.T706K|MED24_uc002htu.2_Missense_Mutation_p.T668K|MED24_uc010cwn.2_Missense_Mutation_p.T668K|MED24_uc010weu.1_Missense_Mutation_p.T591K|MED24_uc010wev.1_Missense_Mutation_p.T631K|MED24_uc010wew.1_Missense_Mutation_p.T622K	p.T681K	NM_014815	NP_055630	O75448	MED24_HUMAN			20	2355	-	Colorectal(19;0.000442)		681					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.2042C>A	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.880085	0.33162	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T;T	0.49432	1.0;0.78;0.78;0.78	4.56	3.6	0.41247	Mediator complex, subunit Med24, N-terminal (1);	0.052665	0.85682	D	0.000000	T	0.44871	0.1314	L	0.38531	1.155	0.58432	D	0.999998	B;P;B;P;P;P	0.44816	0.22;0.844;0.288;0.728;0.77;0.728	B;P;B;P;P;P	0.48598	0.069;0.447;0.069;0.447;0.583;0.447	T	0.31081	-0.9956	10	0.37606	T	0.19	-11.979	11.7469	0.51825	0.0849:0.0:0.915:0.0	.	631;591;591;668;681;623	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	K	681;681;681;631;668;623;242;152;591	ENSP00000348610:T681K;ENSP00000377686:T681K;ENSP00000443344:T631K;ENSP00000377685:T668K	ENSP00000348610:T681K	T	-	2	0	MED24	35433118	1.000000	0.71417	0.932000	0.37286	0.719000	0.41307	7.533000	0.81994	1.136000	0.42199	-0.136000	0.14681	ACA		0.612	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		16	33	1	0	1.03e-11	2.47e-11	16	33				
PLEKHH3	79990	broad.mit.edu	37	17	40825796	40825796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:40825796G>A	ENST00000591022.1	-	4	742	c.355C>T	c.(355-357)Cga>Tga	p.R119*	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.R119*|PLEKHH3_ENST00000293349.6_Nonsense_Mutation_p.R119*	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	119	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AACCAGGCTCGGCGCGGGGGC	0.697																																						uc002iau.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(355-357)CGA>TGA		pleckstrin homology domain containing, family H							5.0	7.0	6.0					17																	40825796		2022	3979	6001	SO:0001587	stop_gained	79990				signal transduction	cytoskeleton		g.chr17:40825796G>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.355C>T	17.37:g.40825796G>A	ENSP00000468678:p.Arg119*					PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_5'UTR|PLEKHH3_uc002iaw.2_Nonsense_Mutation_p.R119*	p.R119*	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	4	822	-		Breast(137;0.00116)	119			PH.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Nonsense_Mutation	SNP	ENST00000591022.1	37	c.355C>T	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.421432	0.98272	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	.	.	.	4.78	-0.324	0.12706	.	0.000000	0.44688	D	0.000425	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-17.3932	13.3753	0.60734	0.0:0.0:0.238:0.762	.	.	.	.	X	119	.	ENSP00000293349:R119X	R	-	1	2	PLEKHH3	38079322	0.498000	0.26075	0.996000	0.52242	0.881000	0.50899	0.493000	0.22451	0.144000	0.18951	0.591000	0.81541	CGA		0.697	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		7	5	0	0	0	0	7	5				
EFTUD2	9343	broad.mit.edu	37	17	42930947	42930947	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:42930947G>T	ENST00000426333.2	-	24	2701	c.2404C>A	c.(2404-2406)Cac>Aac	p.H802N	EFTUD2_ENST00000402521.3_Missense_Mutation_p.H767N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H802N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.H792N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	802					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCGCCCCGGTGCAGGGGCTCC	0.592																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2		NA																	0				ovary(1)	1						c.(2404-2406)CAC>AAC		elongation factor Tu GTP binding domain							41.0	41.0	41.0					17																	42930947		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42930947G>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2404C>A	17.37:g.42930947G>T	ENSP00000392094:p.His802Asn					EFTUD2_uc010wje.1_Missense_Mutation_p.H767N|EFTUD2_uc010wjf.1_Missense_Mutation_p.H792N	p.H802N	NM_004247	NP_004238	Q15029	U5S1_HUMAN			24	2665	-		Prostate(33;0.109)	802					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2404C>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598876	0.66332	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.34859	1.34;1.34	4.68	4.68	0.58851	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.86268	2.805	0.80722	D	1	P;B	0.45768	0.866;0.205	P;B	0.48770	0.589;0.292	T	0.65977	-0.6037	10	0.87932	D	0	-20.8358	17.7902	0.88550	0.0:0.0:1.0:0.0	.	792;802	B4DMC0;Q15029	.;U5S1_HUMAN	N	802;792;767	ENSP00000392094:H802N;ENSP00000385873:H767N	ENSP00000262414:H792N	H	-	1	0	EFTUD2	40286473	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.263000	0.95617	2.426000	0.82243	0.563000	0.77884	CAC		0.592	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		6	57	1	0	5.94e-07	1.32e-06	6	57				
TOB1	10140	broad.mit.edu	37	17	48941307	48941307	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:48941307A>G	ENST00000268957.3	-	3	500	c.72T>C	c.(70-72)cgT>cgC	p.R24R	TOB1_ENST00000509385.1_5'UTR|TOB1-AS1_ENST00000523470.1_RNA|TOB1-AS1_ENST00000416263.3_RNA|TOB1_ENST00000499247.2_Silent_p.R24R	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	24					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.R22fs*5(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AAATGTTGACACGTCTCCTGG	0.373																																					NSCLC(144;643 1919 24513 29423 40686)	uc002isw.2		NA																	1	Deletion - Frameshift(1)		liver(1)	large_intestine(1)	1						c.(70-72)CGT>CGC		transducer of ERBB2, 1							80.0	83.0	82.0					17																	48941307		2203	4300	6503	SO:0001819	synonymous_variant	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48941307A>G	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.72T>C	17.37:g.48941307A>G						TOB1_uc010wmy.1_Silent_p.R24R|TOB1_uc010wmz.1_Silent_p.R24R|uc002isy.2_5'Flank	p.R24R	NM_005749	NP_005740	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	107	-			24					B2R9T0|D3DTY3|Q4KMQ0	Silent	SNP	ENST00000268957.3	37	c.72T>C	CCDS11576.1																																																																																				0.373	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			11	101	0	0	0	0	11	101				
EPX	8288	broad.mit.edu	37	17	56271376	56271376	+	Missense_Mutation	SNP	G	G	C	rs150719520		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:56271376G>C	ENST00000225371.5	+	5	627	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	173					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CTGGCTGCCCGCCGAGTATGA	0.652																																						uc002ivq.2		NA																	0				ovary(2)	2						c.(517-519)GCC>CCC		eosinophil peroxidase preproprotein							26.0	29.0	28.0					17																	56271376		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56271376G>C	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.517G>C	17.37:g.56271376G>C	ENSP00000225371:p.Ala173Pro						p.A173P	NM_000502	NP_000493	P11678	PERE_HUMAN			5	603	+			173					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.517G>C	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711764	0.48517	.	.	ENSG00000121053	ENST00000225371	T	0.70282	-0.47	3.97	3.97	0.46021	.	0.107787	0.64402	D	0.000005	T	0.71978	0.3404	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67914	-0.5547	10	0.21540	T	0.41	-23.0276	13.9001	0.63797	0.0:0.0:1.0:0.0	.	173	P11678	PERE_HUMAN	P	173	ENSP00000225371:A173P	ENSP00000225371:A173P	A	+	1	0	EPX	53626375	0.998000	0.40836	0.797000	0.32132	0.299000	0.27559	3.421000	0.52742	2.195000	0.70347	0.448000	0.29417	GCC		0.652	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		13	51	0	0	0	0	13	51				
CD300A	11314	broad.mit.edu	37	17	72469713	72469713	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:72469713C>A	ENST00000360141.3	+	2	367	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	27	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CGTGGCGGGCCCCGTGGGGGG	0.562																																						uc002jkv.2		NA																	0				ovary(1)|skin(1)	2						c.(79-81)CCC>ACC		leukocyte membrane antigen							60.0	66.0	64.0					17																	72469713		2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469713C>A	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.79C>A	17.37:g.72469713C>A	ENSP00000353259:p.Pro27Thr					CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron	p.P27T	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			2	400	+			27			Extracellular (Potential).|Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.79C>A	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.668309	0.00765	.	.	ENSG00000167851	ENST00000360141	T	0.65178	-0.14	4.06	0.465	0.16711	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.907386	0.09125	N	0.845162	T	0.24586	0.0596	N	0.01352	-0.895	0.09310	N	0.999999	B	0.25169	0.119	B	0.23275	0.045	T	0.27088	-1.0084	10	0.02654	T	1	.	4.875	0.13651	0.678:0.1827:0.1393:0.0	.	27	Q9UGN4	CLM8_HUMAN	T	27	ENSP00000353259:P27T	ENSP00000353259:P27T	P	+	1	0	CD300A	69981308	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.121000	0.03270	-0.055000	0.13244	0.305000	0.20034	CCC		0.562	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		19	89	1	0	1.16e-05	2.48e-05	19	89				
QRICH2	84074	broad.mit.edu	37	17	74271917	74271917	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:74271917G>A	ENST00000262765.5	-	18	5146	c.4967C>T	c.(4966-4968)tCg>tTg	p.S1656L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1656										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTTGCCAGCCGAAATCTGGGC	0.672																																						uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(4966-4968)TCG>TTG		glutamine rich 2							67.0	56.0	60.0					17																	74271917		2202	4300	6502	SO:0001583	missense	84074						protein binding	g.chr17:74271917G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4967C>T	17.37:g.74271917G>A	ENSP00000262765:p.Ser1656Leu					QRICH2_uc010wsz.1_Silent_p.F1348F|QRICH2_uc010dgw.1_Missense_Mutation_p.S500L	p.S1656L	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			18	5147	-			1656					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4967C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	0.139	-1.104494	0.01828	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.06528	3.29	3.63	0.256	0.15567	.	.	.	.	.	T	0.01976	0.0062	N	0.01267	-0.92	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.48352	-0.9043	9	0.20519	T	0.43	-0.7247	5.7006	0.17881	0.6095:0.0:0.3905:0.0	.	1656	Q9H0J4	QRIC2_HUMAN	L	1656;1422	ENSP00000262765:S1656L	ENSP00000262765:S1656L	S	-	2	0	QRICH2	71783512	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.273000	0.08548	0.005000	0.14708	-0.367000	0.07326	TCG		0.672	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		10	32	0	0	0	0	10	32				
RNF213	57674	broad.mit.edu	37	17	78319512	78319512	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:78319512G>C	ENST00000582970.1	+	29	7520	c.7377G>C	c.(7375-7377)atG>atC	p.M2459I	RNF213_ENST00000508628.2_Missense_Mutation_p.M2508I|RNF213_ENST00000336301.6_Missense_Mutation_p.M532I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2459					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCAGACATGATCTACTCCA	0.488																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(1594-1596)ATG>ATC		ring finger protein 213							108.0	99.0	102.0					17																	78319512		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319512G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7377G>C	17.37:g.78319512G>C	ENSP00000464087:p.Met2459Ile						p.M532I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	1819	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.1596G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	3.378	-0.126916	0.06795	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.42900	0.96	5.42	2.09	0.27110	ATPase, AAA+ type, core (1);	0.046816	0.85682	D	0.000000	T	0.30039	0.0752	L	0.47716	1.5	0.23186	N	0.998152	B	0.10296	0.003	B	0.09377	0.004	T	0.19128	-1.0315	10	0.49607	T	0.09	.	3.9871	0.09521	0.1111:0.2707:0.4797:0.1385	.	532	Q63HN8	RN213_HUMAN	I	2459;2508;532	ENSP00000338218:M532I	ENSP00000338218:M532I	M	+	3	0	RNF213	75934107	1.000000	0.71417	0.358000	0.25811	0.026000	0.11368	1.923000	0.40055	0.803000	0.34113	0.655000	0.94253	ATG		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		17	106	0	0	0	0	17	106				
RNF213	57674	broad.mit.edu	37	17	78360548	78360548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:78360548C>T	ENST00000582970.1	+	63	14922	c.14779C>T	c.(14779-14781)Cgg>Tgg	p.R4927W	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4976W|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3000W|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4927					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAAGTGGAGCGGGACCTGAC	0.572																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(8998-9000)CGG>TGG		ring finger protein 213							85.0	74.0	78.0					17																	78360548		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78360548C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14779C>T	17.37:g.78360548C>T	ENSP00000464087:p.Arg4927Trp					uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR	p.R3000W	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		38	9221	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.8998C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572176	0.65765	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.26810	1.71	5.04	5.04	0.67666	.	0.240528	0.33127	N	0.005254	T	0.51193	0.1660	M	0.82923	2.615	0.29505	N	0.854639	D	0.89917	1.0	D	0.69654	0.965	T	0.56408	-0.7984	10	0.87932	D	0	.	11.7251	0.51704	0.3039:0.6961:0.0:0.0	.	3000	Q63HN8	RN213_HUMAN	W	4927;4976;3000;277	ENSP00000338218:R3000W	ENSP00000338218:R3000W	R	+	1	2	RNF213	75975143	0.995000	0.38212	0.988000	0.46212	0.744000	0.42396	2.248000	0.43160	2.353000	0.79882	0.561000	0.74099	CGG		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		35	36	0	0	0	0	35	36				
LRRC45	201255	broad.mit.edu	37	17	79986313	79986313	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:79986313A>T	ENST00000306688.3	+	11	1508	c.1166A>T	c.(1165-1167)cAg>cTg	p.Q389L		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	389						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGCAGGAGCAGCTGTTCCAG	0.662																																						uc002kde.2		NA																	0				pancreas(1)	1						c.(1165-1167)CAG>CTG		leucine rich repeat containing 45							40.0	43.0	42.0					17																	79986313		2193	4295	6488	SO:0001583	missense	201255					centrosome		g.chr17:79986313A>T	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1166A>T	17.37:g.79986313A>T	ENSP00000306760:p.Gln389Leu						p.Q389L	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		11	1406	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		389			Potential.			Missense_Mutation	SNP	ENST00000306688.3	37	c.1166A>T	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474700	0.26511	.	.	ENSG00000169683	ENST00000306688	T	0.40476	1.03	3.93	2.79	0.32731	.	0.314992	0.31199	N	0.008065	T	0.29355	0.0731	L	0.46741	1.465	0.42123	D	0.991433	B	0.09022	0.002	B	0.09377	0.004	T	0.11251	-1.0595	9	.	.	.	-26.9339	4.9392	0.13956	0.7295:0.0:0.1035:0.1671	.	389	Q96CN5	LRC45_HUMAN	L	389	ENSP00000306760:Q389L	.	Q	+	2	0	LRRC45	77579602	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	2.828000	0.48120	1.641000	0.50575	0.459000	0.35465	CAG		0.662	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		16	87	0	0	0	0	16	87				
FN3KRP	79672	broad.mit.edu	37	17	80684370	80684371	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:80684370_80684371GG>TT	ENST00000269373.6	+	5	556_557	c.483_484GG>TT	c.(481-486)caGGag>caTTag	p.161_162QE>H*	FN3KRP_ENST00000535965.1_Nonsense_Mutation_p.111_112QE>H*|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	161							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ATGACTGGCAGGAGGACTGGGT	0.559																																						uc002kfu.2		NA																	0					0						c.(481-486)CAGGAG>CATTAG		fructosamine 3 kinase related protein																																				SO:0001587	stop_gained	79672						kinase activity	g.chr17:80684370_80684371GG>TT	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	Exception_encountered	17.37:g.80684370_80684371delinsTT	ENSP00000269373:p.Q161_E162delinsH*					FN3KRP_uc010wvr.1_Nonsense_Mutation_p.111_112QE>H*	p.161_162QE>H*	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		5	533_534	+	Breast(20;0.000523)|all_neural(118;0.0952)		161_162					Q969F4|Q9H0U7	Nonsense_Mutation	DNP	ENST00000269373.6	37	c.483_484GG>TT	CCDS11817.1																																																																																				0.559	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		98	207	0	0	0	0	98	207				
EPB41L3	23136	broad.mit.edu	37	18	5397303	5397303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:5397303G>T	ENST00000341928.2	-	18	2935	c.2595C>A	c.(2593-2595)caC>caA	p.H865Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.H643Q|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H162Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H643Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H865Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H696Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H170Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	865	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCCACTCGCGTGCACCACAC	0.617																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2593-2595)CAC>CAA		erythrocyte membrane protein band 4.1-like 3							66.0	63.0	64.0					18																	5397303		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397303G>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2595C>A	18.37:g.5397303G>T	ENSP00000343158:p.His865Gln					EPB41L3_uc010wzh.1_Missense_Mutation_p.H696Q|EPB41L3_uc002kmu.1_Missense_Mutation_p.H643Q|EPB41L3_uc010dkq.1_Missense_Mutation_p.H534Q|EPB41L3_uc002kms.1_Missense_Mutation_p.H100Q|EPB41L3_uc010wze.1_Missense_Mutation_p.H170Q|EPB41L3_uc010wzf.1_Missense_Mutation_p.H162Q|EPB41L3_uc010wzg.1_Missense_Mutation_p.H137Q|EPB41L3_uc010dkr.2_Missense_Mutation_p.H257Q	p.H865Q	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2681	-			865			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2595C>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012452	0.19277	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.73	-6.24	0.02046	.	0.864778	0.10789	N	0.633912	T	0.38612	0.1047	M	0.71581	2.175	0.41997	D	0.990873	B;B;B;B;P;B;B;B	0.37276	0.007;0.091;0.086;0.016;0.589;0.004;0.016;0.041	B;B;B;B;B;B;B;B	0.28385	0.011;0.038;0.054;0.027;0.089;0.007;0.017;0.008	T	0.49960	-0.8883	10	0.16420	T	0.52	.	16.8238	0.85925	0.8911:0.0:0.1089:0.0	.	696;162;170;257;534;643;865;100	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	Q	865;534;696;534;162;170;865;643	ENSP00000343158:H865Q;ENSP00000441174:H696Q;ENSP00000392195:H162Q;ENSP00000442233:H170Q;ENSP00000341138:H865Q;ENSP00000382981:H643Q	ENSP00000343158:H865Q	H	-	3	2	EPB41L3	5387303	0.622000	0.27085	0.134000	0.22075	0.002000	0.02628	-0.309000	0.08145	-1.051000	0.03226	-0.189000	0.12847	CAC		0.617	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		29	41	1	0	7.68e-24	1.95e-23	29	41				
ANKRD12	23253	broad.mit.edu	37	18	9256148	9256148	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:9256148G>A	ENST00000262126.4	+	9	3123	c.2883G>A	c.(2881-2883)aaG>aaA	p.K961K	ANKRD12_ENST00000383440.2_Silent_p.K938K|ANKRD12_ENST00000400020.3_Silent_p.K938K	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	961						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAGATAAAAAGGAAAAATCTA	0.284																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2881-2883)AAG>AAA		ankyrin repeat domain 12 isoform 1							21.0	24.0	23.0					18																	9256148		2150	4220	6370	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9256148G>A	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2883G>A	18.37:g.9256148G>A						ANKRD12_uc002knw.2_Silent_p.K938K|ANKRD12_uc002knx.2_Silent_p.K938K|ANKRD12_uc010dkx.1_Silent_p.K668K	p.K961K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	3140	+			961					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.2883G>A	CCDS11843.1																																																																																				0.284	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		4	19	0	0	0	0	4	19				
PIK3C3	5289	broad.mit.edu	37	18	39618758	39618758	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr18:39618758A>C	ENST00000262039.4	+	18	2068	c.1982A>C	c.(1981-1983)gAa>gCa	p.E661A	PIK3C3_ENST00000593098.1_Missense_Mutation_p.E146A|PIK3C3_ENST00000587402.1_Missense_Mutation_p.E8A|PIK3C3_ENST00000589056.1_Missense_Mutation_p.E8A|PIK3C3_ENST00000398870.3_Missense_Mutation_p.E598A	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	661	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTACGGAAAGAAAATCTGGAC	0.299										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NA																	0				lung(8)|ovary(1)|breast(1)	10						c.(1981-1983)GAA>GCA		catalytic phosphatidylinositol 3-kinase 3							69.0	74.0	72.0					18																	39618758		2202	4300	6502	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39618758A>C	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1982A>C	18.37:g.39618758A>C	ENSP00000262039:p.Glu661Ala	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.E598A|PIK3C3_uc002laq.2_Missense_Mutation_p.E146A|PIK3C3_uc002lar.1_Missense_Mutation_p.E45A	p.E661A	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			18	2040	+			661			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1982A>C	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693483	0.88735	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.78595	-1.19;-1.19	5.96	5.96	0.96718	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	L	0.59912	1.85	0.80722	D	1	P;D;P	0.89917	0.687;1.0;0.894	P;D;P	0.80764	0.603;0.994;0.832	D	0.85154	0.0988	9	.	.	.	.	16.4343	0.83869	1.0:0.0:0.0:0.0	.	598;598;661	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	A	661;598	ENSP00000262039:E661A;ENSP00000381845:E598A	.	E	+	2	0	PIK3C3	37872756	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.799000	0.91895	2.285000	0.76669	0.528000	0.53228	GAA		0.299	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		10	30	0	0	0	0	10	30				
ABHD17A	81926	broad.mit.edu	37	19	1881347	1881347	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:1881347A>G	ENST00000292577.7	-	2	652	c.219T>C	c.(217-219)cgT>cgC	p.R73R	ABHD17A_ENST00000590661.1_Silent_p.R73R|ABHD17A_ENST00000250974.9_Silent_p.R73R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	73						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGAAGTCGGCACGCTCCGTCA	0.716																																						uc002lug.2		NA																	0					0						c.(217-219)CGT>CGC		hypothetical protein LOC81926 isoform 2							19.0	22.0	21.0					19																	1881347		2188	4262	6450	SO:0001819	synonymous_variant	81926					extracellular region	hydrolase activity	g.chr19:1881347A>G	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.219T>C	19.37:g.1881347A>G						FAM108A1_uc002lud.2_Silent_p.R73R|FAM108A1_uc002lue.2_Silent_p.R73R|FAM108A1_uc002luf.2_Silent_p.R73R	p.R73R	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	625	-		Ovarian(11;0.000137)	73					A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	c.219T>C	CCDS45902.1																																																																																				0.716	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		4	52	0	0	0	0	4	52				
VAV1	7409	broad.mit.edu	37	19	6854109	6854109	+	Splice_Site	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:6854109G>T	ENST00000602142.1	+	26	2566	c.2484G>T	c.(2482-2484)cgG>cgT	p.R828R	VAV1_ENST00000304076.2_Splice_Site_p.R806R|VAV1_ENST00000599806.1_Splice_Site_p.R773R|VAV1_ENST00000596764.1_Splice_Site_p.R796R|VAV1_ENST00000539284.1_Splice_Site_p.R731R	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	828	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCTATGGCCGGGTGAGGCAGG	0.622																																						uc002mfu.1		NA																	0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(2482-2484)CGG>CGT		vav 1 guanine nucleotide exchange factor							65.0	57.0	60.0					19																	6854109		2203	4300	6503	SO:0001630	splice_region_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6854109G>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2484+1G>T	19.37:g.6854109G>T						VAV1_uc010xjh.1_Silent_p.R796R|VAV1_uc010dva.1_Silent_p.R806R|VAV1_uc002mfv.1_Silent_p.R773R	p.R828R	NM_005428	NP_005419	P15498	VAV_HUMAN			26	2581	+			828			SH3 2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2484G>T	CCDS12174.1																																																																																				0.622	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		Silent	8	31	1	0	3.1e-07	6.91e-07	8	31				
ICAM1	3383	broad.mit.edu	37	19	10385697	10385697	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:10385697C>A	ENST00000264832.3	+	2	649	c.324C>A	c.(322-324)acC>acA	p.T108T	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	108					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCTTCCTCACCGTGTACTGTG	0.552																																						uc002mnq.2		NA																	0				ovary(1)	1						c.(322-324)ACC>ACA		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						93.0	94.0	93.0					19																	10385697		2202	4298	6500	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10385697C>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.324C>A	19.37:g.10385697C>A						ICAM1_uc010xle.1_Intron	p.T108T	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	643	+			108			Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.324C>A	CCDS12231.1																																																																																				0.552	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			22	104	1	0	3.62e-10	8.53e-10	22	104				
SMARCA4	6597	broad.mit.edu	37	19	11138619	11138619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:11138619G>T	ENST00000429416.3	+	25	3656	c.3375G>T	c.(3373-3375)agG>agT	p.R1125S	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1125S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1125S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1125S|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1125S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1125S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1125S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1125	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AATACCTCAGGCTTGATGGTG	0.512			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Unknown(2)	p.?(2)	lung(2)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3373-3375)AGG>AGT		SWI/SNF-related matrix-associated							151.0	147.0	148.0					19																	11138619		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11138619G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3375G>T	19.37:g.11138619G>T	ENSP00000395654:p.Arg1125Ser					SMARCA4_uc010dxp.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1125S|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1125S|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1125S|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1125S|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxt.1_Missense_Mutation_p.R345S|SMARCA4_uc002mqh.3_Missense_Mutation_p.R248S|SMARCA4_uc002mqi.1_Missense_Mutation_p.R328S	p.R1125S	NM_003072	NP_003063	P51532	SMCA4_HUMAN			24	3659	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1125			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3375G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540378	0.65085	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	5.04	3.98	0.46160	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98150	0.9389	M	0.92459	3.31	0.53688	D	0.999975	D;D;D;D;D;D;D;D	0.89917	0.992;0.998;0.998;1.0;0.989;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.87578	0.983;0.99;0.99;0.992;0.944;0.998;0.99;0.99	D	0.97866	1.0283	10	0.87932	D	0	-53.2145	9.3355	0.38047	0.1661:0.0:0.8339:0.0	.	1125;1125;1125;1125;1125;345;1125;1125	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	S	1125;1125;1189;1125;1125;1125;1125;1125	ENSP00000395654:R1125S;ENSP00000350720:R1125S;ENSP00000343896:R1125S;ENSP00000445036:R1125S;ENSP00000392837:R1125S;ENSP00000397783:R1125S;ENSP00000414727:R1125S	ENSP00000343896:R1125S	R	+	3	2	SMARCA4	10999619	0.994000	0.37717	1.000000	0.80357	0.939000	0.58152	0.274000	0.18680	2.617000	0.88574	0.655000	0.94253	AGG		0.512	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		43	89	1	0	2.54e-34	6.51e-34	43	89				
SWSAP1	126074	broad.mit.edu	37	19	11486363	11486363	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:11486363A>T	ENST00000312423.2	+	2	420	c.361A>T	c.(361-363)Aca>Tca	p.T121S	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	121					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										ACTTCTAGACACAGCTGCCCA	0.637																																						uc002mrg.1		NA																	0					0						c.(361-363)ACA>TCA		hypothetical protein LOC126074							73.0	71.0	71.0					19																	11486363		2203	4300	6503	SO:0001583	missense	126074							g.chr19:11486363A>T	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.361A>T	19.37:g.11486363A>T	ENSP00000310008:p.Thr121Ser						p.T121S	NM_175871	NP_787067	Q6NVH7	CS039_HUMAN			2	398	+			121					Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	c.361A>T	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286028	0.80803	.	.	ENSG00000173928	ENST00000312423	T	0.39229	1.09	5.32	5.32	0.75619	.	0.075962	0.53938	D	0.000056	T	0.57755	0.2075	L	0.53729	1.69	0.39480	D	0.967861	D	0.76494	0.999	D	0.87578	0.998	T	0.57974	-0.7718	10	0.36615	T	0.2	-12.485	12.8138	0.57654	1.0:0.0:0.0:0.0	.	121	Q6NVH7	CS039_HUMAN	S	121	ENSP00000310008:T121S	ENSP00000310008:T121S	T	+	1	0	C19orf39	11347363	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.324000	0.65863	2.014000	0.59158	0.533000	0.62120	ACA		0.637	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		76	54	0	0	0	0	76	54				
SIN3B	23309	broad.mit.edu	37	19	16977356	16977356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:16977356G>T	ENST00000248054.5	+	12	1816	c.1795G>T	c.(1795-1797)Gtc>Ttc	p.V599F	SIN3B_ENST00000379803.1_Missense_Mutation_p.V631F|SIN3B_ENST00000595541.1_Missense_Mutation_p.V189F					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATCGAGAGCGTCTACGACGA	0.622																																						uc002ney.1		NA																	0				ovary(2)	2						c.(1891-1893)GTC>TTC		SIN3 homolog B, transcription regulator							111.0	79.0	90.0					19																	16977356		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16977356G>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1795G>T	19.37:g.16977356G>T	ENSP00000248054:p.Val599Phe					SIN3B_uc002nez.1_Missense_Mutation_p.V599F|SIN3B_uc010xpi.1_Missense_Mutation_p.V189F	p.V631F	NM_015260	NP_056075	O75182	SIN3B_HUMAN			13	1905	+			631						Missense_Mutation	SNP	ENST00000248054.5	37	c.1891G>T		.	.	.	.	.	.	.	.	.	.	G	10.51	1.371313	0.24771	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.47528	0.84;0.84	4.96	2.83	0.33086	.	0.182484	0.47455	D	0.000230	T	0.40222	0.1108	L	0.46157	1.445	0.53005	D	0.999961	B;B;B	0.32051	0.006;0.354;0.065	B;B;B	0.35813	0.013;0.211;0.04	T	0.13045	-1.0524	10	0.31617	T	0.26	-7.9054	9.7357	0.40386	0.0738:0.0:0.7855:0.1407	.	189;599;631	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	F	631;599	ENSP00000369131:V631F;ENSP00000248054:V599F	ENSP00000248054:V599F	V	+	1	0	SIN3B	16838356	1.000000	0.71417	0.139000	0.22197	0.109000	0.19521	4.122000	0.57910	0.505000	0.28104	-0.336000	0.08194	GTC		0.622	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		29	20	1	0	2.66e-16	6.62e-16	29	20				
GMIP	51291	broad.mit.edu	37	19	19753398	19753398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:19753398C>G	ENST00000203556.4	-	2	187	c.50G>C	c.(49-51)aGg>aCg	p.R17T	GMIP_ENST00000445806.2_Missense_Mutation_p.R17T|GMIP_ENST00000587238.1_Missense_Mutation_p.R17T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	17					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTCACTGTACCTCTTCCTGCC	0.592																																						uc002nnd.2		NA																	0				ovary(1)	1						c.(49-51)AGG>ACG		GEM interacting protein							147.0	128.0	135.0					19																	19753398		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19753398C>G	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.50G>C	19.37:g.19753398C>G	ENSP00000203556:p.Arg17Thr					GMIP_uc010xrb.1_Missense_Mutation_p.R17T|GMIP_uc010xrc.1_Missense_Mutation_p.R17T	p.R17T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			2	167	-			17					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.50G>C	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443471	0.83993	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.24350	1.9;1.86	4.66	4.66	0.58398	.	0.000000	0.44483	D	0.000458	T	0.46756	0.1409	M	0.62723	1.935	0.49213	D	0.999764	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.37979	-0.9682	10	0.46703	T	0.11	-22.6984	13.4083	0.60926	0.0:1.0:0.0:0.0	.	17;17;17	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	T	17	ENSP00000203556:R17T;ENSP00000397075:R17T	ENSP00000203556:R17T	R	-	2	0	GMIP	19614398	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.146000	0.64845	2.303000	0.77524	0.555000	0.69702	AGG		0.592	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		89	64	0	0	0	0	89	64				
ZNF257	113835	broad.mit.edu	37	19	22271543	22271543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:22271543C>T	ENST00000594947.1	+	4	1135	c.991C>T	c.(991-993)Ctt>Ttt	p.L331F		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCCTCAGCCCTTACTCGACA	0.423																																						uc010ecx.2		NA																	0					0						c.(991-993)CTT>TTT		zinc finger protein 257							51.0	55.0	54.0					19																	22271543		2174	4282	6456	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271543C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.991C>T	19.37:g.22271543C>T	ENSP00000470209:p.Leu331Phe					ZNF257_uc010ecy.2_Missense_Mutation_p.L299F	p.L331F	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1160	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	331			C2H2-type 6.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.991C>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738033	0.30774	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40448	0.1117	L	0.58428	1.81	0.09310	N	1	D	0.57571	0.98	P	0.52109	0.69	T	0.20438	-1.0275	8	0.56958	D	0.05	.	5.1902	0.15205	0.0:0.7751:0.0:0.2248	.	331	Q9Y2Q1	ZN257_HUMAN	F	331;303	.	ENSP00000380312:L303F	L	+	1	0	ZNF257	22063383	0.008000	0.16893	0.019000	0.16419	0.011000	0.07611	0.207000	0.17395	0.518000	0.28383	0.313000	0.20887	CTT		0.423	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			23	41	0	0	0	0	23	41				
LGALS14	56891	broad.mit.edu	37	19	40197266	40197266	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:40197266T>C	ENST00000392052.3	+	2	268	c.45T>C	c.(43-45)ccT>ccC	p.P15P	LGALS14_ENST00000360675.3_Silent_p.P44P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	15	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TTTCCTTGCCTGTTGGTTCGT	0.498																																						uc002omg.2		NA																	0				ovary(1)|skin(1)	2						c.(43-45)CCT>CCC		lectin, galactoside-binding, soluble, 14 isoform							278.0	213.0	235.0					19																	40197266		2203	4300	6503	SO:0001819	synonymous_variant	56891					nucleus	sugar binding	g.chr19:40197266T>C	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.45T>C	19.37:g.40197266T>C						LGALS14_uc002omf.2_Silent_p.P44P	p.P15P	NM_020129	NP_064514	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		2	268	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	15			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Silent	SNP	ENST00000392052.3	37	c.45T>C	CCDS46073.1																																																																																				0.498	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		66	131	0	0	0	0	66	131				
MAP3K10	4294	broad.mit.edu	37	19	40710471	40710471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:40710471G>A	ENST00000253055.3	+	3	1231	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	MAP3K10_ENST00000593906.1_3'UTR|AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCGTATGGCGTGGCTATGAA	0.682																																						uc002ona.2		NA																	0				ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(943-945)GTG>ATG		mitogen-activated protein kinase kinase kinase							107.0	72.0	84.0					19																	40710471		2203	4300	6503	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40710471G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.943G>A	19.37:g.40710471G>A	ENSP00000253055:p.Val315Met					MAP3K10_uc002onb.2_Translation_Start_Site	p.V315M	NM_002446	NP_002437	Q02779	M3K10_HUMAN			3	1231	+			315			Protein kinase.		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.943G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135101	0.94517	.	.	ENSG00000130758	ENST00000253055	D	0.84442	-1.85	5.13	5.13	0.70059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.142016	0.46442	D	0.000296	D	0.91314	0.7261	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92122	0.5705	10	0.87932	D	0	.	16.4246	0.83810	0.0:0.0:1.0:0.0	.	315	Q02779	M3K10_HUMAN	M	315	ENSP00000253055:V315M	ENSP00000253055:V315M	V	+	1	0	MAP3K10	45402311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.542000	0.85734	0.650000	0.86243	GTG		0.682	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		7	41	0	0	0	0	7	41				
KCNN4	3783	broad.mit.edu	37	19	44271786	44271786	+	Missense_Mutation	SNP	G	G	A	rs201257292		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:44271786G>A	ENST00000262888.3	-	8	1588	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	398					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	CCCCGCCAGCGTGTCAATCTG	0.602																																						uc002oxl.2		NA																	0				ovary(2)	2						c.(1192-1194)ACG>ATG		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						84.0	82.0	82.0					19																	44271786		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44271786G>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.1193C>T	19.37:g.44271786G>A	ENSP00000262888:p.Thr398Met					KCNN4_uc010eiz.2_Missense_Mutation_p.T322M	p.T398M	NM_002250	NP_002241	O15554	KCNN4_HUMAN			8	1589	-		Prostate(69;0.0352)	398					Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.1193C>T	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018677	0.19355	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	D	0.99859	-7.23	3.87	1.64	0.23874	.	0.718522	0.13063	N	0.416743	D	0.98188	0.9401	L	0.27053	0.805	0.09310	N	1	P;P	0.45283	0.668;0.855	B;B	0.26969	0.075;0.068	D	0.99981	1.2607	10	0.44086	T	0.13	-0.4075	2.3759	0.04342	0.11:0.2009:0.4994:0.1897	.	292;398	D1MQ10;O15554	.;KCNN4_HUMAN	M	398;266	ENSP00000262888:T398M	ENSP00000262888:T398M	T	-	2	0	KCNN4	48963626	0.000000	0.05858	0.001000	0.08648	0.518000	0.34316	-0.158000	0.10070	0.565000	0.29255	0.650000	0.86243	ACG		0.602	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		33	31	0	0	0	0	33	31				
TOMM40	10452	broad.mit.edu	37	19	45406351	45406351	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:45406351G>A	ENST00000426677.2	+	9	1191	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	TOMM40_ENST00000252487.5_Silent_p.L337L|TOMM40_ENST00000592434.1_3'UTR|APOE_ENST00000252486.4_5'Flank|TOMM40_ENST00000405636.2_Silent_p.L337L	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	337					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCCTGCCCCTGACACTGGCCC	0.627																																						uc002ozx.3		NA																	0					0						c.(1009-1011)CTG>CTA		translocase of outer mitochondrial membrane 40							66.0	62.0	64.0					19																	45406351		2203	4300	6503	SO:0001819	synonymous_variant	10452				protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45406351G>A	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.1011G>A	19.37:g.45406351G>A						TOMM40_uc002ozy.3_Silent_p.L337L|TOMM40_uc002paa.3_Silent_p.L337L|TOMM40_uc002ozz.2_3'UTR|APOE_uc002pab.2_5'Flank	p.L337L	NM_006114	NP_006105	O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	10	1112	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		337					Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	ENST00000426677.2	37	c.1011G>A	CCDS12646.1																																																																																				0.627	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			15	52	0	0	0	0	15	52				
NLRP12	91662	broad.mit.edu	37	19	54313633	54313633	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54313633G>T	ENST00000324134.6	-	3	1448	c.1280C>A	c.(1279-1281)aCg>aAg	p.T427K	NLRP12_ENST00000391775.3_Missense_Mutation_p.T427K|NLRP12_ENST00000345770.5_Missense_Mutation_p.T427K|NLRP12_ENST00000351894.4_Missense_Mutation_p.T427K|NLRP12_ENST00000391773.1_Missense_Mutation_p.T427K|NLRP12_ENST00000535162.1_Missense_Mutation_p.T427K|NLRP12_ENST00000391772.1_Missense_Mutation_p.T427K|NLRP12_ENST00000354278.3_Missense_Mutation_p.T427K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	427	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCCTGGACGTCTGTCTCAA	0.642																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1279-1281)ACG>AAG		NLR family, pyrin domain containing 12 isoform							92.0	91.0	92.0					19																	54313633		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313633G>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1280C>A	19.37:g.54313633G>T	ENSP00000319377:p.Thr427Lys					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.T427K|NLRP12_uc002qcj.3_Missense_Mutation_p.T427K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.T427K	p.T427K	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1500	-	Ovarian(34;0.19)		427			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1280C>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253579	0.39797	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.77	1.33	0.21861	NACHT nucleoside triphosphatase (1);	0.322809	0.22246	N	0.062616	T	0.77691	0.4168	M	0.77616	2.38	0.09310	N	1	P;P;P;P	0.50443	0.935;0.835;0.835;0.752	B;B;B;B	0.38842	0.264;0.264;0.264;0.283	T	0.70831	-0.4765	10	0.66056	D	0.02	.	5.5314	0.16987	0.1844:0.1613:0.6542:0.0	.	427;427;427;427	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	427	ENSP00000319377:T427K;ENSP00000438030:T427K;ENSP00000340473:T427K;ENSP00000346231:T427K;ENSP00000375655:T427K;ENSP00000375653:T427K;ENSP00000375652:T427K	ENSP00000319377:T427K	T	-	2	0	NLRP12	59005445	0.000000	0.05858	0.002000	0.10522	0.515000	0.34225	0.072000	0.14617	0.174000	0.19809	-0.344000	0.07964	ACG		0.642	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		59	96	1	0	3.53e-34	9.02e-34	59	96				
LILRA6	79168	broad.mit.edu	37	19	54744856	54744856	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54744856C>G	ENST00000396365.2	-	5	845	c.806G>C	c.(805-807)gGc>gCc	p.G269A	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.G269A|LILRA6_ENST00000440558.2_Missense_Mutation_p.G269A|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.G269A	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	269	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCTGCTGGCCAGGGCGCTG	0.642																																						uc002qeu.1		NA																	0				skin(2)	2						c.(805-807)GGC>GCC		leukocyte immunoglobulin-like receptor,							49.0	58.0	55.0					19																	54744856		2200	4296	6496	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54744856C>G	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.806G>C	19.37:g.54744856C>G	ENSP00000379651:p.Gly269Ala					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.G269A|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.G269A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G269A|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G269A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.G269A|LILRA6_uc010yeq.1_Missense_Mutation_p.G269A|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G130A	p.G269A	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	930	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		269			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000396365.2	37	c.806G>C	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245326	0.22796	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.00705	5.81;5.81;5.81;5.81	2.1	-4.19	0.03835	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.238030	0.02121	N	0.055620	T	0.01387	0.0045	L	0.48986	1.54	0.09310	N	1	B;B;D;P	0.53151	0.402;0.374;0.958;0.798	B;B;P;B	0.54346	0.329;0.241;0.749;0.326	T	0.46665	-0.9175	10	0.24483	T	0.36	.	0.475	0.00538	0.2267:0.3433:0.2243:0.2057	.	269;269;269;269	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	A	269	ENSP00000390120:G269A;ENSP00000411227:G269A;ENSP00000379651:G269A;ENSP00000245621:G269A	ENSP00000245621:G269A	G	-	2	0	LILRA6	59436668	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.152000	0.03172	-0.606000	0.05746	0.184000	0.17185	GGC		0.642	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		21	68	0	0	0	0	21	68				
LILRB5	10990	broad.mit.edu	37	19	54755925	54755925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:54755925C>G	ENST00000316219.5	-	12	1725	c.1618G>C	c.(1618-1620)Gat>Cat	p.D540H	LILRB5_ENST00000345866.6_Missense_Mutation_p.D441H|LILRB5_ENST00000449561.2_Missense_Mutation_p.D541H|LILRB5_ENST00000450632.1_Missense_Mutation_p.D532H|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	540					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCCGAGCATCCATCTCCACC	0.627																																						uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1618-1620)GAT>CAT		leukocyte immunoglobulin-like receptor,							113.0	112.0	112.0					19																	54755925		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54755925C>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1618G>C	19.37:g.54755925C>G	ENSP00000320390:p.Asp540His					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.D532H|LILRB5_uc002qey.2_Missense_Mutation_p.D541H|LILRB5_uc002qez.2_Missense_Mutation_p.D441H|LILRB5_uc002qfa.1_3'UTR	p.D540H	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	12	1729	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		540			Cytoplasmic (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1618G>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280070	0.23392	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00575	6.65;6.76;6.61;6.46	1.7	-0.696	0.11287	.	.	.	.	.	T	0.01421	0.0046	L	0.60455	1.87	0.09310	N	1	D;P;B;B	0.89917	1.0;0.48;0.114;0.228	D;B;B;B	0.73380	0.98;0.144;0.093;0.081	T	0.50276	-0.8847	9	0.44086	T	0.13	.	3.934	0.09298	0.2754:0.4547:0.2699:0.0	.	532;441;541;540	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	H	540;532;541;441	ENSP00000320390:D540H;ENSP00000414225:D532H;ENSP00000406478:D541H;ENSP00000263430:D441H	ENSP00000320390:D540H	D	-	1	0	LILRB5	59447737	0.921000	0.31238	0.008000	0.14137	0.007000	0.05969	0.495000	0.22483	-0.092000	0.12417	-0.379000	0.06801	GAT		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	160	0	0	0	0	4	160				
ZNF524	147807	broad.mit.edu	37	19	56114033	56114033	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:56114033G>A	ENST00000591046.1	+	1	789	c.555G>A	c.(553-555)ctG>ctA	p.L185L	ZNF865_ENST00000568956.1_5'Flank|ZNF524_ENST00000301073.3_Silent_p.L185L			Q96C55	ZN524_HUMAN	zinc finger protein 524	185					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)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGGCGAGCTGGCGCACCACC	0.736																																						uc002qlk.1		NA																	0					0						c.(553-555)CTG>CTA		zinc finger protein 524							7.0	9.0	9.0					19																	56114033		2127	4147	6274	SO:0001819	synonymous_variant	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56114033G>A	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.555G>A	19.37:g.56114033G>A						FIZ1_uc002qlj.3_5'Flank	p.L185L	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	638	+			185			C2H2-type 3.		Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	c.555G>A	CCDS12929.1																																																																																				0.736	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		10	13	0	0	0	0	10	13				
ZNF547	284306	broad.mit.edu	37	19	57888603	57888603	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr19:57888603C>A	ENST00000282282.3	+	4	409	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGAATACCCAGCCCTGTGA	0.547																																						uc002qol.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(259-261)CAG>AAG		zinc finger protein 547							120.0	94.0	103.0					19																	57888603		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57888603C>A	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.259C>A	19.37:g.57888603C>A	ENSP00000282282:p.Gln87Lys					ZNF547_uc002qpm.3_Missense_Mutation_p.Q13K|ZNF547_uc010ygx.1_Missense_Mutation_p.Q87K	p.Q87K	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	452	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	87			C2H2-type 1.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.259C>A	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165407	0.21538	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.04917	3.53	2.09	-0.189	0.13260	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.05960	0.0155	L	0.52573	1.65	0.09310	N	1	P;B;P	0.51791	0.867;0.089;0.948	B;B;B	0.40534	0.281;0.022;0.332	T	0.32929	-0.9888	9	0.52906	T	0.07	.	4.6761	0.12712	0.0:0.6228:0.2283:0.1489	.	87;87;87	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	K	87	ENSP00000282282:Q87K	ENSP00000282282:Q87K	Q	+	1	0	ZNF547	62580415	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.686000	0.05161	0.018000	0.15052	0.491000	0.48974	CAG		0.547	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		19	31	1	0	9.77e-05	0.000202294	19	31				
GREB1	9687	broad.mit.edu	37	2	11696796	11696796	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:11696796A>G	ENST00000381486.2	+	2	356	c.56A>G	c.(55-57)cAc>cGc	p.H19R	GREB1_ENST00000263834.5_Missense_Mutation_p.H19R|GREB1_ENST00000381483.2_Missense_Mutation_p.H19R|GREB1_ENST00000234142.5_Missense_Mutation_p.H19R|GREB1_ENST00000389825.3_Intron	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	19						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAGGTCTTGCACAATTCCATC	0.512																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(55-57)CAC>CGC		growth regulation by estrogen in breast cancer 1							116.0	104.0	108.0					2																	11696796		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11696796A>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.56A>G	2.37:g.11696796A>G	ENSP00000370896:p.His19Arg					GREB1_uc002rbl.2_Missense_Mutation_p.H19R|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.H19R	p.H19R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	2	356	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		19					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.56A>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295877	0.81025	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.38077	2.12;1.16;1.22;2.12	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.996	T	0.64407	-0.6415	10	0.87932	D	0	-12.4188	14.4596	0.67440	1.0:0.0:0.0:0.0	.	19;19;19	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	R	19	ENSP00000370896:H19R;ENSP00000263834:H19R;ENSP00000370892:H19R;ENSP00000234142:H19R	ENSP00000234142:H19R	H	+	2	0	GREB1	11614247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.014000	0.76380	1.887000	0.54652	0.533000	0.62120	CAC		0.512	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		31	69	0	0	0	0	31	69				
GREB1	9687	broad.mit.edu	37	2	11696840	11696840	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:11696840A>T	ENST00000381486.2	+	2	400	c.100A>T	c.(100-102)Agg>Tgg	p.R34W	GREB1_ENST00000263834.5_Missense_Mutation_p.R34W|GREB1_ENST00000381483.2_Missense_Mutation_p.R34W|GREB1_ENST00000234142.5_Missense_Mutation_p.R34W|GREB1_ENST00000389825.3_Intron	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	34						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTGGTGCCCAGGCCCATCTT	0.517																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(100-102)AGG>TGG		growth regulation by estrogen in breast cancer 1							86.0	77.0	80.0					2																	11696840		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11696840A>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.100A>T	2.37:g.11696840A>T	ENSP00000370896:p.Arg34Trp					GREB1_uc002rbl.2_Missense_Mutation_p.R34W|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.R34W	p.R34W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	2	400	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		34					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.100A>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202253	0.79127	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.23552	2.93;1.9;1.92;2.93	4.71	0.709	0.18150	.	0.065015	0.64402	D	0.000014	T	0.45617	0.1351	M	0.68593	2.085	0.50467	D	0.99987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.983;0.999	T	0.46830	-0.9163	10	0.87932	D	0	-1.7893	12.5355	0.56140	0.5202:0.4798:0.0:0.0	.	34;34;34	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	W	34	ENSP00000370896:R34W;ENSP00000263834:R34W;ENSP00000370892:R34W;ENSP00000234142:R34W	ENSP00000234142:R34W	R	+	1	2	GREB1	11614291	0.980000	0.34600	1.000000	0.80357	0.999000	0.98932	1.718000	0.38001	0.277000	0.22141	0.533000	0.62120	AGG		0.517	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		13	57	0	0	0	0	13	57				
APOB	338	broad.mit.edu	37	2	21230159	21230159	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:21230159C>A	ENST00000233242.1	-	26	9708	c.9581G>T	c.(9580-9582)tGt>tTt	p.C3194F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3194	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAAACTCACAAAGCACAGC	0.328																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9580-9582)TGT>TTT		apolipoprotein B precursor	Atorvastatin(DB01076)						60.0	59.0	60.0					2																	21230159		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230159C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9581G>T	2.37:g.21230159C>A	ENSP00000233242:p.Cys3194Phe						p.C3194F	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9709	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3194			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9581G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	c	0.032	-1.329431	0.01298	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.35236	1.32	5.3	-0.0729	0.13737	.	0.381500	0.22522	N	0.058956	T	0.15262	0.0368	N	0.11427	0.14	0.09310	N	0.999993	B	0.06786	0.001	B	0.09377	0.004	T	0.12682	-1.0538	10	0.33141	T	0.24	.	4.8115	0.13345	0.2342:0.1324:0.0:0.6335	.	3194	P04114	APOB_HUMAN	F	3194	ENSP00000233242:C3194F	ENSP00000233242:C3194F	C	-	2	0	APOB	21083664	0.232000	0.23762	0.001000	0.08648	0.008000	0.06430	1.017000	0.29989	-0.265000	0.09352	-1.477000	0.00996	TGT		0.328	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			20	41	1	0	4.97e-08	1.13e-07	20	41				
ADCY3	109	broad.mit.edu	37	2	25048966	25048966	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:25048966A>T	ENST00000260600.5	-	15	3376	c.2525T>A	c.(2524-2526)aTg>aAg	p.M842K	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'Flank|ADCY3_ENST00000405392.1_Missense_Mutation_p.M429K	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	842					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCACCGTCATAGAGTACTT	0.612																																						uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(2524-2526)ATG>AAG		adenylate cyclase 3							121.0	92.0	102.0					2																	25048966		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25048966A>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2525T>A	2.37:g.25048966A>T	ENSP00000260600:p.Met842Lys					ADCY3_uc002rfr.3_Missense_Mutation_p.M429K|ADCY3_uc010ykm.1_Missense_Mutation_p.M843K	p.M842K	NM_004036	NP_004027	O60266	ADCY3_HUMAN			15	2724	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		842			Helical; (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2525T>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815823	0.50527	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323	T;T;T	0.70045	-0.45;-0.45;-0.45	5.4	4.26	0.50523	.	0.116354	0.85682	D	0.000000	T	0.48077	0.1480	L	0.34521	1.04	0.46521	D	0.999085	B;P;B	0.37688	0.329;0.605;0.005	B;B;B	0.28011	0.085;0.085;0.044	T	0.38045	-0.9679	10	0.24483	T	0.36	.	10.0583	0.42259	0.9201:0.0:0.0799:0.0	.	843;842;429	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	K	842;429;817;182	ENSP00000260600:M842K;ENSP00000384484:M429K;ENSP00000402008:M182K	ENSP00000260600:M842K	M	-	2	0	ADCY3	24902470	1.000000	0.71417	0.979000	0.43373	0.670000	0.39368	6.894000	0.75655	0.922000	0.37019	0.456000	0.33151	ATG		0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			7	29	0	0	0	0	7	29				
C2orf16	84226	broad.mit.edu	37	2	27800686	27800686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:27800686C>T	ENST00000408964.2	+	1	1298	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	416						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATGGAGGAATCTTTAGAGGTG	0.473																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(1246-1248)TCT>TTT		hypothetical protein LOC84226							73.0	70.0	71.0					2																	27800686		1875	4109	5984	SO:0001583	missense	84226							g.chr2:27800686C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1247C>T	2.37:g.27800686C>T	ENSP00000386190:p.Ser416Phe						p.S416F	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1298	+	Acute lymphoblastic leukemia(172;0.155)		416					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1247C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899690	0.33535	.	.	ENSG00000221843	ENST00000408964	T	0.06068	3.35	2.98	2.1	0.27182	.	.	.	.	.	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.51833	0.681	T	0.27262	-1.0079	9	0.87932	D	0	.	5.957	0.19279	0.0:0.8543:0.0:0.1457	.	416	Q68DN1	CB016_HUMAN	F	416	ENSP00000386190:S416F	ENSP00000386190:S416F	S	+	2	0	C2orf16	27654190	0.000000	0.05858	0.011000	0.14972	0.005000	0.04900	-0.001000	0.12947	0.827000	0.34685	0.563000	0.77884	TCT		0.473	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		8	70	0	0	0	0	8	70				
RTN4	57142	broad.mit.edu	37	2	55252626	55252626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:55252626T>A	ENST00000337526.6	-	3	2852	c.2609A>T	c.(2608-2610)gAg>gTg	p.E870V	RTN4_ENST00000394611.2_Missense_Mutation_p.E664V|RTN4_ENST00000404909.1_Missense_Mutation_p.E664V|RTN4_ENST00000354474.6_Missense_Mutation_p.E638V|RTN4_ENST00000405240.1_Missense_Mutation_p.E664V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.E664V|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	870					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGTAGGGAACTCATCTATAAT	0.328																																						uc002rye.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2608-2610)GAG>GTG		reticulon 4 isoform A							39.0	40.0	40.0					2																	55252626		2203	4297	6500	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252626T>A	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2609A>T	2.37:g.55252626T>A	ENSP00000337838:p.Glu870Val					RTN4_uc002ryd.2_Missense_Mutation_p.E664V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.E870V	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	2907	-			870			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2609A>T	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058234	0.76074	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.21543	2.02;2.02;2.0;2.02;2.02;2.03	5.45	5.45	0.79879	.	0.176504	0.38720	N	0.001595	T	0.34629	0.0904	M	0.63428	1.95	0.42947	D	0.994363	D	0.67145	0.996	P	0.54544	0.755	T	0.06789	-1.0807	10	0.27082	T	0.32	-8.1756	14.0823	0.64932	0.0:0.0:0.0:1.0	.	870	Q9NQC3	RTN4_HUMAN	V	664;664;870;664;664;638	ENSP00000384471:E664V;ENSP00000349944:E664V;ENSP00000337838:E870V;ENSP00000378109:E664V;ENSP00000385650:E664V;ENSP00000346465:E638V	ENSP00000337838:E870V	E	-	2	0	RTN4	55106130	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.169000	0.64984	2.046000	0.60703	0.533000	0.62120	GAG		0.328	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			8	51	0	0	0	0	8	51				
USP34	9736	broad.mit.edu	37	2	61415830	61415830	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:61415830T>A	ENST00000398571.2	-	80	10124	c.10048A>T	c.(10048-10050)Act>Tct	p.T3350S	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3350					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTAATGGGAGTTGCTCCTTCA	0.463																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(10048-10050)ACT>TCT		ubiquitin specific protease 34							70.0	66.0	68.0					2																	61415830		1953	4145	6098	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415830T>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10048A>T	2.37:g.61415830T>A	ENSP00000381577:p.Thr3350Ser					USP34_uc002sbd.2_Missense_Mutation_p.T152S	p.T3350S	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10070	-			3350					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.10048A>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.12|17.12	3.308367|3.308367	0.60305|0.60305	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.04119	.|3.7	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.07188|0.07188	0.0182|0.0182	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999994|0.999994	.|P	.|0.52842	.|0.956	.|P	.|0.62184	.|0.899	T|T	0.57963|0.57963	-0.7720|-0.7720	5|10	.|0.12766	.|T	.|0.61	.|.	15.7541|15.7541	0.78011|0.78011	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3350	.|Q70CQ2	.|UBP34_HUMAN	I|S	1026|3198;3115;3350;228	.|ENSP00000381577:T3350S	.|ENSP00000263989:T3198S	N|T	-|-	2|1	0|0	USP34|USP34	61269334|61269334	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.966000|0.966000	0.64601|0.64601	7.151000|7.151000	0.77411|0.77411	2.173000|2.173000	0.68751|0.68751	0.482000|0.482000	0.46254|0.46254	AAC|ACT		0.463	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			20	61	0	0	0	0	20	61				
ACTG2	72	broad.mit.edu	37	2	74128460	74128460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:74128460G>A	ENST00000409624.1	+	3	665	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	ACTG2_ENST00000409731.3_Missense_Mutation_p.A8T|ACTG2_ENST00000345517.3_Missense_Mutation_p.A8T|ACTG2_ENST00000409918.1_Missense_Mutation_p.A8T			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	8					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						GGAGACCACCGCGCTCGTGTG	0.607																																						uc002sjw.2		NA																	0					0						c.(22-24)GCG>ACG		actin, gamma 2 propeptide							65.0	56.0	60.0					2																	74128460		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74128460G>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.22G>A	2.37:g.74128460G>A	ENSP00000386857:p.Ala8Thr					ACTG2_uc010fex.1_Missense_Mutation_p.A8T|ACTG2_uc010fey.2_Missense_Mutation_p.A8T|ACTG2_uc010yrn.1_Missense_Mutation_p.A8T	p.A8T	NM_001615	NP_001606	P63267	ACTH_HUMAN			2	144	+			8					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.22G>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813098	0.50527	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D;D	0.97352	-4.35;-3.68;-3.68;-3.68;-3.68	3.93	3.93	0.45458	.	0.000000	0.64402	D	0.000002	D	0.97663	0.9234	L	0.53671	1.685	0.50313	D	0.999864	P;D;P	0.89917	0.956;1.0;0.869	P;D;D	0.87578	0.83;0.998;0.911	D	0.98385	1.0560	10	0.87932	D	0	.	15.2323	0.73401	0.0:0.0:1.0:0.0	.	8;8;8	E9PG30;B8ZZJ2;P63267	.;.;ACTH_HUMAN	T	8	ENSP00000386929:A8T;ENSP00000295137:A8T;ENSP00000387182:A8T;ENSP00000410020:A8T;ENSP00000386857:A8T	ENSP00000295137:A8T	A	+	1	0	ACTG2	73981968	1.000000	0.71417	0.240000	0.24138	0.258000	0.26162	9.560000	0.98139	2.199000	0.70637	0.305000	0.20034	GCG		0.607	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		10	42	0	0	0	0	10	42				
REG3G	130120	broad.mit.edu	37	2	79254286	79254286	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79254286G>T	ENST00000272324.5	+	4	506	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	REG3G_ENST00000393897.2_Missense_Mutation_p.D108Y|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	108	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCTCCATGACCCCACACA	0.552																																						uc002snw.2		NA																	0					0						c.(322-324)GAC>TAC		regenerating islet-derived 3 gamma precursor							139.0	122.0	128.0					2																	79254286		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254286G>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.322G>T	2.37:g.79254286G>T	ENSP00000272324:p.Asp108Tyr					REG3G_uc002snx.2_Missense_Mutation_p.D108Y|REG3G_uc010ffu.2_Intron	p.D108Y	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			4	407	+			108			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.322G>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333556	0.41297	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	T;T	0.03663	3.85;3.85	4.83	4.83	0.62350	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000021	T	0.26085	0.0636	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11203	-1.0597	10	0.87932	D	0	.	13.6255	0.62161	0.0:0.0:1.0:0.0	.	108	Q6UW15	REG3G_HUMAN	Y	108	ENSP00000377475:D108Y;ENSP00000272324:D108Y	ENSP00000272324:D108Y	D	+	1	0	REG3G	79107794	1.000000	0.71417	0.987000	0.45799	0.076000	0.17211	4.039000	0.57325	2.662000	0.90505	0.655000	0.94253	GAC		0.552	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		25	88	1	0	6.33e-13	1.53e-12	25	88				
REG1A	5967	broad.mit.edu	37	2	79349170	79349171	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:79349170_79349171GG>TT	ENST00000233735.1	+	4	343_344	c.240_241GG>TT	c.(238-243)gaGGgt>gaTTgt	p.80_81EG>DC		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	80	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.G81C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCAGGCCGAGGGTGCCTTTGT	0.515																																						uc002snz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(238-243)GAGGGT>GATTGT		regenerating islet-derived 1 alpha precursor																																				SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349170_79349171GG>TT		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	Exception_encountered	2.37:g.79349170_79349171delinsTT	ENSP00000233735:p.E80_G81delinsDC					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.80_81EG>DC	p.80_81EG>DC	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	343_344	+			80_81			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	DNP	ENST00000233735.1	37	c.240_241GG>TT	CCDS1964.1																																																																																				0.515	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		31	106	0	0	0	0	31	106				
VWA3B	200403	broad.mit.edu	37	2	98797619	98797619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:98797619G>T	ENST00000477737.1	+	9	1459	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	VWA3B_ENST00000451075.2_Missense_Mutation_p.D269Y|VWA3B_ENST00000435344.1_Missense_Mutation_p.D419Y	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	419										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCGCCACGCTGATGGGGTTGT	0.552																																						uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(1255-1257)GAT>TAT		von Willebrand factor A domain containing 3B							113.0	117.0	116.0					2																	98797619		2047	4196	6243	SO:0001583	missense	200403							g.chr2:98797619G>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1255G>T	2.37:g.98797619G>T	ENSP00000417955:p.Asp419Tyr					VWA3B_uc010yvh.1_Missense_Mutation_p.D269Y|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.D419Y|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D76Y	p.D419Y	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			9	1519	+			419					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1255G>T	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003038	0.54254	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.32515	1.45;2.8;2.22	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000010	T	0.56062	0.1960	M	0.66939	2.045	0.35528	D	0.80196	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.66122	-0.6002	10	0.87932	D	0	.	18.1044	0.89516	0.0:0.0:1.0:0.0	.	269;419;419	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	Y	419;419;269	ENSP00000401959:D419Y;ENSP00000417955:D419Y;ENSP00000389463:D269Y	ENSP00000388158:D419Y	D	+	1	0	VWA3B	98164051	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	6.622000	0.74233	2.645000	0.89757	0.585000	0.79938	GAT		0.552	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		31	103	1	0	5.83e-16	1.45e-15	31	103				
VWA3B	200403	broad.mit.edu	37	2	98916586	98916586	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:98916586T>C	ENST00000477737.1	+	25	3531	c.3327T>C	c.(3325-3327)ttT>ttC	p.F1109F	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1109										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAAAGGATTTGACTTCTATG	0.388																																						uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(3325-3327)TTT>TTC		von Willebrand factor A domain containing 3B							220.0	205.0	210.0					2																	98916586		1885	4124	6009	SO:0001819	synonymous_variant	200403							g.chr2:98916586T>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3327T>C	2.37:g.98916586T>C						VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.F766F|VWA3B_uc002syp.1_Silent_p.F501F|VWA3B_uc002syq.1_Silent_p.F385F|VWA3B_uc002syr.1_Silent_p.F426F|VWA3B_uc002sys.2_RNA	p.F1109F	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			25	3591	+			1109					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.3327T>C	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	3.890	-0.024203	0.07634	.	.	ENSG00000168658	ENST00000473149	.	.	.	4.8	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3746	0.21501	0.0:0.1904:0.0:0.8096	.	.	.	.	R	520	.	.	X	+	1	0	VWA3B	98283018	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	2.434000	0.44802	0.980000	0.38523	-0.256000	0.11100	TGA		0.388	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		46	131	0	0	0	0	46	131				
AFF3	3899	broad.mit.edu	37	2	100210206	100210206	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:100210206C>T	ENST00000409236.2	-	13	2029	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K	AFF3_ENST00000356421.2_Silent_p.K664K|AFF3_ENST00000409579.1_Silent_p.K664K|AFF3_ENST00000317233.4_Silent_p.K639K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	639					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCGCAGCTCCTTGCGGTGGC	0.662																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1915-1917)AAG>AAA		AF4/FMR2 family, member 3 isoform 1							42.0	47.0	46.0					2																	100210206		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210206C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1917G>A	2.37:g.100210206C>T						AFF3_uc002taf.2_Silent_p.K664K|AFF3_uc010fiq.1_Silent_p.K639K|AFF3_uc010yvr.1_Silent_p.K792K|AFF3_uc002tah.1_Silent_p.K664K	p.K639K	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2153	-			639					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.1917G>A	CCDS42723.1																																																																																				0.662	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		14	74	0	0	0	0	14	74				
IL1RL1	9173	broad.mit.edu	37	2	102968311	102968311	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:102968311A>C	ENST00000233954.1	+	11	1872	c.1601A>C	c.(1600-1602)cAa>cCa	p.Q534P		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	534	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTGAGGTACCAAATGCCTGTG	0.488																																						uc002tbu.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1600-1602)CAA>CCA		interleukin 1 receptor-like 1 isoform 1							55.0	64.0	61.0					2																	102968311		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102968311A>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1601A>C	2.37:g.102968311A>C	ENSP00000233954:p.Gln534Pro					IL18R1_uc002tbw.3_Intron	p.Q534P	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			11	1872	+			534			TIR.|Cytoplasmic (Potential).		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.1601A>C	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518569	0.64634	.	.	ENSG00000115602	ENST00000233954	T	0.02421	4.3	4.72	2.19	0.27852	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.428349	0.23239	N	0.050377	T	0.06371	0.0164	L	0.53249	1.67	0.80722	D	1	D	0.62365	0.991	P	0.58172	0.834	T	0.46911	-0.9157	10	0.30854	T	0.27	.	5.4476	0.16544	0.7643:0.0:0.0833:0.1524	.	534	Q01638	ILRL1_HUMAN	P	534	ENSP00000233954:Q534P	ENSP00000233954:Q534P	Q	+	2	0	IL1RL1	102334743	0.994000	0.37717	1.000000	0.80357	0.909000	0.53808	1.304000	0.33482	0.831000	0.34780	0.454000	0.30748	CAA		0.488	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		15	91	0	0	0	0	15	91				
DPP10	57628	broad.mit.edu	37	2	116535404	116535404	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:116535404T>A	ENST00000410059.1	+	15	1835	c.1355T>A	c.(1354-1356)cTg>cAg	p.L452Q	DPP10_ENST00000310323.8_Missense_Mutation_p.L445Q|DPP10_ENST00000393147.2_Missense_Mutation_p.L456Q|DPP10_ENST00000409163.1_Missense_Mutation_p.L402Q	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAAGGCAGCTGTACAGGTAA	0.403																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1354-1356)CTG>CAG		dipeptidyl peptidase 10 isoform long							150.0	134.0	140.0					2																	116535404		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116535404T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1355T>A	2.37:g.116535404T>A	ENSP00000386565:p.Leu452Gln					DPP10_uc002tlb.1_Missense_Mutation_p.L402Q|DPP10_uc002tlc.1_Missense_Mutation_p.L448Q|DPP10_uc002tle.2_Missense_Mutation_p.L456Q|DPP10_uc002tlf.1_Missense_Mutation_p.L445Q	p.L452Q	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			15	1812	+			452			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1355T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182113	0.78677	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.34	5.34	0.76211	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.73055	0.3538	H	0.94620	3.56	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.999	T	0.81165	-0.1057	10	0.87932	D	0	-31.3092	13.2587	0.60093	0.0:0.0:0.0:1.0	.	445;456;448;452	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Q	452;402;456;445;402	ENSP00000386565:L452Q;ENSP00000387038:L402Q;ENSP00000376855:L456Q;ENSP00000309066:L445Q	ENSP00000309066:L445Q	L	+	2	0	DPP10	116251874	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.638000	0.74309	2.021000	0.59480	0.472000	0.43445	CTG		0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		7	62	0	0	0	0	7	62				
EPB41L5	57669	broad.mit.edu	37	2	120844792	120844792	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:120844792G>A	ENST00000263713.5	+	11	1063	c.849G>A	c.(847-849)ttG>ttA	p.L283L	EPB41L5_ENST00000443124.1_Silent_p.L283L|EPB41L5_ENST00000331393.4_Silent_p.L283L|EPB41L5_ENST00000443902.2_Silent_p.L283L|EPB41L5_ENST00000452780.1_Silent_p.L283L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	283	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATTAACCTTGGTGGTTGTAG	0.289																																						uc002tmg.2		NA																	0				ovary(1)	1						c.(847-849)TTG>TTA		erythrocyte membrane protein band 4.1 like 5							74.0	83.0	80.0					2																	120844792		2200	4296	6496	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120844792G>A	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.849G>A	2.37:g.120844792G>A						EPB41L5_uc010flk.2_Silent_p.L283L|EPB41L5_uc010fll.2_Silent_p.L283L|EPB41L5_uc002tmh.3_Silent_p.L283L|EPB41L5_uc010flm.2_Silent_p.L87L	p.L283L	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			11	975	+			283			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	ENST00000263713.5	37	c.849G>A	CCDS2130.1																																																																																				0.289	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		13	43	0	0	0	0	13	43				
GLI2	2736	broad.mit.edu	37	2	121747427	121747427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:121747427C>G	ENST00000452319.1	+	14	3997	c.3937C>G	c.(3937-3939)Cca>Gca	p.P1313A	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1313A					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGCTGGAGTGCCACCACCTCA	0.647																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(3937-3939)CCA>GCA		GLI-Kruppel family member GLI2							22.0	22.0	22.0					2																	121747427		2201	4297	6498	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747427C>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3937C>G	2.37:g.121747427C>G	ENSP00000390436:p.Pro1313Ala					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.P985A|GLI2_uc002tmu.3_Missense_Mutation_p.P968A	p.P1313A	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	3967	+	Renal(3;0.0496)	Prostate(154;0.0623)	1313						Missense_Mutation	SNP	ENST00000452319.1	37	c.3937C>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	5.413	0.261404	0.10239	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.12569	2.67;2.67	4.72	1.56	0.23342	.	0.290828	0.29053	N	0.013299	T	0.08846	0.0219	L	0.41236	1.265	0.09310	N	0.999998	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.27434	-1.0074	9	.	.	.	.	3.8212	0.08836	0.1641:0.5655:0.1683:0.1021	.	1313;968	P10070;P10070-2	GLI2_HUMAN;.	A	1313	ENSP00000390436:P1313A;ENSP00000354586:P1313A	.	P	+	1	0	GLI2	121463897	0.000000	0.05858	0.011000	0.14972	0.845000	0.48019	-0.086000	0.11233	0.543000	0.28864	0.455000	0.32223	CCA		0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		3	32	0	0	0	0	3	32				
SAP130	79595	broad.mit.edu	37	2	128775403	128775403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:128775403G>C	ENST00000259235.3	-	3	406	c.277C>G	c.(277-279)Caa>Gaa	p.Q93E	SAP130_ENST00000357702.5_Missense_Mutation_p.Q93E|SAP130_ENST00000259234.6_Missense_Mutation_p.Q67E	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	93					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACAGGCTCTTGCTTCTCCTCC	0.547																																						uc002tpp.2		NA																	0				ovary(2)|skin(2)	4						c.(277-279)CAA>GAA		Sin3A-associated protein, 130kDa isoform b							126.0	109.0	115.0					2																	128775403		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775403G>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.277C>G	2.37:g.128775403G>C	ENSP00000259235:p.Gln93Glu					SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.Q93E|SAP130_uc002tpq.1_Missense_Mutation_p.Q67E	p.Q93E	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	409	-	Colorectal(110;0.1)		93					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.277C>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968986	0.92855	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	L	0.34521	1.04	0.80722	D	1	D;P;D	0.58268	0.982;0.954;0.982	D;D;D	0.70227	0.968;0.954;0.968	T	0.62534	-0.6834	9	0.33141	T	0.24	-14.4904	18.1974	0.89828	0.0:0.0:1.0:0.0	.	93;67;93	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	E	93;93;67;67;67	.	ENSP00000259234:Q67E	Q	-	1	0	SAP130	128491873	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.018000	0.93657	2.726000	0.93360	0.585000	0.79938	CAA		0.547	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		21	118	0	0	0	0	21	118				
MAP3K19	80122	broad.mit.edu	37	2	135745488	135745488	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:135745488T>A	ENST00000375845.3	-	7	984	c.954A>T	c.(952-954)aaA>aaT	p.K318N	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K335N|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K205N|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	318							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGATTTCAATTTTGTTACATT	0.403																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(952-954)AAA>AAT		Yeast Sps1/Ste20-related kinase 4 isoform 1							75.0	79.0	78.0					2																	135745488		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745488T>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.954A>T	2.37:g.135745488T>A	ENSP00000365005:p.Lys318Asn					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.K205N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.K46N|YSK4_uc002tui.3_Missense_Mutation_p.K335N	p.K318N	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	985	-			318					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.954A>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	1.362	-0.588402	0.03799	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.73047	-0.71;-0.71;1.64	4.67	-0.968	0.10313	.	0.537325	0.15575	N	0.255211	T	0.43853	0.1266	N	0.12746	0.255	0.09310	N	0.999998	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.19778	-1.0295	10	0.20046	T	0.44	.	5.7511	0.18148	0.104:0.077:0.5407:0.2783	.	205;335;318	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	N	318;205;335	ENSP00000365005:K318N;ENSP00000351140:K205N;ENSP00000376647:K335N	ENSP00000351140:K205N	K	-	3	2	YSK4	135461958	0.000000	0.05858	0.034000	0.17996	0.003000	0.03518	-0.334000	0.07883	0.002000	0.14630	-0.312000	0.09012	AAA		0.403	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		21	47	0	0	0	0	21	47				
GTDC1	79712	broad.mit.edu	37	2	144903281	144903281	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:144903281T>A	ENST00000392869.2	-	4	357	c.205A>T	c.(205-207)Aac>Tac	p.N69Y	GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000392867.3_Missense_Mutation_p.N69Y|GTDC1_ENST00000409298.1_Missense_Mutation_p.N69Y|GTDC1_ENST00000344850.4_Missense_Mutation_p.N69Y|GTDC1_ENST00000542155.1_Missense_Mutation_p.N69Y|GTDC1_ENST00000241391.5_Missense_Mutation_p.N69Y|GTDC1_ENST00000409214.1_Missense_Mutation_p.N69Y	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	69					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCGGTCAGGTTAAGCACTGAA	0.438																																						uc002tvp.2		NA																	0				ovary(1)	1						c.(205-207)AAC>TAC		glycosyltransferase-like domain containing 1							100.0	96.0	97.0					2																	144903281		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144903281T>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.205A>T	2.37:g.144903281T>A	ENSP00000376608:p.Asn69Tyr					GTDC1_uc002tvo.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvq.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvr.2_Missense_Mutation_p.N69Y|GTDC1_uc010fnn.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvs.2_Missense_Mutation_p.N37Y|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.N69Y	p.N69Y	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	5	484	-			69					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.205A>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550996	0.86127	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000437114;ENST00000417450	T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.73	5.73	0.89815	Glycosyltransferase family 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.991;0.995;1.0;0.991	T	0.76602	-0.2899	10	0.87932	D	0	1.7712	16.3265	0.82983	0.0:0.0:0.0:1.0	.	69;69;69;69;69	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62;Q4AE62-3	.;.;.;GTDC1_HUMAN;.	Y	69	ENSP00000376608:N69Y;ENSP00000386581:N69Y;ENSP00000376606:N69Y;ENSP00000386691:N69Y;ENSP00000438323:N69Y;ENSP00000241391:N69Y;ENSP00000339750:N69Y;ENSP00000403869:N69Y;ENSP00000400661:N69Y	ENSP00000241391:N69Y	N	-	1	0	GTDC1	144619751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.879000	0.87236	2.313000	0.78055	0.455000	0.32223	AAC		0.438	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		22	64	0	0	0	0	22	64				
TTN	7273	broad.mit.edu	37	2	179598434	179598434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:179598434G>A	ENST00000591111.1	-	51	14955	c.14731C>T	c.(14731-14733)Cct>Tct	p.P4911S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P3984S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P5228S			Q8WZ42	TITIN_HUMAN	titin	12303	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAACATCAGGGATTATCAAG	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11950-11952)CCT>TCT		titin isoform N2-A							178.0	169.0	172.0					2																	179598434		1880	4115	5995	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598434G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14731C>T	2.37:g.179598434G>A	ENSP00000465570:p.Pro4911Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P645S	p.P3984S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	12174	-			4911					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11950C>T		.	.	.	.	.	.	.	.	.	.	G	11.38	1.621349	0.28889	.	.	ENSG00000155657	ENST00000342992	T	0.64438	-0.1	5.79	3.97	0.46021	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29158	0.0725	N	0.01649	-0.78	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21348	-1.0248	9	0.87932	D	0	.	1.8889	0.03243	0.149:0.1884:0.4265:0.2361	.	4911	Q8WZ42	TITIN_HUMAN	S	3984	ENSP00000343764:P3984S	ENSP00000343764:P3984S	P	-	1	0	TTN	179306679	0.995000	0.38212	1.000000	0.80357	0.790000	0.44656	0.497000	0.22514	1.422000	0.47177	0.655000	0.94253	CCT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	145	0	0	0	0	39	145				
PGAP1	80055	broad.mit.edu	37	2	197711732	197711732	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:197711732C>G	ENST00000354764.4	-	22	2259	c.2145G>C	c.(2143-2145)ttG>ttC	p.L715F		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	715					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TTTACCTTTTCAAAGCTAGCC	0.333																																						uc002utw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2143-2145)TTG>TTC		GPI deacylase							62.0	60.0	61.0					2																	197711732		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197711732C>G		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2145G>C	2.37:g.197711732C>G	ENSP00000346809:p.Leu715Phe					PGAP1_uc002utx.2_Missense_Mutation_p.L541F|PGAP1_uc002uty.1_3'UTR|PGAP1_uc010fsi.2_5'Flank	p.L715F	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			22	2259	-			715			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.2145G>C	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524899	0.27299	.	.	ENSG00000197121	ENST00000354764	.	.	.	4.82	1.92	0.25849	.	0.252339	0.33515	N	0.004835	T	0.29256	0.0728	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07158	-1.0787	9	0.26408	T	0.33	-1.0198	3.8316	0.08876	0.1345:0.5835:0.1307:0.1513	.	715	Q75T13	PGAP1_HUMAN	F	715	.	ENSP00000346809:L715F	L	-	3	2	PGAP1	197419977	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.169000	0.16641	1.259000	0.44117	-0.140000	0.14226	TTG		0.333	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		10	22	0	0	0	0	10	22				
ANKRD44	91526	broad.mit.edu	37	2	197866545	197866545	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:197866545C>T	ENST00000328737.2	-	22	2368	c.2292G>A	c.(2290-2292)gaG>gaA	p.E764E	ANKRD44_ENST00000450567.1_Silent_p.E764E|ANKRD44_ENST00000337207.5_Silent_p.E764E|ANKRD44_ENST00000282272.8_Silent_p.E781E			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	789										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCAAAAGTACCTCTATACAGT	0.333																																						uc002uua.1		NA																	0				ovary(4)|skin(1)	5						c.(2290-2292)GAG>GAA		ankyrin repeat domain 44							87.0	87.0	87.0					2																	197866545		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197866545C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2292G>A	2.37:g.197866545C>T						ANKRD44_uc002utz.3_Silent_p.E496E	p.E764E	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		22	2369	-			789			ANK 23.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.2292G>A																																																																																					0.333	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		14	50	0	0	0	0	14	50				
MARS2	92935	broad.mit.edu	37	2	198570156	198570156	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:198570156G>T	ENST00000282276.6	+	1	70	c.27G>T	c.(25-27)ctG>ctT	p.L9L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	9					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TCCTCCGCCTGCTAGGACGCA	0.662																																						uc002uuq.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(25-27)CTG>CTT		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						41.0	37.0	38.0					2																	198570156		2202	4297	6499	SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570156G>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.27G>T	2.37:g.198570156G>T						uc002uup.2_Intron	p.L9L	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	70	+			9					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.27G>T	CCDS33358.1																																																																																				0.662	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		8	63	1	0	2.74e-10	6.49e-10	8	63				
PARD3B	117583	broad.mit.edu	37	2	205989155	205989155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:205989155G>A	ENST00000406610.2	+	9	1477	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	PARD3B_ENST00000351153.1_Missense_Mutation_p.D424N|PARD3B_ENST00000349953.3_Missense_Mutation_p.D424N|PARD3B_ENST00000358768.2_Missense_Mutation_p.D424N|PARD3B_ENST00000462231.1_Missense_Mutation_p.D424N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	424	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGCAATAAAAGATGGCCGCCT	0.373																																						uc002var.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1270-1272)GAT>AAT		par-3 partitioning defective 3 homolog B isoform							90.0	83.0	85.0					2																	205989155		1808	4081	5889	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205989155G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1270G>A	2.37:g.205989155G>A	ENSP00000385848:p.Asp424Asn					PARD3B_uc010fub.1_Missense_Mutation_p.D424N|PARD3B_uc002vao.1_Missense_Mutation_p.D424N|PARD3B_uc002vap.1_Missense_Mutation_p.D424N|PARD3B_uc002vaq.1_Missense_Mutation_p.D424N	p.D424N	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	9	1477	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	424			PDZ 2.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1270G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.466536	0.96257	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.94	5.94	0.96194	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.992;0.996;1.0;0.999;0.999	T	0.53222	-0.8469	10	0.72032	D	0.01	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	424;424;424;424;424	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	N	424	ENSP00000385848:D424N;ENSP00000351618:D424N;ENSP00000317261:D424N;ENSP00000340280:D424N	ENSP00000340280:D424N	D	+	1	0	PARD3B	205697400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.431000	0.97494	2.812000	0.96745	0.557000	0.71058	GAT		0.373	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		22	59	0	0	0	0	22	59				
ATIC	471	broad.mit.edu	37	2	216190845	216190845	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:216190845G>T	ENST00000236959.9	+	6	841	c.515G>T	c.(514-516)cGc>cTc	p.R172L	ATIC_ENST00000435675.1_Missense_Mutation_p.R171L|ATIC_ENST00000540518.1_Missense_Mutation_p.R113L	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	172					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GAGACTAGACGCCAGTTAGCC	0.502			T	ALK	ALCL																																	uc002vex.3		NA		Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29						c.(514-516)CGC>CTC		5-aminoimidazole-4-carboxamide ribonucleotide	Tetrahydrofolic acid(DB00116)						121.0	115.0	117.0					2																	216190845		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216190845G>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.515G>T	2.37:g.216190845G>T	ENSP00000236959:p.Arg172Leu					ATIC_uc010zjo.1_Missense_Mutation_p.R113L|ATIC_uc002vey.3_Missense_Mutation_p.R171L	p.R172L	NM_004044	NP_004035	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	6	689	+		Renal(323;0.229)	172					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.515G>T	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692222	0.68271	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.94	5.94	0.96194	Methylglyoxal synthase-like domain (2);	0.211163	0.47455	D	0.000233	T	0.43853	0.1266	L	0.53671	1.685	0.53005	D	0.999964	B;B	0.19817	0.013;0.039	B;B	0.14023	0.01;0.01	T	0.17806	-1.0357	10	0.41790	T	0.15	-14.212	19.9686	0.97276	0.0:0.0:1.0:0.0	.	171;172	E9PBU3;P31939	.;PUR9_HUMAN	L	172;113;171;113	ENSP00000236959:R172L;ENSP00000440523:R113L;ENSP00000415935:R171L;ENSP00000402393:R113L	ENSP00000236959:R172L	R	+	2	0	ATIC	215899090	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.893000	0.75649	2.820000	0.97059	0.650000	0.86243	CGC		0.502	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		12	41	1	0	9.31e-06	2e-05	12	41				
STK36	27148	broad.mit.edu	37	2	219543985	219543985	+	Splice_Site	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:219543985G>T	ENST00000295709.3	+	7	1057		c.e7+1		STK36_ENST00000392105.3_Splice_Site|STK36_ENST00000392106.2_Splice_Site|STK36_ENST00000440309.1_Splice_Site	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATGTCACCAGTGAGTCATCA	0.507																																						uc002viu.2		NA																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.e7+1		serine/threonine kinase 36							149.0	142.0	144.0					2																	219543985		2203	4300	6503	SO:0001630	splice_region_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219543985G>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.778+1G>T	2.37:g.219543985G>T						STK36_uc002viv.2_Splice_Site_p.I260_splice	p.I260_splice	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	7	1044	+		Renal(207;0.0915)							Splice_Site	SNP	ENST00000295709.3	37	c.778_splice	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784519	0.90282	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3331	0.94299	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK36	219252229	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.283000	0.95860	2.802000	0.96397	0.655000	0.94253	.		0.507	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2		Intron	16	84	1	0	2.23e-06	4.87e-06	16	84				
TGM6	343641	broad.mit.edu	37	20	2413288	2413288	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:2413288G>T	ENST00000202625.2	+	13	2181	c.2120G>T	c.(2119-2121)tGa>tTa	p.*707L	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	0					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACTGCCAAGTGATGGATCATG	0.572																																						uc002wfy.1		NA																	0				ovary(3)|skin(1)	4						c.(2119-2121)TGA>TTA		transglutaminase 6	L-Glutamine(DB00130)						115.0	102.0	107.0					20																	2413288		2203	4300	6503	SO:0001578	stop_lost	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2413288G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.2120G>T	20.37:g.2413288G>T	ENSP00000202625:p.*707Leuext*6					TGM6_uc010gal.1_3'UTR	p.*707L	NM_198994	NP_945345	O95932	TGM3L_HUMAN			13	2181	+			707					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Nonstop_Mutation	SNP	ENST00000202625.2	37	c.2120G>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	8.098	0.776115	0.16051	.	.	ENSG00000166948	ENST00000202625	.	.	.	4.97	3.02	0.34903	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4093	0.21682	0.0924:0.0:0.7274:0.1802	.	.	.	.	L	707	.	.	X	+	2	2	TGM6	2361288	0.597000	0.26874	0.983000	0.44433	0.092000	0.18411	0.244000	0.18124	0.793000	0.33875	0.655000	0.94253	TGA		0.572	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		18	62	1	0	1.45e-14	3.56e-14	18	62				
SIGLEC1	6614	broad.mit.edu	37	20	3678550	3678550	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:3678550G>A	ENST00000344754.4	-	8	2016	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R673C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	673	Ig-like C2-type 6.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ATCTCCACACGCAGCAAGTTG	0.612																																						uc002wja.2		NA																	0		p.1670_1673del(1)		pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2017-2019)CGT>TGT		sialoadhesin precursor							77.0	63.0	68.0					20																	3678550		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3678550G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2017C>T	20.37:g.3678550G>A	ENSP00000341141:p.Arg673Cys					SIGLEC1_uc002wiz.3_Missense_Mutation_p.R673C	p.R673C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			8	2017	-			673			Ig-like C2-type 6.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.2017C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032330	0.54790	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.74947	-0.89;-0.89	5.54	5.54	0.83059	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.400764	0.18569	N	0.137381	D	0.84982	0.5593	M	0.82193	2.58	0.40476	D	0.980399	D;D	0.76494	0.999;0.999	P;P	0.62740	0.906;0.847	D	0.86314	0.1688	10	0.72032	D	0.01	.	11.8438	0.52371	0.0:0.0:0.8258:0.1742	.	673;673	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	673	ENSP00000341141:R673C;ENSP00000202578:R673C	ENSP00000202578:R673C	R	-	1	0	SIGLEC1	3626550	0.427000	0.25514	0.954000	0.39281	0.409000	0.31022	1.047000	0.30367	2.884000	0.98904	0.655000	0.94253	CGT		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		10	50	0	0	0	0	10	50				
HAO1	54363	broad.mit.edu	37	20	7875861	7875861	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:7875861G>T	ENST00000378789.3	-	5	783	c.732C>A	c.(730-732)gcC>gcA	p.A244A		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	244	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGCCTCCCTGGCATCATCAC	0.512																																						uc002wmw.1		NA																	0				ovary(3)	3						c.(730-732)GCC>GCA		hydroxyacid oxidase 1							114.0	104.0	107.0					20																	7875861		2203	4300	6503	SO:0001819	synonymous_variant	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7875861G>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.732C>A	20.37:g.7875861G>T						HAO1_uc010gbu.2_Silent_p.A244A	p.A244A	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			5	756	-			244			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	ENST00000378789.3	37	c.732C>A	CCDS13100.1																																																																																				0.512	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			11	70	1	0	0.00010058	0.000207695	11	70				
REM1	28954	broad.mit.edu	37	20	30070276	30070276	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr20:30070276G>A	ENST00000201979.2	+	4	903	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	204					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCGCTGCCGAGAAGTCTCTGT	0.617																																						uc002wwa.2		NA																	0				lung(2)|pancreas(2)	4						c.(610-612)GAA>AAA		RAS-like GTP-binding protein REM							64.0	60.0	62.0					20																	30070276		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070276G>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.610G>A	20.37:g.30070276G>A	ENSP00000201979:p.Glu204Lys						p.E204K	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	894	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		204					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.610G>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465958	0.96257	.	.	ENSG00000088320	ENST00000201979	T	0.80653	-1.4	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87845	0.2654	10	0.48119	T	0.1	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	204	O75628	REM1_HUMAN	K	204	ENSP00000201979:E204K	ENSP00000201979:E204K	E	+	1	0	REM1	29533937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.652000	0.98499	2.577000	0.86979	0.563000	0.77884	GAA		0.617	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		11	46	0	0	0	0	11	46				
HSF2BP	11077	broad.mit.edu	37	21	45050217	45050217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr21:45050217G>A	ENST00000291560.2	-	6	891	c.560C>T	c.(559-561)gCt>gTt	p.A187V	HSF2BP_ENST00000542962.1_Missense_Mutation_p.A112V	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	187					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GACAATTCCAGCCAGAGCGAA	0.463																																						uc002zdi.2		NA																	0				skin(1)	1						c.(559-561)GCT>GTT		heat shock transcription factor 2 binding							103.0	80.0	88.0					21																	45050217		2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:45050217G>A	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.560C>T	21.37:g.45050217G>A	ENSP00000291560:p.Ala187Val					HSF2BP_uc011aey.1_Missense_Mutation_p.A112V	p.A187V	NM_007031	NP_008962	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	6	892	-			187					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.560C>T	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649171	0.29336	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	T;T;T	0.67698	-0.28;-0.15;-0.15	5.25	4.36	0.52297	Armadillo-type fold (1);	0.104769	0.64402	D	0.000005	T	0.73257	0.3564	L	0.50919	1.6	0.58432	D	0.99999	D	0.89917	1.0	D	0.74023	0.982	T	0.68769	-0.5321	10	0.10636	T	0.68	.	13.4662	0.61256	0.0:0.0:0.8428:0.1572	.	187	O75031	HSF2B_HUMAN	V	187;112;190	ENSP00000291560:A187V;ENSP00000443367:A112V;ENSP00000409585:A190V	ENSP00000291560:A187V	A	-	2	0	HSF2BP	43874645	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.946000	0.75953	1.322000	0.45245	0.655000	0.94253	GCT		0.463	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		3	30	0	0	0	0	3	30				
BCL2L13	23786	broad.mit.edu	37	22	18210216	18210216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:18210216G>C	ENST00000317582.5	+	7	1721	c.1374G>C	c.(1372-1374)aaG>aaC	p.K458N	BCL2L13_ENST00000543133.1_Missense_Mutation_p.K296N|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000538149.1_Missense_Mutation_p.K334N|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000337612.5_Missense_Mutation_p.K296N	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	458					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGAGGGCAAGTCTATACTGC	0.597																																						uc002zmw.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1372-1374)AAG>AAC		BCL2-like 13 (apoptosis facilitator)							80.0	84.0	83.0					22																	18210216		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18210216G>C	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.1374G>C	22.37:g.18210216G>C	ENSP00000318883:p.Lys458Asn					BCL2L13_uc002zmx.2_Missense_Mutation_p.K296N|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.K296N|BCL2L13_uc011agk.1_Missense_Mutation_p.K334N|BCL2L13_uc010gqz.2_Missense_Mutation_p.K178N|BCL2L13_uc002zmz.2_Missense_Mutation_p.K296N|BCL2L13_uc002zna.2_Missense_Mutation_p.K178N	p.K458N	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	7	1592	+		all_epithelial(15;0.123)	458			B; approximate.		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.1374G>C	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084937	0.36758	.	.	ENSG00000099968	ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612	T;T;T;T	0.51071	2.06;0.73;0.72;0.73	5.27	3.14	0.36123	.	0.347798	0.30602	N	0.009270	T	0.37705	0.1013	L	0.34521	1.04	0.33635	D	0.60654	P;P	0.50272	0.933;0.933	P;P	0.44860	0.462;0.462	T	0.55885	-0.8070	10	0.72032	D	0.01	-19.9526	8.746	0.34587	0.2672:0.0:0.7328:0.0	.	334;458	B7Z238;Q9BXK5	.;B2L13_HUMAN	N	458;296;334;296	ENSP00000318883:K458N;ENSP00000437667:K296N;ENSP00000441344:K334N;ENSP00000338932:K296N	ENSP00000318883:K458N	K	+	3	2	BCL2L13	16590216	1.000000	0.71417	0.532000	0.27989	0.305000	0.27757	2.079000	0.41577	1.445000	0.47624	0.655000	0.94253	AAG		0.597	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		11	188	0	0	0	0	11	188				
RNF215	200312	broad.mit.edu	37	22	30782669	30782669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:30782669G>A	ENST00000382363.3	-	2	439	c.365C>T	c.(364-366)gCc>gTc	p.A122V		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	122						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						GTGGAACTGGGCCGCCTGCTC	0.637																																						uc003ahp.2		NA																	0				central_nervous_system(1)	1						c.(364-366)GCC>GTC		ring finger protein 215							62.0	61.0	62.0					22																	30782669		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30782669G>A		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.365C>T	22.37:g.30782669G>A	ENSP00000371800:p.Ala122Val					RNF215_uc011akw.1_Missense_Mutation_p.A27V	p.A122V	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN			2	365	-			122			Extracellular (Potential).		A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.365C>T	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563665	0.65651	.	.	ENSG00000099999	ENST00000382363;ENST00000431544	T	0.19105	2.17	4.14	4.14	0.48551	.	0.000000	0.33290	N	0.005071	T	0.25568	0.0622	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.03095	-1.1073	10	0.30078	T	0.28	-15.8094	12.1633	0.54115	0.0:0.0:1.0:0.0	.	122	Q9Y6U7	RN215_HUMAN	V	122;27	ENSP00000371800:A122V	ENSP00000371800:A122V	A	-	2	0	RNF215	29112669	0.989000	0.36119	0.994000	0.49952	0.927000	0.56198	2.471000	0.45127	2.326000	0.78906	0.650000	0.86243	GCC		0.637	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		16	71	0	0	0	0	16	71				
ADSL	158	broad.mit.edu	37	22	40760320	40760320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:40760320C>T	ENST00000216194.7	+	11	1198	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	ADSL_ENST00000342312.6_Missense_Mutation_p.A381V|ADSL_ENST00000454266.2_Missense_Mutation_p.A395V	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	381					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.A381V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CCTTTCATGGCCACAGAGAAC	0.478																																					Colon(4;65 130 1097 1516)	uc003ayp.3		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(1141-1143)GCC>GTC		adenylosuccinate lyase isoform a							98.0	83.0	88.0					22																	40760320		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40760320C>T	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1142C>T	22.37:g.40760320C>T	ENSP00000216194:p.Ala381Val					ADSL_uc003ays.3_Missense_Mutation_p.A381V|ADSL_uc003ayq.3_Missense_Mutation_p.A395V|ADSL_uc003ayr.3_Missense_Mutation_p.A157V|ADSL_uc003ayt.3_Missense_Mutation_p.A366V	p.A381V	NM_000026	NP_000017	P30566	PUR8_HUMAN			11	1201	+			381					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.1142C>T	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413066	0.96072	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.95412	-3.7;-3.7;-3.51	5.47	5.47	0.80525	Adenylosuccinate lyase C-terminal metazoa/fungi (1);L-Aspartase-like (1);	0.049725	0.85682	D	0.000000	D	0.98134	0.9384	H	0.94423	3.535	0.80722	D	1	P;D;B;B	0.54772	0.494;0.968;0.319;0.319	B;P;B;B	0.57283	0.34;0.817;0.081;0.081	D	0.99000	1.0811	10	0.72032	D	0.01	-8.7276	19.3831	0.94545	0.0:1.0:0.0:0.0	.	395;381;381;381	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	V	381;395;201;381	ENSP00000216194:A381V;ENSP00000390107:A395V;ENSP00000341429:A381V	ENSP00000216194:A381V	A	+	2	0	ADSL	39090266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.128000	0.77217	2.569000	0.86673	0.650000	0.86243	GCC		0.478	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		6	38	0	0	0	0	6	38				
NUP50	10762	broad.mit.edu	37	22	45571834	45571834	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr22:45571834A>G	ENST00000347635.4	+	4	679	c.213A>G	c.(211-213)ggA>ggG	p.G71G	NUP50_ENST00000425733.2_Intron|NUP50_ENST00000407019.2_Silent_p.G43G|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Silent_p.G43G	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	71	Gly-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTGGAGGAGGACGCTTTTCTG	0.493																																						uc003bfr.2		NA																	0					0						c.(211-213)GGA>GGG		nucleoporin 50kDa isoform b							106.0	102.0	103.0					22																	45571834		2203	4300	6503	SO:0001819	synonymous_variant	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45571834A>G	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.213A>G	22.37:g.45571834A>G						NUP50_uc003bfs.2_Silent_p.G43G|NUP50_uc011aqn.1_Intron|NUP50_uc003bft.2_Silent_p.G43G|NUP50_uc011aqo.1_5'Flank	p.G71G	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	4	675	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	71			Gly-rich.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	ENST00000347635.4	37	c.213A>G	CCDS14062.1																																																																																				0.493	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			8	112	0	0	0	0	8	112				
NUP210	23225	broad.mit.edu	37	3	13438951	13438951	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:13438951G>T	ENST00000254508.5	-	3	424	c.342C>A	c.(340-342)gaC>gaA	p.D114E		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	114					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CATGGATGAGGTCCACAATGG	0.622																																						uc003bxv.1		NA																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(340-342)GAC>GAA		nucleoporin 210 precursor							92.0	81.0	85.0					3																	13438951		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13438951G>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.342C>A	3.37:g.13438951G>T	ENSP00000254508:p.Asp114Glu						p.D114E	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			3	425	-	all_neural(104;0.187)		114			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.342C>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540987	0.65085	.	.	ENSG00000132182	ENST00000254508	T	0.16324	2.35	4.3	2.46	0.29980	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	M	0.86502	2.82	0.58432	D	0.999991	D	0.89917	1.0	D	0.80764	0.994	T	0.17776	-1.0358	10	0.87932	D	0	-6.8784	5.8799	0.18850	0.4316:0.0:0.5684:0.0	.	114	Q8TEM1	PO210_HUMAN	E	114	ENSP00000254508:D114E	ENSP00000254508:D114E	D	-	3	2	NUP210	13413951	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	0.603000	0.24149	0.438000	0.26450	0.561000	0.74099	GAC		0.622	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		13	35	1	0	2.63e-14	6.43e-14	13	35				
PLCL2	23228	broad.mit.edu	37	3	17052474	17052474	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:17052474A>T	ENST00000418129.2	+	2	1723	c.1258A>T	c.(1258-1260)Aca>Tca	p.T420S	PLCL2_ENST00000432376.1_Missense_Mutation_p.T420S|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.T420S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	546					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTCTATACAACATCACCCAA	0.388																																						uc011awc.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(1612-1614)ACA>TCA		phospholipase C-like 2 isoform 1							48.0	47.0	47.0					3																	17052474		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052474A>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1258A>T	3.37:g.17052474A>T	ENSP00000409637:p.Thr420Ser					PLCL2_uc010het.1_3'UTR|PLCL2_uc011awd.1_Missense_Mutation_p.T420S	p.T538S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	1717	+			546			PI-PLC X-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1612A>T	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.009|0.009	-1.851398|-1.851398	0.00563|0.00563	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.62364	.|0.03;0.03;0.03	5.79|5.79	4.64|4.64	0.57946|0.57946	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.335433	.|0.35772	.|N	.|0.002984	T|T	0.44265|0.44265	0.1285|0.1285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.11235	.|0.004	.|B	.|0.17979	.|0.02	T|T	0.25152|0.25152	-1.0140|-1.0140	4|9	.|0.24483	.|T	.|0.36	.|.	6.2266|6.2266	0.20711|0.20711	0.707:0.1474:0.1456:0.0|0.707:0.1474:0.1456:0.0	.|.	.|546	.|Q9UPR0	.|PLCL2_HUMAN	H|S	163|420;547;420;420	.|ENSP00000409637:T420S;ENSP00000379979:T420S;ENSP00000412836:T420S	.|ENSP00000285094:T547S	Q|T	+|+	3|1	2|0	PLCL2|PLCL2	17027478|17027478	0.861000|0.861000	0.29849|0.29849	0.101000|0.101000	0.21167|0.21167	0.244000|0.244000	0.25665|0.25665	2.472000|2.472000	0.45136|0.45136	1.031000|1.031000	0.39867|0.39867	0.533000|0.533000	0.62120|0.62120	CAA|ACA		0.388	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			8	26	0	0	0	0	8	26				
NEK10	152110	broad.mit.edu	37	3	27203967	27203967	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:27203967T>A	ENST00000429845.2	-	32	3357	c.2995A>T	c.(2995-2997)Aat>Tat	p.N999Y	NEK10_ENST00000383771.4_Missense_Mutation_p.N311Y|NEK10_ENST00000357467.2_Missense_Mutation_p.N396Y|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000295720.6_Missense_Mutation_p.N311Y|NEK10_ENST00000383770.3_Intron			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	999					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTTTGAGATTTCGAAGAATC	0.463																																						uc010hfk.2		NA																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(931-933)AAT>TAT		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							109.0	104.0	106.0					3																	27203967		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27203967T>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2995A>T	3.37:g.27203967T>A	ENSP00000395849:p.Asn999Tyr					NEK10_uc003cds.1_Missense_Mutation_p.N396Y|NEK10_uc010hfj.2_Intron	p.N311Y			Q6ZWH5	NEK10_HUMAN			10	1160	-			999					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.931A>T		.	.	.	.	.	.	.	.	.	.	T	0.561	-0.845236	0.02671	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000357467	T;T;T	0.74315	2.81;2.87;-0.83	5.62	1.65	0.23941	.	.	.	.	.	T	0.64735	0.2625	.	.	.	0.19575	N	0.999968	B;B	0.24483	0.104;0.063	B;B	0.30646	0.118;0.034	T	0.57619	-0.7780	8	0.56958	D	0.05	.	6.1025	0.20055	0.0:0.0826:0.3128:0.6046	.	311;396	Q6ZWH5-5;Q8N774	.;.	Y	311;311;396	ENSP00000295720:N311Y;ENSP00000373281:N311Y;ENSP00000350059:N396Y	ENSP00000295720:N311Y	N	-	1	0	NEK10	27178971	0.906000	0.30813	0.144000	0.22314	0.920000	0.55202	1.395000	0.34520	0.397000	0.25310	0.533000	0.62120	AAT		0.463	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		28	54	0	0	0	0	28	54				
EOMES	8320	broad.mit.edu	37	3	27760106	27760106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:27760106C>T	ENST00000295743.4	-	5	1554	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.A156T|EOMES_ENST00000449599.1_Missense_Mutation_p.A451T			O95936	EOMES_HUMAN	eomesodermin	451					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AAGCCTTTTGCAAAGGGGTTA	0.403																																						uc003cdx.2		NA																	0				ovary(3)|breast(1)	4						c.(1351-1353)GCA>ACA		eomesodermin							140.0	133.0	135.0					3																	27760106		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27760106C>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1351G>A	3.37:g.27760106C>T	ENSP00000295743:p.Ala451Thr					EOMES_uc003cdy.3_Missense_Mutation_p.A451T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.A156T	p.A451T	NM_005442	NP_005433	O95936	EOMES_HUMAN			5	1351	-			451			T-box.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.1351G>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646121	0.96704	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.91894	-2.93;-2.93;-2.93	5.83	5.83	0.93111	p53-like transcription factor, DNA-binding (1);	0.051148	0.85682	D	0.000000	D	0.97567	0.9203	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98076	1.0401	10	0.87932	D	0	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	165;451;451	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	T	451;451;156;316	ENSP00000295743:A451T;ENSP00000388620:A451T;ENSP00000442097:A156T	ENSP00000295743:A451T	A	-	1	0	EOMES	27735110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	GCA		0.403	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		10	37	0	0	0	0	10	37				
TRANK1	9881	broad.mit.edu	37	3	36898414	36898414	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:36898414C>A	ENST00000429976.2	-	12	2914	c.2667G>T	c.(2665-2667)cgG>cgT	p.R889R	TRANK1_ENST00000301807.6_Silent_p.R339R|TRANK1_ENST00000428977.2_Silent_p.R339R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	889							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGTGTAGATCCGCCCTGATT	0.522																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1015-1017)CGG>CGT		lupus brain antigen 1							57.0	53.0	54.0					3																	36898414		1978	4159	6137	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36898414C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2667G>T	3.37:g.36898414C>A							p.R339R	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	1319	-			889					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.1017G>T	CCDS46789.2																																																																																				0.522	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		11	7	1	0	0.000673444	0.00135836	11	7				
SLC22A14	9389	broad.mit.edu	37	3	38347844	38347844	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:38347844C>G	ENST00000273173.4	+	1	418	c.327C>G	c.(325-327)caC>caG	p.H109Q	SLC22A14_ENST00000448498.1_Missense_Mutation_p.H109Q|RNU6-235P_ENST00000362644.1_RNA	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	109					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGGGCCCCCACCTGTCCAAAG	0.532																																						uc010hhc.1		NA																	0					0						c.(325-327)CAC>CAG		organic cation transporter like 4							108.0	100.0	103.0					3																	38347844		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38347844C>G	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.327C>G	3.37:g.38347844C>G	ENSP00000273173:p.His109Gln					SLC22A14_uc003cia.2_Missense_Mutation_p.H109Q|SLC22A14_uc003cib.2_Missense_Mutation_p.H109Q|SLC22A14_uc011ayo.1_RNA	p.H109Q	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	2	369	+			109			Extracellular (Potential).		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.327C>G	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248690	0.22880	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.34275	1.37;1.37	5.62	2.78	0.32641	.	0.058573	0.64402	U	0.000004	T	0.27063	0.0663	L	0.29908	0.895	0.23174	N	0.99818	B	0.16396	0.017	B	0.24394	0.053	T	0.22661	-1.0210	10	0.44086	T	0.13	.	11.519	0.50541	0.0:0.7923:0.0:0.2077	.	109	Q9Y267	S22AE_HUMAN	Q	109	ENSP00000396283:H109Q;ENSP00000273173:H109Q	ENSP00000273173:H109Q	H	+	3	2	SLC22A14	38322848	1.000000	0.71417	0.212000	0.23672	0.076000	0.17211	1.613000	0.36900	0.828000	0.34709	0.655000	0.94253	CAC		0.532	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		35	53	0	0	0	0	35	53				
MYRIP	25924	broad.mit.edu	37	3	40231705	40231705	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:40231705G>A	ENST00000302541.6	+	10	1758	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.L285L|MYRIP_ENST00000425621.1_Silent_p.L472L|MYRIP_ENST00000444716.1_Silent_p.L472L|MYRIP_ENST00000396217.3_Silent_p.L383L	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	472	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCCAGACTGTCCTGGTTGC	0.627																																						uc003cka.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1414-1416)CTG>CTA		myosin VIIA and Rab interacting protein							65.0	70.0	68.0					3																	40231705		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231705G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1416G>A	3.37:g.40231705G>A						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.L472L|MYRIP_uc010hhw.2_Silent_p.L383L|MYRIP_uc011ayz.1_Silent_p.L285L|uc003ckb.2_Intron	p.L472L	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1551	+			472			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1416G>A	CCDS2689.1																																																																																				0.627	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		37	41	0	0	0	0	37	41				
ABHD5	51099	broad.mit.edu	37	3	43743731	43743731	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:43743731A>C	ENST00000458276.2	+	3	281	c.158A>C	c.(157-159)gAa>gCa	p.E53A		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	53					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TACAAAAAAGAACCTGTTCGT	0.338																																						uc003cmx.2		NA																	0				ovary(1)	1						c.(157-159)GAA>GCA		abhydrolase domain containing 5							53.0	56.0	55.0					3																	43743731		2203	4300	6503	SO:0001583	missense	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43743731A>C	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.158A>C	3.37:g.43743731A>C	ENSP00000390849:p.Glu53Ala						p.E53A	NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	3	268	+		Renal(3;0.0134)	53					B2R9K0|Q9Y369	Missense_Mutation	SNP	ENST00000458276.2	37	c.158A>C	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	A	9.894	1.205111	0.22205	.	.	ENSG00000011198	ENST00000456453;ENST00000458276;ENST00000454293	T;T;T	0.80123	-1.34;-1.12;-0.71	5.96	3.61	0.41365	.	0.216928	0.47093	D	0.000248	T	0.76601	0.4010	M	0.63428	1.95	0.39610	D	0.969869	B	0.19445	0.036	B	0.20184	0.028	T	0.71613	-0.4540	10	0.51188	T	0.08	-15.2009	10.3415	0.43882	0.8321:0.0:0.1679:0.0	.	53	Q8WTS1	ABHD5_HUMAN	A	12;53;12	ENSP00000391582:E12A;ENSP00000390849:E53A;ENSP00000412014:E12A	ENSP00000412014:E12A	E	+	2	0	ABHD5	43718735	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	2.851000	0.48302	0.522000	0.28464	0.528000	0.53228	GAA		0.338	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		20	24	0	0	0	0	20	24				
ZNF502	91392	broad.mit.edu	37	3	44762721	44762721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:44762721G>T	ENST00000296091.4	+	4	668	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	ZNF502_ENST00000449836.1_Missense_Mutation_p.D138Y|ZNF502_ENST00000436624.2_Missense_Mutation_p.D138Y	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	138					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAAACCAATGATATTTCAGA	0.388																																						uc011baa.1		NA																	0					0						c.(412-414)GAT>TAT		zinc finger protein 502							73.0	74.0	74.0					3																	44762721		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762721G>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.412G>T	3.37:g.44762721G>T	ENSP00000296091:p.Asp138Tyr					ZNF502_uc003cns.2_Missense_Mutation_p.D138Y|ZNF502_uc011bab.1_Missense_Mutation_p.D138Y|ZNF502_uc003cnt.2_Missense_Mutation_p.D138Y	p.D138Y	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	667	+			138						Missense_Mutation	SNP	ENST00000296091.4	37	c.412G>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	G	8.842	0.942444	0.18281	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.49139	3.28;3.28;3.28;0.79	4.23	1.44	0.22558	.	.	.	.	.	T	0.22589	0.0545	N	0.08118	0	0.09310	N	1	B	0.21147	0.052	B	0.19148	0.024	T	0.25328	-1.0135	9	0.10636	T	0.68	-2.4746	7.6999	0.28617	0.3551:0.0:0.6449:0.0	.	138	Q8TBZ5	ZN502_HUMAN	Y	138	ENSP00000397390:D138Y;ENSP00000296091:D138Y;ENSP00000406469:D138Y;ENSP00000401717:D138Y	ENSP00000296091:D138Y	D	+	1	0	ZNF502	44737725	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.086000	0.14935	0.320000	0.23234	0.655000	0.94253	GAT		0.388	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		7	41	1	0	1.13e-05	2.41e-05	7	41				
SEMA3F	6405	broad.mit.edu	37	3	50225414	50225414	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:50225414A>T	ENST00000002829.3	+	19	2708	c.2224A>T	c.(2224-2226)Atc>Ttc	p.I742F	SEMA3F_ENST00000413852.1_Missense_Mutation_p.I643F|SEMA3F_ENST00000434342.1_Missense_Mutation_p.I711F	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	742					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AGTGGGCCTCATCCACCAGTA	0.687																																						uc003cyj.2		NA																	0				lung(1)|skin(1)	2						c.(2224-2226)ATC>TTC		semaphorin 3F precursor							8.0	9.0	9.0					3																	50225414		2175	4242	6417	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50225414A>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2224A>T	3.37:g.50225414A>T	ENSP00000002829:p.Ile742Phe					SEMA3F_uc003cyk.2_Missense_Mutation_p.I711F	p.I742F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	19	2422	+			742					C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.2224A>T	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238237	0.79800	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.55930	0.56;0.49;0.56	5.57	5.57	0.84162	.	0.049191	0.85682	D	0.000000	T	0.52484	0.1737	L	0.50333	1.59	0.50039	D	0.999848	P;P	0.52842	0.865;0.956	P;P	0.47376	0.517;0.545	T	0.57694	-0.7767	10	0.72032	D	0.01	.	10.8048	0.46512	0.8414:0.1586:0.0:0.0	.	711;742	C9JQ85;Q13275	.;SEM3F_HUMAN	F	643;742;711	ENSP00000388931:I643F;ENSP00000002829:I742F;ENSP00000409859:I711F	ENSP00000002829:I742F	I	+	1	0	SEMA3F	50200418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.472000	0.60189	2.111000	0.64477	0.379000	0.24179	ATC		0.687	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186		4	8	0	0	0	0	4	8				
PCBP4	57060	broad.mit.edu	37	3	51995025	51995025	+	Splice_Site	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:51995025C>A	ENST00000461554.1	-	4	437		c.e4+1		PCBP4_ENST00000484633.1_Splice_Site|PCBP4_ENST00000322099.7_Splice_Site|PCBP4_ENST00000471622.1_Splice_Site|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000395014.2_5'Flank|PCBP4_ENST00000395013.3_Splice_Site|PCBP4_ENST00000355852.2_Splice_Site|RP11-155D18.14_ENST00000489595.2_Splice_Site|PCBP4_ENST00000428823.2_Splice_Site	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4							cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TAGGCACCTACCTTCCCGATG	0.572																																						uc003dcd.1		NA																	0					0						c.e2+1		poly(rC) binding protein 4 isoform c							134.0	135.0	134.0					3																	51995025		2203	4300	6503	SO:0001630	splice_region_variant	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51995025C>A	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.105+1G>T	3.37:g.51995025C>A						PCBP4_uc003dcb.1_Splice_Site|PCBP4_uc003dcc.1_Splice_Site|PCBP4_uc003dce.1_Splice_Site_p.K35_splice|PCBP4_uc003dcf.1_Splice_Site_p.K35_splice|PCBP4_uc003dcg.1_Splice_Site|PCBP4_uc003dch.1_Splice_Site_p.K35_splice|PCBP4_uc003dci.1_Splice_Site|PCBP4_uc003dcj.1_Splice_Site_p.K35_splice|PCBP4_uc003dck.1_Splice_Site_p.K35_splice|PCBP4_uc003dcl.1_Splice_Site_p.K35_splice	p.K35_splice	NM_033010	NP_127503	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	501	-								Q96AH7	Splice_Site	SNP	ENST00000461554.1	37	c.105_splice	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253138	0.80135	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000428823;ENST00000471622;ENST00000294192;ENST00000468324;ENST00000466412;ENST00000497653;ENST00000489595;ENST00000490063;ENST00000483411;ENST00000461544	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0881	0.89464	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCBP4	51970065	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	6.011000	0.70760	2.431000	0.82371	0.561000	0.74099	.		0.572	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418	Intron	17	124	1	0	0.00498961	0.00983579	17	124				
BOC	91653	broad.mit.edu	37	3	112999437	112999437	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:112999437C>A	ENST00000495514.1	+	14	2939	c.2235C>A	c.(2233-2235)atC>atA	p.I745I	BOC_ENST00000273395.4_Silent_p.I746I|BOC_ENST00000355385.3_Silent_p.I745I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	745	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACACCCCAATCCATGGCTTTT	0.413																																						uc003dzx.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(2233-2235)ATC>ATA		brother of CDO precursor							165.0	157.0	160.0					3																	112999437		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112999437C>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2235C>A	3.37:g.112999437C>A						BOC_uc003dzy.2_Silent_p.I745I|BOC_uc003dzz.2_Silent_p.I746I|BOC_uc003eab.2_Silent_p.I446I|BOC_uc003eac.2_Silent_p.I60I	p.I745I	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		14	2856	+			745			Fibronectin type-III 3.|Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.2235C>A	CCDS2971.1																																																																																				0.413	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		10	41	1	0	0.000442599	0.000901105	10	41				
C3orf30	152405	broad.mit.edu	37	3	118870107	118870107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:118870107G>A	ENST00000295622.1	+	3	1619	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	527										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAAGCCAGAGGACCCCCTGAA	0.363																																						uc003ecb.1		NA																	0				ovary(2)	2						c.(1579-1581)GAC>AAC		hypothetical protein LOC152405							193.0	207.0	203.0					3																	118870107		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118870107G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1579G>A	3.37:g.118870107G>A	ENSP00000295622:p.Asp527Asn					C3orf30_uc011biw.1_Missense_Mutation_p.D526N	p.D527N	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	1619	+			527					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.1579G>A	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.07|17.07	3.294859|3.294859	0.60086|0.60086	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000492792	T|.	0.75821|.	-0.97|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.56097|.	D|.	0.000032|.	T|T	0.65133|0.65133	0.2662|0.2662	L|L	0.58101|0.58101	1.795|1.795	0.38620|0.38620	D|D	0.951128|0.951128	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.65619|0.65619	-0.6124|-0.6124	10|5	0.87932|.	D|.	0|.	-26.0715|-26.0715	13.6835|13.6835	0.62502|0.62502	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	526;527|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	N|E	527;526|212	ENSP00000295622:D527N|.	ENSP00000295622:D527N|.	D|G	+|+	1|2	0|0	C3orf30|C3orf30	120352797|120352797	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	4.828000|4.828000	0.62730|0.62730	2.608000|2.608000	0.88229|0.88229	0.591000|0.591000	0.81541|0.81541	GAC|GGA		0.363	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		84	156	0	0	0	0	84	156				
PLXNA1	5361	broad.mit.edu	37	3	126747090	126747090	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:126747090G>T	ENST00000393409.2	+	24	4576	c.4576G>T	c.(4576-4578)Gac>Tac	p.D1526Y	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1503Y	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1526					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCTGGACTGTGACACGGTCAC	0.657																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4507-4509)GAC>TAC		plexin A1							42.0	40.0	41.0					3																	126747090		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126747090G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4576G>T	3.37:g.126747090G>T	ENSP00000377061:p.Asp1526Tyr					PLXNA1_uc003ejh.2_Missense_Mutation_p.D171Y	p.D1503Y	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	24	4511	+			1526			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.4507G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	g	19.24	3.789889	0.70337	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.27557	1.66;1.66	3.62	3.62	0.41486	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000003	T	0.65217	0.2670	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77747	-0.2472	10	0.87932	D	0	.	15.8137	0.78583	0.0:0.0:1.0:0.0	.	140;1526	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	Y	1526;1503	ENSP00000377061:D1526Y;ENSP00000251772:D1503Y	ENSP00000251772:D1503Y	D	+	1	0	PLXNA1	128229780	1.000000	0.71417	0.990000	0.47175	0.647000	0.38526	9.595000	0.98260	2.024000	0.59613	0.306000	0.20318	GAC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		12	31	1	0	1.09e-07	2.44e-07	12	31				
A4GNT	51146	broad.mit.edu	37	3	137843691	137843691	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:137843691G>T	ENST00000236709.3	-	3	639	c.438C>A	c.(436-438)ctC>ctA	p.L146L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	146					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AGCTGATGTGGAGCCAGTTTC	0.587																																						uc003ers.2		NA																	0				central_nervous_system(1)	1						c.(436-438)CTC>CTA		alpha-1,4-N-acetylglucosaminyltransferase							71.0	67.0	68.0					3																	137843691		2203	4300	6503	SO:0001819	synonymous_variant	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843691G>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.438C>A	3.37:g.137843691G>T							p.L146L	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	640	-			146			Lumenal (Potential).		Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	c.438C>A	CCDS3097.1																																																																																				0.587	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		6	68	1	0	0.00198382	0.00394042	6	68				
GPR149	344758	broad.mit.edu	37	3	154138924	154138924	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr3:154138924T>A	ENST00000389740.2	-	3	1626	c.1527A>T	c.(1525-1527)gaA>gaT	p.E509D		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	509					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTCTGGCCCTTCAGAAAAGG	0.413																																						uc003faa.2		NA																	0				ovary(6)	6						c.(1525-1527)GAA>GAT		G protein-coupled receptor 149							145.0	133.0	136.0					3																	154138924		1841	4083	5924	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154138924T>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1527A>T	3.37:g.154138924T>A	ENSP00000374390:p.Glu509Asp						p.E509D	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	1627	-			509			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.1527A>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474286	0.26423	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.15	2.5	0.30297	.	0.316577	0.37219	N	0.002191	T	0.41903	0.1179	L	0.39397	1.21	0.37506	D	0.916958	B	0.15141	0.012	B	0.12156	0.007	T	0.38802	-0.9644	9	0.48119	T	0.1	-3.3227	3.8597	0.08990	0.1289:0.0794:0.1332:0.6585	.	509	Q86SP6	GP149_HUMAN	D	509	.	ENSP00000374390:E509D	E	-	3	2	GPR149	155621618	0.993000	0.37304	0.995000	0.50966	0.524000	0.34500	0.177000	0.16801	0.877000	0.35895	0.372000	0.22366	GAA		0.413	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		105	98	0	0	0	0	105	98				
KDR	3791	broad.mit.edu	37	4	55964304	55964304	+	Splice_Site	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:55964304C>A	ENST00000263923.4	-	17	2804	c.2509G>T	c.(2509-2511)Ggt>Tgt	p.G837C		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATGCACCTAGCTTCAGC	0.423			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2509-2511)GGT>TGT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						102.0	100.0	100.0					4																	55964304		2203	4300	6503	SO:0001630	splice_region_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964304C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2509+1G>T	4.37:g.55964304C>A		TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.G837C	p.G837C	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		17	2811	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		837			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2509G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988958	0.74589	.	.	ENSG00000128052	ENST00000263923	D	0.89875	-2.58	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94512	0.8233	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93472	0.6820	9	.	.	.	.	20.1707	0.98158	0.0:1.0:0.0:0.0	.	837	P35968	VGFR2_HUMAN	C	837	ENSP00000263923:G837C	.	G	-	1	0	KDR	55659061	1.000000	0.71417	0.997000	0.53966	0.435000	0.31806	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GGT		0.423	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		Missense_Mutation	7	66	1	0	5.49e-09	1.27e-08	7	66				
KDR	3791	broad.mit.edu	37	4	55970955	55970955	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:55970955G>T	ENST00000263923.4	-	13	2137	c.1842C>A	c.(1840-1842)gcC>gcA	p.A614A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	614	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAACATGGTGGCATTCAATT	0.463			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1840-1842)GCC>GCA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						139.0	127.0	131.0					4																	55970955		2203	4300	6503	SO:0001819	synonymous_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55970955G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1842C>A	4.37:g.55970955G>T		TSP Lung(20;0.16)				KDR_uc003hat.1_Silent_p.A614A|KDR_uc011bzx.1_Silent_p.A614A	p.A614A	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		13	2144	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		614			Ig-like C2-type 6.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.1842C>A	CCDS3497.1																																																																																				0.463	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			17	91	1	0	4.75e-09	1.11e-08	17	91				
REST	5978	broad.mit.edu	37	4	57797980	57797980	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:57797980T>C	ENST00000309042.7	+	4	3270	c.2956T>C	c.(2956-2958)Tcc>Ccc	p.S986P		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	986					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGAAGCAGTGTCCAAAACTGC	0.453																																						uc003hch.2		NA																	0		p.S986F(1)		skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(2956-2958)TCC>CCC		RE1-silencing transcription factor							80.0	76.0	77.0					4																	57797980		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797980T>C	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2956T>C	4.37:g.57797980T>C	ENSP00000311816:p.Ser986Pro					REST_uc003hci.2_Missense_Mutation_p.S986P|REST_uc010ihf.2_Missense_Mutation_p.S660P	p.S986P	NM_005612	NP_005603	Q13127	REST_HUMAN			4	3303	+	Glioma(25;0.08)|all_neural(26;0.181)		986					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2956T>C	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128104	0.37533	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.10099	2.91	6.17	1.03	0.20045	.	0.348012	0.24206	N	0.040570	T	0.07728	0.0194	L	0.41236	1.265	0.09310	N	1	B;B	0.27559	0.181;0.034	B;B	0.30646	0.118;0.006	T	0.26849	-1.0091	10	0.59425	D	0.04	-13.8	1.4704	0.02414	0.1416:0.1304:0.2924:0.4356	.	963;986	F8WAN5;Q13127	.;REST_HUMAN	P	986;963	ENSP00000311816:S986P	ENSP00000311816:S986P	S	+	1	0	REST	57492737	0.009000	0.17119	0.133000	0.22050	0.063000	0.16089	0.357000	0.20199	0.498000	0.27948	0.533000	0.62120	TCC		0.453	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		3	66	0	0	0	0	3	66				
PROL1	58503	broad.mit.edu	37	4	71275379	71275379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:71275379T>C	ENST00000399575.2	+	3	508	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	112	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTAAGACCTTACTATGTAGG	0.393																																						uc003hfi.2		NA																	0				large_intestine(1)	1						c.(334-336)TAC>CAC		proline rich, lacrimal 1							209.0	200.0	203.0					4																	71275379		1862	4104	5966	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275379T>C	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.334T>C	4.37:g.71275379T>C	ENSP00000382485:p.Tyr112His						p.Y112H	NM_021225	NP_067048	Q99935	PROL1_HUMAN			3	508	+		all_hematologic(202;0.196)	112			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.334T>C	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	T	6.429	0.447196	0.12223	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.97	0.769	0.18492	.	.	.	.	.	T	0.33030	0.0849	L	0.48642	1.525	0.09310	N	1	B	0.30193	0.272	B	0.32465	0.146	T	0.36648	-0.9739	8	0.87932	D	0	.	3.6816	0.08312	0.0:0.2029:0.0:0.7971	.	112	Q99935	PROL1_HUMAN	H	112	.	ENSP00000382485:Y112H	Y	+	1	0	PROL1	71309968	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.569000	0.05902	0.230000	0.21059	-0.326000	0.08463	TAC		0.393	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		48	135	0	0	0	0	48	135				
FRAS1	80144	broad.mit.edu	37	4	79207678	79207678	+	Missense_Mutation	SNP	C	C	A	rs571054129		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:79207678C>A	ENST00000325942.6	+	14	1959	c.1519C>A	c.(1519-1521)Cgc>Agc	p.R507S	FRAS1_ENST00000264895.6_Missense_Mutation_p.R507S|FRAS1_ENST00000264899.6_Missense_Mutation_p.R507S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	507					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTACCAAGATCGCCATTCCTG	0.622																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(1519-1521)CGC>AGC		Fraser syndrome 1							66.0	69.0	68.0					4																	79207678		2110	4226	6336	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79207678C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1519C>A	4.37:g.79207678C>A	ENSP00000326330:p.Arg507Ser					FRAS1_uc003hkw.2_Missense_Mutation_p.R507S|FRAS1_uc003hky.1_Missense_Mutation_p.R211S|FRAS1_uc003hkz.2_Missense_Mutation_p.R211S|FRAS1_uc003hla.1_Missense_Mutation_p.R18S	p.R507S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			14	1959	+			507			FU 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1519C>A	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.826|6.826	0.521619|0.521619	0.13005|0.13005	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899|ENST00000508900;ENST00000534913	T;T;T|.	0.46819|.	0.86;0.86;0.86|.	5.2|5.2	4.35|4.35	0.52113|0.52113	Growth factor, receptor (2);|.	0.427025|.	0.24226|.	N|.	0.040393|.	T|.	0.15652|.	0.0377|.	N|N	0.02391|0.02391	-0.57|-0.57	0.09310|0.09310	N|N	1|1	B;B;P;B|.	0.46395|.	0.097;0.161;0.877;0.427|.	B;B;B;B|.	0.37888|.	0.071;0.071;0.26;0.111|.	T|.	0.19031|.	-1.0318|.	10|.	0.20519|.	T|.	0.43|.	.|.	11.4721|11.4721	0.50275|0.50275	0.1414:0.7224:0.1361:0.0|0.1414:0.7224:0.1361:0.0	.|.	507;507;507;507|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.	.;FRAS1_HUMAN;.;.|.	S|X	507|349;251	ENSP00000326330:R507S;ENSP00000264895:R507S;ENSP00000264899:R507S|.	ENSP00000264895:R507S|.	R|S	+|+	1|2	0|0	FRAS1|FRAS1	79426702|79426702	0.056000|0.056000	0.20664|0.20664	0.844000|0.844000	0.33320|0.33320	0.005000|0.005000	0.04900|0.04900	1.982000|1.982000	0.40638|0.40638	1.181000|1.181000	0.42912|0.42912	-0.310000|-0.310000	0.09108|0.09108	CGC|TCG		0.622	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			10	57	1	0	0.00010058	0.000207695	10	57				
PRKG2	5593	broad.mit.edu	37	4	82061705	82061705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:82061705C>G	ENST00000395578.1	-	12	1642	c.1526G>C	c.(1525-1527)tGc>tCc	p.C509S	PRKG2_ENST00000418486.2_Missense_Mutation_p.C480S|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.C509S|PRKG2_ENST00000545647.1_Missense_Mutation_p.C89S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	509	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GAATGGAGAGCACAGCTCCTC	0.373																																						uc003hmh.2		NA																	0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(1525-1527)TGC>TCC		protein kinase, cGMP-dependent, type II							150.0	137.0	141.0					4																	82061705		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82061705C>G	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1526G>C	4.37:g.82061705C>G	ENSP00000378945:p.Cys509Ser					PRKG2_uc011ccf.1_Missense_Mutation_p.C89S|PRKG2_uc011ccg.1_Missense_Mutation_p.C89S|PRKG2_uc011cch.1_Missense_Mutation_p.C480S	p.C509S	NM_006259	NP_006250	Q13237	KGP2_HUMAN			11	1540	-			509			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1526G>C	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	8.609	0.888637	0.17540	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.220149	0.56097	D	0.000024	T	0.03095	0.0091	N	0.00873	-1.125	0.46222	D	0.998937	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.58429	-0.7638	10	0.34782	T	0.22	-15.0528	20.0532	0.97636	0.0:1.0:0.0:0.0	.	480;509	E7EPE6;Q13237	.;KGP2_HUMAN	S	509;509;480;89	ENSP00000378945:C509S;ENSP00000264399:C509S;ENSP00000389038:C480S;ENSP00000439967:C89S	ENSP00000264399:C509S	C	-	2	0	PRKG2	82280729	0.065000	0.20965	1.000000	0.80357	0.403000	0.30841	1.115000	0.31209	2.835000	0.97688	0.650000	0.86243	TGC		0.373	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		11	77	0	0	0	0	11	77				
HERC5	51191	broad.mit.edu	37	4	89407343	89407343	+	Silent	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:89407343A>G	ENST00000264350.3	+	14	1968	c.1815A>G	c.(1813-1815)gtA>gtG	p.V605V	HERC5_ENST00000508159.1_Silent_p.V243V	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	605					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTTTTGTAGAAGTATGCA	0.358																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2		NA																	0				ovary(4)|lung(3)|skin(2)	9						c.(1813-1815)GTA>GTG		hect domain and RLD 5							129.0	131.0	130.0					4																	89407343		2203	4300	6503	SO:0001819	synonymous_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89407343A>G	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1815A>G	4.37:g.89407343A>G						HERC5_uc011cdm.1_Silent_p.V243V	p.V605V	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	14	1968	+		Hepatocellular(203;0.114)	605					B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	c.1815A>G	CCDS3630.1																																																																																				0.358	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		18	43	0	0	0	0	18	43				
PITX2	5308	broad.mit.edu	37	4	111539443	111539443	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:111539443G>C	ENST00000354925.2	-	7	2497	c.792C>G	c.(790-792)taC>taG	p.Y264*	PITX2_ENST00000355080.5_Nonsense_Mutation_p.Y218*|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000306732.3_Nonsense_Mutation_p.Y271*|PITX2_ENST00000394598.2_Nonsense_Mutation_p.Y264*|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	264					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCGGCGGCGCGTAAGGACAGG	0.592																																						uc003iad.2		NA																	0					0						c.(790-792)TAC>TAG		paired-like homeodomain transcription factor 2							49.0	51.0	50.0					4																	111539443		2203	4300	6503	SO:0001587	stop_gained	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111539443G>C	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.792C>G	4.37:g.111539443G>C	ENSP00000347004:p.Tyr264*					PITX2_uc003iac.2_Nonsense_Mutation_p.Y271*|PITX2_uc003iae.2_Nonsense_Mutation_p.Y218*|PITX2_uc010iml.2_Nonsense_Mutation_p.Y135*|PITX2_uc003iaf.2_Nonsense_Mutation_p.Y264*	p.Y264*	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1374	-		Hepatocellular(203;0.217)	264					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Nonsense_Mutation	SNP	ENST00000354925.2	37	c.792C>G	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169159	0.78339	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837	.	.	.	5.68	-5.26	0.02772	.	0.158715	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1011	0.30857	0.5223:0.0:0.3078:0.17	.	.	.	.	X	271;264;218;264;264	.	ENSP00000304169:Y271X	Y	-	3	2	PITX2	111758892	0.286000	0.24305	0.930000	0.37139	0.935000	0.57460	-0.255000	0.08769	-0.829000	0.04268	-1.686000	0.00732	TAC		0.592	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2			8	55	0	0	0	0	8	55				
NDST3	9348	broad.mit.edu	37	4	119148127	119148127	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:119148127C>A	ENST00000296499.5	+	8	2212	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	NDST3_ENST00000433996.2_Silent_p.P522P	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	603	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAATAGGACCCCAGAAAACTG	0.368																																						uc003ibx.2		NA																	0				large_intestine(1)	1						c.(1807-1809)CCC>CCA		N-deacetylase/N-sulfotransferase (heparan							66.0	72.0	70.0					4																	119148127		2203	4300	6503	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119148127C>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1809C>A	4.37:g.119148127C>A						NDST3_uc011cgf.1_Silent_p.P522P	p.P603P	NM_004784	NP_004775	O95803	NDST3_HUMAN			8	2212	+			603			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.1809C>A	CCDS3708.1																																																																																				0.368	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		12	70	1	0	0.000978159	0.00196992	12	70				
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	G	A	rs182361575	byFrequency	TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:120446754G>A	ENST00000354960.3	-	12	2048	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000264805.5_Missense_Mutation_p.R535W|PDE5A_ENST00000394439.1_Missense_Mutation_p.R525W|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	577					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R577W(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17657	0.001		0.0	False		,,,				2504	0.0					uc003idh.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1729-1731)CGG>TGG		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						126.0	118.0	121.0					4																	120446754		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120446754G>A	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1729C>T	4.37:g.120446754G>A	ENSP00000347046:p.Arg577Trp					uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.R535W|PDE5A_uc003idg.2_Missense_Mutation_p.R525W|uc003idi.3_Intron	p.R577W	NM_001083	NP_001074	O76074	PDE5A_HUMAN			12	1884	-			577					A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1729C>T	CCDS3713.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	18.97	3.734815	0.69189	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.50277	0.75;0.75;0.75	5.06	4.21	0.49690	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.115584	0.64402	D	0.000010	T	0.72961	0.3526	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77991	-0.2379	10	0.72032	D	0.01	.	17.7073	0.88312	0.0:0.0:0.8745:0.1255	.	577;535	O76074;O76074-2	PDE5A_HUMAN;.	W	577;525;535	ENSP00000347046:R577W;ENSP00000377957:R525W;ENSP00000264805:R535W	ENSP00000264805:R535W	R	-	1	2	PDE5A	120666202	1.000000	0.71417	0.991000	0.47740	0.884000	0.51177	8.023000	0.88764	0.543000	0.28864	-0.808000	0.03180	CGG		0.448	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		25	42	0	0	0	0	25	42				
NPY2R	4887	broad.mit.edu	37	4	156136121	156136121	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:156136121C>G	ENST00000329476.3	+	2	1519	c.1030C>G	c.(1030-1032)Cag>Gag	p.Q344E	NPY2R_ENST00000506608.1_Missense_Mutation_p.Q344E	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	344					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCGCTGTGAGCAGCGGTTGGA	0.512																																						uc003ioq.2		NA																	0				lung(2)|skin(1)	3						c.(1030-1032)CAG>GAG		neuropeptide Y receptor Y2							100.0	97.0	98.0					4																	156136121		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136121C>G	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.1030C>G	4.37:g.156136121C>G	ENSP00000332591:p.Gln344Glu					NPY2R_uc003ior.2_Missense_Mutation_p.Q344E	p.Q344E	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1525	+	all_hematologic(180;0.24)	Renal(120;0.0854)	344			Cytoplasmic (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.1030C>G	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414746	0.25465	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.54071	0.59;0.59	5.74	5.74	0.90152	.	0.477052	0.21983	N	0.066264	T	0.42245	0.1194	L	0.38531	1.155	0.39127	D	0.961773	B	0.06786	0.001	B	0.01281	0.0	T	0.40683	-0.9550	10	0.02654	T	1	.	18.9076	0.92469	0.0:1.0:0.0:0.0	.	344	P49146	NPY2R_HUMAN	E	344	ENSP00000332591:Q344E;ENSP00000426366:Q344E	ENSP00000332591:Q344E	Q	+	1	0	NPY2R	156355571	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	4.068000	0.57534	2.711000	0.92665	0.643000	0.83706	CAG		0.512	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		14	71	0	0	0	0	14	71				
GLRB	2743	broad.mit.edu	37	4	158091726	158091726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:158091726G>C	ENST00000264428.4	+	10	1610	c.1340G>C	c.(1339-1341)gGa>gCa	p.G447A	GLRB_ENST00000541722.1_3'UTR|GLRB_ENST00000509282.1_Missense_Mutation_p.G447A|GLRB_ENST00000512619.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	447					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTTAACAACGGACTTGGGAAA	0.413																																						uc003ipj.2		NA																	0				skin(2)	2						c.(1339-1341)GGA>GCA		glycine receptor, beta isoform A precursor	Glycine(DB00145)						109.0	107.0	107.0					4																	158091726		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158091726G>C	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1340G>C	4.37:g.158091726G>C	ENSP00000264428:p.Gly447Ala						p.G447A	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	10	1542	+	all_hematologic(180;0.24)	Renal(120;0.0458)	447			Cytoplasmic (Probable).		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.1340G>C	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740255	0.30865	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.84873	-1.91;-1.91	5.94	5.94	0.96194	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.352415	0.35495	N	0.003177	T	0.72700	0.3493	N	0.08118	0	0.80722	D	1	B	0.20887	0.049	B	0.17979	0.02	T	0.68318	-0.5440	10	0.09338	T	0.73	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	447	P48167	GLRB_HUMAN	A	447	ENSP00000264428:G447A;ENSP00000427186:G447A	ENSP00000264428:G447A	G	+	2	0	GLRB	158311176	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.247000	0.51422	2.820000	0.97059	0.650000	0.86243	GGA		0.413	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		3	47	0	0	0	0	3	47				
FAT1	2195	broad.mit.edu	37	4	187522436	187522436	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:187522436T>C	ENST00000441802.2	-	21	11836	c.11627A>G	c.(11626-11628)tAt>tGt	p.Y3876C	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3876	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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						CAAGATGCTATAGTCAGTTCC	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11626-11628)TAT>TGT		FAT tumor suppressor 1 precursor							128.0	126.0	127.0					4																	187522436		1909	4138	6047	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.chr4:187522436T>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.11627A>G	4.37:g.187522436T>C	ENSP00000406229:p.Tyr3876Cys	HNSCC(5;0.00058)					p.Y3876C	NM_005245	NP_005236	Q14517	FAT1_HUMAN			21	11815	-			3876			Extracellular (Potential).|Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11627A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	9.539	1.112870	0.20795	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.80123	-1.34	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.127091	0.56097	D	0.000039	D	0.86920	0.6049	L	0.59912	1.85	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.84890	0.0836	10	0.28530	T	0.3	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	3876	Q14517	FAT1_HUMAN	C	3876;3878	ENSP00000406229:Y3876C	ENSP00000260147:Y3878C	Y	-	2	0	FAT1	187759430	1.000000	0.71417	0.988000	0.46212	0.097000	0.18754	5.914000	0.69964	2.281000	0.76405	0.533000	0.62120	TAT		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		3	27	0	0	0	0	3	27				
TRIML1	339976	broad.mit.edu	37	4	189068327	189068327	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr4:189068327C>A	ENST00000332517.3	+	6	1348	c.1208C>A	c.(1207-1209)cCt>cAt	p.P403H	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	403	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTCAGAGAGCCTGTGTGTAAG	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(1207-1209)CCT>CAT		tripartite motif family-like 1							153.0	137.0	142.0					4																	189068327		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068327C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1208C>A	4.37:g.189068327C>A	ENSP00000327738:p.Pro403His					TRIML1_uc003izn.1_Missense_Mutation_p.P127H	p.P403H	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1323	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	403			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.1208C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	10.36	1.329753	0.24167	.	.	ENSG00000184108	ENST00000332517	T	0.69561	-0.41	4.88	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.124247	0.37623	N	0.002017	T	0.74405	0.3712	M	0.64567	1.98	0.09310	N	1	D	0.54397	0.966	P	0.57548	0.823	T	0.67465	-0.5664	10	0.59425	D	0.04	-13.9456	12.7639	0.57380	0.165:0.835:0.0:0.0	.	403	Q8N9V2	TRIML_HUMAN	H	403	ENSP00000327738:P403H	ENSP00000327738:P403H	P	+	2	0	TRIML1	189305321	0.002000	0.14202	0.783000	0.31826	0.101000	0.19017	1.418000	0.34782	1.443000	0.47586	0.537000	0.68136	CCT		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		21	68	1	0	4.35e-09	1.02e-08	21	68				
AHRR	57491	broad.mit.edu	37	5	422969	422969	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:422969G>A	ENST00000505113.1	+	6	623	c.579G>A	c.(577-579)gaG>gaA	p.E193E	AHRR_ENST00000316418.5_Silent_p.E193E|AHRR_ENST00000512529.1_Silent_p.E39E|AHRR_ENST00000506456.1_Silent_p.E49E	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	193					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CGCCCTTGGAGACAGGTGGGT	0.602																																						uc003jav.2		NA																	0				breast(2)	2						c.(577-579)GAG>GAA		arylhydrocarbon receptor repressor							35.0	41.0	39.0					5																	422969		2029	4188	6217	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422969G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.579G>A	5.37:g.422969G>A						AHRR_uc003jaw.2_Silent_p.E189E|AHRR_uc010isy.2_Silent_p.E39E|AHRR_uc010isz.2_Silent_p.E189E|AHRR_uc003jax.2_Intron|AHRR_uc003jay.2_Silent_p.E49E	p.E193E	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	623	+			193					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.579G>A	CCDS56355.1																																																																																				0.602	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		8	32	0	0	0	0	8	32				
IRX2	153572	broad.mit.edu	37	5	2749089	2749089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:2749089C>T	ENST00000382611.6	-	3	981	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A245T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	245					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTCCCCGGCGCGGCACGGA	0.701																																						uc003jda.2		NA																	0				skin(1)	1						c.(733-735)GCC>ACC		iroquois homeobox 2							23.0	23.0	23.0					5																	2749089		2196	4291	6487	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749089C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.733G>A	5.37:g.2749089C>T	ENSP00000372056:p.Ala245Thr					IRX2_uc003jdb.2_Missense_Mutation_p.A245T	p.A245T	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	975	-			245					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.733G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	2.540	-0.306505	0.05458	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.65178	-0.14;-0.14;-0.13	4.34	0.497	0.16902	.	0.670897	0.15825	N	0.242812	T	0.40040	0.1101	L	0.31294	0.92	0.09310	N	0.999996	B	0.21688	0.059	B	0.06405	0.002	T	0.18777	-1.0326	10	0.11794	T	0.64	-2.9988	5.7002	0.17877	0.0:0.6141:0.1414:0.2445	.	245	Q9BZI1	IRX2_HUMAN	T	245;245;152	ENSP00000372056:A245T;ENSP00000307006:A245T;ENSP00000426151:A152T	ENSP00000307006:A245T	A	-	1	0	IRX2	2802089	0.003000	0.15002	0.077000	0.20336	0.105000	0.19272	0.367000	0.20382	-0.105000	0.12132	-0.253000	0.11424	GCC		0.701	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			7	36	0	0	0	0	7	36				
CTNND2	1501	broad.mit.edu	37	5	11397213	11397213	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:11397213C>G	ENST00000304623.8	-	6	731	c.542G>C	c.(541-543)gGg>gCg	p.G181A	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.G90A|CTNND2_ENST00000359640.2_Missense_Mutation_p.G181A|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	181					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTGGTTTCCCCCAGGGCCAG	0.607																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(541-543)GGG>GCG		catenin (cadherin-associated protein), delta 2							91.0	95.0	94.0					5																	11397213		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11397213C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.542G>C	5.37:g.11397213C>G	ENSP00000307134:p.Gly181Ala					CTNND2_uc010itt.2_Missense_Mutation_p.G90A|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Intron	p.G181A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			6	687	-			181					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.542G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848161	0.32699	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000513598;ENST00000508761	T;T;T	0.75050	-0.85;-0.9;-0.81	5.91	5.91	0.95273	.	0.214881	0.37955	N	0.001862	T	0.52322	0.1727	N	0.04508	-0.205	0.80722	D	1	B	0.34200	0.441	B	0.31946	0.138	T	0.58555	-0.7616	10	0.02654	T	1	-7.9757	20.2983	0.98569	0.0:1.0:0.0:0.0	.	181	Q9UQB3	CTND2_HUMAN	A	181;181;90;90;167	ENSP00000307134:G181A;ENSP00000352661:G181A;ENSP00000426510:G90A	ENSP00000307134:G181A	G	-	2	0	CTNND2	11450213	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.267000	0.78462	2.802000	0.96397	0.655000	0.94253	GGG		0.607	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		24	65	0	0	0	0	24	65				
DNAH5	1767	broad.mit.edu	37	5	13714614	13714614	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:13714614T>A	ENST00000265104.4	-	75	13129	c.13025A>T	c.(13024-13026)aAg>aTg	p.K4342M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4342					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGTGTCCTTGGGTTGGAT	0.607									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(13024-13026)AAG>ATG		dynein, axonemal, heavy chain 5							95.0	85.0	88.0					5																	13714614		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13714614T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13025A>T	5.37:g.13714614T>A	ENSP00000265104:p.Lys4342Met					DNAH5_uc003jfc.2_Missense_Mutation_p.K510M	p.K4342M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			75	13067	-	Lung NSC(4;0.00476)		4342					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13025A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375895	0.82682	.	.	ENSG00000039139	ENST00000265104	T	0.10192	2.9	5.22	4.04	0.47022	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59257	-0.7488	10	0.87932	D	0	.	11.4443	0.50114	0.1351:0.0:0.0:0.8649	.	4342	Q8TE73	DYH5_HUMAN	M	4342	ENSP00000265104:K4342M	ENSP00000265104:K4342M	K	-	2	0	DNAH5	13767614	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.020000	0.88740	0.814000	0.34374	0.533000	0.62120	AAG		0.607	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	76	0	0	0	0	15	76				
PRDM9	56979	broad.mit.edu	37	5	23524491	23524491	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:23524491C>G	ENST00000296682.3	+	10	1181	c.999C>G	c.(997-999)ttC>ttG	p.F333L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	333	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGTGGCCTTCCAGTACCACA	0.537										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(997-999)TTC>TTG		PR domain containing 9							69.0	70.0	70.0					5																	23524491		1894	4099	5993	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524491C>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.999C>G	5.37:g.23524491C>G	ENSP00000296682:p.Phe333Leu	HNSCC(3;0.000094)					p.F333L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1181	+			333			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.999C>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888937	0.33348	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.64991	-0.13	4.23	-1.3	0.09259	SET domain (2);	.	.	.	.	T	0.40322	0.1112	N	0.21545	0.675	0.39695	D	0.971102	B	0.12630	0.006	B	0.10450	0.005	T	0.10965	-1.0607	9	0.41790	T	0.15	-7.7259	4.4282	0.11515	0.0:0.3848:0.1809:0.4343	.	333	Q9NQV7	PRDM9_HUMAN	L	333;127	ENSP00000296682:F333L	ENSP00000253473:F127L	F	+	3	2	PRDM9	23560248	0.840000	0.29493	0.997000	0.53966	0.995000	0.86356	-0.334000	0.07883	-0.124000	0.11724	0.597000	0.82753	TTC		0.537	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		13	57	0	0	0	0	13	57				
HMGCS1	3157	broad.mit.edu	37	5	43295957	43295957	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:43295957A>T	ENST00000325110.6	-	6	1008	c.802T>A	c.(802-804)Tgt>Agt	p.C268S	HMGCS1_ENST00000433297.2_Missense_Mutation_p.C268S	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	268					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCAGTTTACAATATGGTGAG	0.353																																						uc003jnr.3		NA																	0					0						c.(802-804)TGT>AGT		hydroxymethylglutaryl-CoA synthase 1							75.0	78.0	77.0					5																	43295957		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43295957A>T		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.802T>A	5.37:g.43295957A>T	ENSP00000322706:p.Cys268Ser					HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Missense_Mutation_p.C268S	p.C268S	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			6	1009	-			268					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.802T>A	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485375	0.84854	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.78707	-1.2;-1.2	5.66	5.66	0.87406	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.87767	0.6260	M	0.84082	2.675	0.80722	D	1	D	0.64830	0.994	D	0.63283	0.913	D	0.88825	0.3301	10	0.52906	T	0.07	-30.853	15.8804	0.79201	1.0:0.0:0.0:0.0	.	268	Q01581	HMCS1_HUMAN	S	268;268;257	ENSP00000322706:C268S;ENSP00000399402:C268S	ENSP00000322706:C268S	C	-	1	0	HMGCS1	43331714	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	8.962000	0.93254	2.160000	0.67779	0.477000	0.44152	TGT		0.353	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			11	55	0	0	0	0	11	55				
MCCC2	64087	broad.mit.edu	37	5	70952610	70952610	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:70952610C>T	ENST00000340941.6	+	17	1744	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	MCCC2_ENST00000323375.8_Silent_p.L501L	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	539	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGACACCAGACTGGTCTTGGG	0.413																																						uc003kbs.3		NA																	0				ovary(1)	1						c.(1615-1617)CTG>TTG		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						265.0	249.0	255.0					5																	70952610		2203	4300	6503	SO:0001819	synonymous_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70952610C>T	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1615C>T	5.37:g.70952610C>T						MCCC2_uc003kbt.3_RNA	p.L539L	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	17	1753	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	539			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Silent	SNP	ENST00000340941.6	37	c.1615C>T	CCDS34184.1																																																																																				0.413	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			37	74	0	0	0	0	37	74				
IQGAP2	10788	broad.mit.edu	37	5	75989261	75989261	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:75989261G>T	ENST00000274364.6	+	31	4284	c.3987G>T	c.(3985-3987)gcG>gcT	p.A1329A	IQGAP2_ENST00000379730.3_Silent_p.A831A|IQGAP2_ENST00000502745.1_Silent_p.A825A|IQGAP2_ENST00000396234.3_Silent_p.A825A|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGCAACTGCGCAACAGGTAA	0.363																																						uc003kek.2		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(3985-3987)GCG>GCT		IQ motif containing GTPase activating protein 2							85.0	80.0	82.0					5																	75989261		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75989261G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3987G>T	5.37:g.75989261G>T						IQGAP2_uc011csv.1_Silent_p.A825A|IQGAP2_uc003kel.2_Silent_p.A825A|IQGAP2_uc010izw.1_Silent_p.A30A	p.A1329A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	31	4209	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1329					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.3987G>T	CCDS34188.1																																																																																				0.363	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		7	19	1	0	5.49e-09	1.27e-08	7	19				
VCAN	1462	broad.mit.edu	37	5	82836553	82836553	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:82836553C>G	ENST00000265077.3	+	8	8296	c.7731C>G	c.(7729-7731)atC>atG	p.I2577M	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I1590M|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2577	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAAATACTATCATAGATATTG	0.358																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(7729-7731)ATC>ATG		versican isoform 1 precursor							59.0	62.0	61.0					5																	82836553		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836553C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7731C>G	5.37:g.82836553C>G	ENSP00000265077:p.Ile2577Met					VCAN_uc003kij.3_Missense_Mutation_p.I1590M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.I1241M	p.I2577M	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8087	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2577			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7731C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133352	0.56828	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.50548	0.74;0.74	6.04	5.17	0.71159	.	0.000000	0.64402	D	0.000005	T	0.63850	0.2546	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65886	-0.6059	10	0.56958	D	0.05	.	7.7778	0.29048	0.0:0.7776:0.0:0.2224	.	1590;2577	P13611-2;P13611	.;CSPG2_HUMAN	M	2577;1590	ENSP00000265077:I2577M;ENSP00000340062:I1590M	ENSP00000265077:I2577M	I	+	3	3	VCAN	82872309	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.005000	0.40864	1.539000	0.49286	0.563000	0.77884	ATC		0.358	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		17	28	0	0	0	0	17	28				
PCDHB8	56128	broad.mit.edu	37	5	140559200	140559200	+	Missense_Mutation	SNP	G	G	C	rs569991554		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140559200G>C	ENST00000239444.2	+	1	1830	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCGTTCGAGTTCCGGGT	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		23409	0.0		0.001	False		,,,				2504	0.0					uc011dai.1		NA																	0				skin(4)	4						c.(1585-1587)GAG>CAG		protocadherin beta 8 precursor							88.0	146.0	126.0					5																	140559200		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559200G>C	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1585G>C	5.37:g.140559200G>C	ENSP00000239444:p.Glu529Gln					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.E529Q	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1771	+			529			Cadherin 5.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1585G>C	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	1.087	-0.665231	0.03428	.	.	ENSG00000120322	ENST00000239444	T	0.01767	4.65	4.22	2.28	0.28536	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01353	0.0044	N	0.03238	-0.38	0.28822	N	0.897631	B	0.29590	0.25	B	0.42422	0.387	T	0.49041	-0.8980	9	0.08179	T	0.78	.	8.9256	0.35639	0.099:0.4417:0.4593:0.0	.	529	Q9UN66	PCDB8_HUMAN	Q	529	ENSP00000239444:E529Q	ENSP00000239444:E529Q	E	+	1	0	PCDHB8	140539384	0.000000	0.05858	0.885000	0.34714	0.298000	0.27526	-1.606000	0.02072	0.735000	0.32537	0.298000	0.19748	GAG		0.677	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		54	255	0	0	0	0	54	255				
PCDHB16	57717	broad.mit.edu	37	5	140563937	140563937	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140563937G>C	ENST00000361016.2	+	1	2958	c.1803G>C	c.(1801-1803)tgG>tgC	p.W601C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAATGCCTGGCTGTCGTACC	0.721																																						uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1801-1803)TGG>TGC		protocadherin beta 16 precursor							24.0	25.0	25.0					5																	140563937		2048	3835	5883	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563937G>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1803G>C	5.37:g.140563937G>C	ENSP00000354293:p.Trp601Cys					PCDHB9_uc003liw.1_5'Flank	p.W601C	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2958	+			601			Cadherin 6.|Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1803G>C	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.222312	0.79464	.	.	ENSG00000196963	ENST00000361016	T	0.51071	0.72	4.12	4.12	0.48240	Cadherin (4);Cadherin-like (1);	0.000000	0.32231	N	0.006394	T	0.77691	0.4168	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85961	0.1470	10	0.87932	D	0	.	16.0538	0.80779	0.0:0.0:1.0:0.0	.	601	Q9NRJ7	PCDBG_HUMAN	C	601	ENSP00000354293:W601C	ENSP00000354293:W601C	W	+	3	0	PCDHB16	140544121	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.376000	0.79658	1.860000	0.53959	0.479000	0.44913	TGG		0.721	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		52	40	0	0	0	0	52	40				
PCDHB13	56123	broad.mit.edu	37	5	140594219	140594219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:140594219C>G	ENST00000341948.4	+	1	711	c.524C>G	c.(523-525)cCc>cGc	p.P175R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAATCAGCCCCAACTCCTAT	0.493																																						uc003lja.1		NA																	0				skin(2)|ovary(1)	3						c.(523-525)CCC>CGC		protocadherin beta 13 precursor							50.0	54.0	53.0					5																	140594219		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594219C>G	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.524C>G	5.37:g.140594219C>G	ENSP00000345491:p.Pro175Arg						p.P175R	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	711	+			175			Cadherin 2.|Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.524C>G	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	15.87	2.960753	0.53400	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51817	0.69	3.55	0.16	0.14972	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61540	0.2355	M	0.81239	2.535	0.09310	N	1	D	0.58970	0.984	D	0.64687	0.928	T	0.50092	-0.8868	9	0.87932	D	0	.	3.9704	0.09451	0.1469:0.4741:0.2878:0.0912	.	175	Q9Y5F0	PCDBD_HUMAN	R	175	ENSP00000345491:P175R	ENSP00000345491:P175R	P	+	2	0	PCDHB13	140574403	0.000000	0.05858	0.058000	0.19502	0.596000	0.36781	-1.656000	0.01980	0.105000	0.17753	0.313000	0.20887	CCC		0.493	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		25	43	0	0	0	0	25	43				
MGAT1	4245	broad.mit.edu	37	5	180219088	180219088	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr5:180219088G>T	ENST00000446023.2	-	3	1634	c.884C>A	c.(883-885)cCg>cAg	p.P295Q	MGAT1_ENST00000393340.3_Missense_Mutation_p.P295Q|MGAT1_ENST00000333055.3_Missense_Mutation_p.P295Q|MGAT1_ENST00000427865.2_Missense_Mutation_p.P295Q|MGAT1_ENST00000307826.4_Missense_Mutation_p.P295Q	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	295					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCTCCGGCCGCCGCAT	0.647																																						uc003mmg.3		NA																	0				ovary(1)	1						c.(883-885)CCG>CAG		mannosyl (alpha-1,3-)-glycoprotein							18.0	21.0	20.0					5																	180219088		2161	4217	6378	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219088G>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.884C>A	5.37:g.180219088G>T	ENSP00000404718:p.Pro295Gln					MGAT1_uc010jlf.2_Missense_Mutation_p.P295Q|MGAT1_uc010jlg.2_Missense_Mutation_p.P295Q|MGAT1_uc003mmh.3_Missense_Mutation_p.P295Q|MGAT1_uc010jlh.2_Missense_Mutation_p.P295Q|MGAT1_uc003mmi.3_Missense_Mutation_p.P295Q	p.P295Q	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1379	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	295			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.884C>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395497	0.62066	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.2	5.2	0.72013	.	0.059854	0.64402	D	0.000002	D	0.92166	0.7516	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.92964	0.6391	10	0.87932	D	0	-12.9214	16.6011	0.84816	0.0:0.0:1.0:0.0	.	295	P26572	MGAT1_HUMAN	Q	295;295;295;295;152;295	ENSP00000332073:P295Q;ENSP00000311888:P295Q;ENSP00000404718:P295Q;ENSP00000377010:P295Q;ENSP00000402838:P295Q	ENSP00000311888:P295Q	P	-	2	0	MGAT1	180151694	1.000000	0.71417	0.964000	0.40570	0.665000	0.39181	7.111000	0.77077	2.586000	0.87340	0.655000	0.94253	CCG		0.647	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		17	12	1	0	3.88e-16	9.64e-16	17	12				
MRS2	57380	broad.mit.edu	37	6	24423169	24423169	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:24423169A>G	ENST00000378386.3	+	10	1205	c.1112A>G	c.(1111-1113)cAt>cGt	p.H371R	MRS2_ENST00000535061.1_Missense_Mutation_p.H321R|MRS2_ENST00000378353.1_Missense_Mutation_p.H371R|MRS2_ENST00000543597.1_Missense_Mutation_p.H80R|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.H374R	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	371						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTTAGGACCATAGAATTTTT	0.438																																						uc003neb.2		NA																	0					0						c.(1111-1113)CAT>CGT		MRS2-like, magnesium homeostasis factor							146.0	137.0	140.0					6																	24423169		2203	4300	6503	SO:0001583	missense	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24423169A>G	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1112A>G	6.37:g.24423169A>G	ENSP00000367637:p.His371Arg					MRS2_uc003nea.2_Missense_Mutation_p.H371R|MRS2_uc011djl.1_Missense_Mutation_p.H374R|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.H321R|MRS2_uc003nec.2_Missense_Mutation_p.H248R	p.H371R	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN			10	1234	+			371			Mitochondrial intermembrane (Potential).		A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	c.1112A>G	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926033	0.34002	.	.	ENSG00000124532	ENST00000543597;ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	T;T;T;T;T	0.43688	0.95;1.54;1.51;0.94;1.5	6.15	5.01	0.66863	.	0.049485	0.85682	D	0.000000	T	0.11239	0.0274	N	0.24115	0.695	0.38649	D	0.951802	B;B;B;B	0.15930	0.007;0.015;0.001;0.003	B;B;B;B	0.12156	0.003;0.007;0.002;0.002	T	0.16070	-1.0415	10	0.18710	T	0.47	-23.987	5.369	0.16129	0.5671:0.2949:0.1381:0.0	.	321;374;371;371	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.;.;MRS2_HUMAN;.	R	80;321;371;371;374	ENSP00000438118:H80R;ENSP00000441839:H321R;ENSP00000367637:H371R;ENSP00000367604:H371R;ENSP00000399585:H374R	ENSP00000367604:H371R	H	+	2	0	MRS2	24531148	0.960000	0.32886	0.945000	0.38365	0.545000	0.35147	2.387000	0.44389	2.363000	0.80096	0.523000	0.50628	CAT		0.438	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			40	58	0	0	0	0	40	58				
LY6G6C	80740	broad.mit.edu	37	6	31692374	31692374	+	5'Flank	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:31692374C>A	ENST00000375819.2	-	0	0				LY6G6C_ENST00000495859.1_5'Flank|C6orf25_ENST00000480039.1_Missense_Mutation_p.P171T|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375810.4_Missense_Mutation_p.P171T|C6orf25_ENST00000375805.2_Silent_p.P140P|C6orf25_ENST00000375809.3_Missense_Mutation_p.P171T	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GCGCCTGCCCCCGCAACCGAT	0.542																																						uc011doc.1		NA																	0					0						c.(511-513)CCG>ACG		G6B protein isoform G6b-B precursor							148.0	139.0	142.0					6																	31692374		2203	4300	6503	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692374C>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692374C>A	Exception_encountered					LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.P171T|C6orf25_uc011dod.1_Intron|C6orf25_uc011doe.1_Silent_p.P140P|C6orf25_uc003nwo.2_Intron|C6orf25_uc003nwn.2_Missense_Mutation_p.P171T	p.P171T	NM_138272	NP_612116	O95866	G6B_HUMAN			4	511	+			171			Cytoplasmic (Potential).		Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.511C>A	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529450	0.64860	.	.	ENSG00000204420	ENST00000480039;ENST00000375810;ENST00000375809;ENST00000375806	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.79	3.92	0.45320	.	0.601593	0.14935	N	0.289831	T	0.46405	0.1391	.	.	.	0.09310	N	1	D;P;D	0.53462	0.96;0.893;0.96	P;P;P	0.52217	0.693;0.563;0.693	T	0.30504	-0.9976	9	0.52906	T	0.07	-13.1013	8.2974	0.31993	0.0:0.8954:0.0:0.1046	.	171;171;171	O95866;O95866-7;B0V023	G6B_HUMAN;.;.	T	171	ENSP00000419306:P171T;ENSP00000364968:P171T;ENSP00000364967:P171T;ENSP00000364964:P171T	ENSP00000364964:P171T	P	+	1	0	C6orf25	31800353	0.000000	0.05858	0.138000	0.22173	0.463000	0.32649	0.457000	0.21875	2.661000	0.90470	0.585000	0.79938	CCG		0.542	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			14	86	1	0	2.23e-06	4.87e-06	14	86				
EHMT2	10919	broad.mit.edu	37	6	31864040	31864040	+	Splice_Site	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:31864040C>T	ENST00000375537.4	-	4	588	c.582G>A	c.(580-582)caG>caA	p.Q194Q	EHMT2_ENST00000375528.4_Splice_Site_p.Q251Q|EHMT2_ENST00000375530.4_Splice_Site_p.Q194Q|C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Splice_Site_p.Q251Q	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	194					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCCCACTCACCTGTCCATTTC	0.512																																						uc003nxz.1		NA																	0				ovary(1)	1						c.(580-582)CAG>CAA		euchromatic histone-lysine N-methyltransferase 2							110.0	106.0	108.0					6																	31864040		1511	2709	4220	SO:0001630	splice_region_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31864040C>T	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.582+1G>A	6.37:g.31864040C>T						EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Silent_p.Q251Q|EHMT2_uc003nya.1_Silent_p.Q194Q|EHMT2_uc003nyb.1_Silent_p.Q194Q|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	p.Q194Q	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			4	592	-			194					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.582G>A	CCDS4725.1																																																																																				0.512	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	Silent	44	62	0	0	0	0	44	62				
TDRD6	221400	broad.mit.edu	37	6	46660541	46660541	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:46660541C>A	ENST00000316081.6	+	1	4676	c.4676C>A	c.(4675-4677)gCa>gAa	p.A1559E	TDRD6_ENST00000544460.1_Missense_Mutation_p.A1559E	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1559					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAACAGGTAGCAGACAGGAGA	0.388																																						uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(4675-4677)GCA>GAA		tudor domain containing 6							143.0	135.0	138.0					6																	46660541		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660541C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4676C>A	6.37:g.46660541C>A	ENSP00000346065:p.Ala1559Glu					TDRD6_uc010jze.2_Missense_Mutation_p.A1553E	p.A1559E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4676	+			1559					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4676C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.089	-1.169894	0.01660	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09255	3.0;3.0	5.87	-2.7	0.06004	Maternal tudor protein (1);	1.969230	0.01895	N	0.038810	T	0.01124	0.0037	N	0.13235	0.315	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.25398	-1.0133	10	0.02654	T	1	-0.4536	4.396	0.11363	0.094:0.452:0.0933:0.3607	.	1559;1559	F5H5M3;O60522	.;TDRD6_HUMAN	E	1559	ENSP00000443299:A1559E;ENSP00000346065:A1559E	ENSP00000346065:A1559E	A	+	2	0	TDRD6	46768500	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-0.646000	0.05452	-2.386000	0.00229	GCA		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		6	47	1	0	1.07e-07	2.41e-07	6	47				
RFX6	222546	broad.mit.edu	37	6	117240431	117240431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:117240431G>A	ENST00000332958.2	+	11	1170	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	385					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R385Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCTCTGAAACGACAAACATCT	0.388																																						uc003pxm.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1153-1155)CGA>CAA		regulatory factor X, 6							107.0	105.0	105.0					6																	117240431		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117240431G>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1154G>A	6.37:g.117240431G>A	ENSP00000332208:p.Arg385Gln						p.R385Q	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			11	1217	+			385					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1154G>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	36	5.765789	0.96914	.	.	ENSG00000185002	ENST00000332958	T	0.75704	-0.96	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.84082	2.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.87083	0.2167	10	0.87932	D	0	-14.9338	20.6721	0.99693	0.0:0.0:1.0:0.0	.	385	Q8HWS3	RFX6_HUMAN	Q	385	ENSP00000332208:R385Q	ENSP00000332208:R385Q	R	+	2	0	RFX6	117347124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.295000	0.96095	2.894000	0.99253	0.591000	0.81541	CGA		0.388	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		9	43	0	0	0	0	9	43				
TMEM200A	114801	broad.mit.edu	37	6	130761863	130761863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:130761863C>T	ENST00000296978.3	+	3	1167	c.296C>T	c.(295-297)aCa>aTa	p.T99I	TMEM200A_ENST00000545622.1_Missense_Mutation_p.T99I|TMEM200A_ENST00000392429.1_Missense_Mutation_p.T99I	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	99						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACTGTCAACAAATGAAACT	0.418																																						uc003qca.2		NA																	0				ovary(1)	1						c.(295-297)ACA>ATA		transmembrane protein 200A							104.0	94.0	98.0					6																	130761863		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761863C>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.296C>T	6.37:g.130761863C>T	ENSP00000296978:p.Thr99Ile					TMEM200A_uc010kfh.2_Missense_Mutation_p.T99I|TMEM200A_uc010kfi.2_Missense_Mutation_p.T99I|TMEM200A_uc003qcb.2_Missense_Mutation_p.T99I	p.T99I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1167	+			99			Extracellular (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.296C>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941616	0.34283	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.46	5.46	0.80206	.	0.558129	0.19630	N	0.109681	T	0.11281	0.0275	N	0.14661	0.345	0.23953	N	0.996369	B	0.22604	0.072	B	0.22753	0.041	T	0.03695	-1.1012	9	0.42905	T	0.14	.	7.1275	0.25479	0.0:0.7922:0.0:0.2078	.	99	Q86VY9	T200A_HUMAN	I	99	.	ENSP00000296978:T99I	T	+	2	0	TMEM200A	130803556	0.054000	0.20591	0.996000	0.52242	0.992000	0.81027	1.706000	0.37878	2.547000	0.85894	0.655000	0.94253	ACA		0.418	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		27	42	0	0	0	0	27	42				
C6orf118	168090	broad.mit.edu	37	6	165715309	165715309	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:165715309G>T	ENST00000230301.8	-	2	522	c.502C>A	c.(502-504)Cct>Act	p.P168T	C6orf118_ENST00000543069.1_Missense_Mutation_p.P64T	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	168										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CATCCAGGAGGGCCCCGTCCA	0.622																																						uc003qum.3		NA																	0					0						c.(502-504)CCT>ACT		hypothetical protein LOC168090							38.0	46.0	43.0					6																	165715309		2203	4299	6502	SO:0001583	missense	168090							g.chr6:165715309G>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.502C>A	6.37:g.165715309G>T	ENSP00000230301:p.Pro168Thr					C6orf118_uc011egi.1_RNA	p.P168T	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	538	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	168					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.502C>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	3.988	-0.004978	0.07773	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13196	2.61;2.61	4.79	-6.47	0.01902	.	0.891934	0.09614	N	0.778474	T	0.01489	0.0048	N	0.22421	0.69	0.09310	N	1	B	0.28933	0.228	B	0.27796	0.083	T	0.44081	-0.9351	10	0.23302	T	0.38	0.0737	0.2139	0.00159	0.3304:0.2205:0.1408:0.3083	.	168	Q5T5N4	CF118_HUMAN	T	168;64	ENSP00000230301:P168T;ENSP00000439288:P64T	ENSP00000230301:P168T	P	-	1	0	C6orf118	165635299	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.403000	0.07214	-1.137000	0.02888	-0.136000	0.14681	CCT		0.622	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		33	42	1	0	8.42e-14	2.05e-13	33	42				
PDE10A	10846	broad.mit.edu	37	6	165832125	165832125	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:165832125T>C	ENST00000366882.1	-	12	1120	c.966A>G	c.(964-966)atA>atG	p.I322M	PDE10A_ENST00000539869.2_Missense_Mutation_p.I332M|PDE10A_ENST00000354448.4_Missense_Mutation_p.I322M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	322	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGCTGTACCTTATCTCTTTGG	0.413																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	0				ovary(3)|skin(2)	5						c.(964-966)ATA>ATG		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						145.0	128.0	134.0					6																	165832125		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165832125T>C	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.966A>G	6.37:g.165832125T>C	ENSP00000355847:p.Ile322Met					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I252M|PDE10A_uc003quo.2_Missense_Mutation_p.I332M	p.I322M	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	12	1207	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	322			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.966A>G		.	.	.	.	.	.	.	.	.	.	T	18.60	3.658423	0.67586	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.68181	-0.31;-0.31	5.17	-6.93	0.01638	GAF (2);	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.996;0.994	D	0.84426	0.0574	10	0.46703	T	0.11	.	19.2859	0.94069	0.0:0.0:0.7789:0.2211	.	332;322	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	322;350;332;322;321	ENSP00000355847:I322M;ENSP00000346435:I322M	ENSP00000341187:I332M	I	-	3	3	PDE10A	165752115	0.867000	0.29959	0.984000	0.44739	0.992000	0.81027	-0.089000	0.11180	-1.093000	0.03058	0.533000	0.62120	ATA		0.413	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			19	29	0	0	0	0	19	29				
MLLT4	4301	broad.mit.edu	37	6	168344628	168344628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:168344628G>A	ENST00000447894.2	+	25	3226	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	MLLT4_ENST00000392112.1_Missense_Mutation_p.E1059K|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1075K|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1076K|MLLT4_ENST00000366806.2_Missense_Mutation_p.E1076K|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1083K|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1076K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1076	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TAGGGCGGCAGAACTCATGAC	0.478			T	MLL	AL																																	uc003qwd.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(3223-3225)GAA>AAA		myeloid/lymphoid or mixed-lineage leukemia							107.0	95.0	99.0					6																	168344628		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168344628G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3226G>A	6.37:g.168344628G>A	ENSP00000404595:p.Glu1076Lys					MLLT4_uc003qwb.1_Missense_Mutation_p.E1060K|MLLT4_uc003qwc.1_Missense_Mutation_p.E1076K|MLLT4_uc003qwg.1_Missense_Mutation_p.E385K	p.E1075K	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	25	3365	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1076			PDZ.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3223G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.254661	0.95336	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	L	0.41027	1.25	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.992;0.991	D;D;P;D	0.78314	0.966;0.991;0.857;0.94	T	0.46569	-0.9182	10	0.62326	D	0.03	0.1937	18.1404	0.89637	0.0:0.0:1.0:0.0	.	1076;1075;1076;1060	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	K	1076;1083;1076;1076;1059;1076;1075;1076	ENSP00000341118:E1076K;ENSP00000252692:E1083K;ENSP00000375956:E1076K;ENSP00000355771:E1076K;ENSP00000375960:E1059K;ENSP00000383623:E1075K;ENSP00000404595:E1076K	ENSP00000345834:E1076K	E	+	1	0	MLLT4	168087477	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.268000	0.95675	2.257000	0.74773	0.650000	0.86243	GAA		0.478	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		25	38	0	0	0	0	25	38				
MIOS	54468	broad.mit.edu	37	7	7622858	7622858	+	Silent	SNP	G	G	A	rs375204213		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:7622858G>A	ENST00000340080.4	+	6	1924	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	MIOS_ENST00000405785.1_Silent_p.K501K|MIOS_ENST00000461907.2_3'UTR	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	501						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGGATAAAGAAAGGAACGG	0.413																																						uc003srf.2		NA																	0					0						c.(1501-1503)AAG>AAA		missing oocyte, meiosis regulator, homolog		G		5,3761		0,5,1878	164.0	169.0	167.0		1503	4.8	1.0	7		167	0,8208		0,0,4104	no	coding-synonymous	MIOS	NM_019005.3		0,5,5982	AA,AG,GG		0.0,0.1328,0.0418		501/876	7622858	5,11969	1883	4104	5987	SO:0001819	synonymous_variant	54468							g.chr7:7622858G>A		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1503G>A	7.37:g.7622858G>A						MIOS_uc003srg.2_Silent_p.K36K|MIOS_uc010ktq.2_5'Flank	p.K501K	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			6	1811	+			501					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.1503G>A	CCDS43554.1																																																																																				0.413	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		6	84	0	0	0	0	6	84				
TBRG4	9238	broad.mit.edu	37	7	45141455	45141455	+	Silent	SNP	G	G	A	rs185734821		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:45141455G>A	ENST00000258770.3	-	8	1657	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000494076.1_Silent_p.L512L|TBRG4_ENST00000361278.3_Silent_p.L402L|TBRG4_ENST00000395655.4_Silent_p.L402L	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	512					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TGGCCACCTCGAGGCTGCCCT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		18315	0.001		0.0	False		,,,				2504	0.0					uc003tmv.2		NA																	0					0						c.(1534-1536)CTC>CTT		cell cycle progression 2 protein isoform 1							43.0	51.0	48.0					7																	45141455		2203	4300	6503	SO:0001819	synonymous_variant	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45141455G>A	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1536C>T	7.37:g.45141455G>A						TBRG4_uc003tmu.2_Silent_p.L337L|TBRG4_uc003tmw.2_Silent_p.L402L|TBRG4_uc003tmx.2_Silent_p.L402L|TBRG4_uc011kcd.1_Silent_p.L523L	p.L512L	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN			8	1662	-			512					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Silent	SNP	ENST00000258770.3	37	c.1536C>T	CCDS5501.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.924	0.540136	0.13250	.	.	ENSG00000136270	ENST00000483615	.	.	.	4.88	-2.2	0.06994	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1442	0.20276	0.4571:0.2433:0.2996:0.0	.	.	.	.	X	227	.	.	R	-	1	2	TBRG4	45107980	0.091000	0.21658	0.003000	0.11579	0.898000	0.52572	0.397000	0.20883	-0.291000	0.09012	-0.136000	0.14681	CGA		0.662	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		15	62	0	0	0	0	15	62				
CALN1	83698	broad.mit.edu	37	7	71571178	71571178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:71571178C>T	ENST00000329008.5	-	3	518	c.220G>A	c.(220-222)Gag>Aag	p.E74K	CALN1_ENST00000431984.1_Missense_Mutation_p.E74K|CALN1_ENST00000395276.2_Missense_Mutation_p.E74K|CALN1_ENST00000395275.2_Missense_Mutation_p.E116K|CALN1_ENST00000405452.2_Missense_Mutation_p.E74K|CALN1_ENST00000412588.1_Missense_Mutation_p.E116K	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	74	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGCTCCACCTCGCTTGGCATG	0.597																																						uc003twa.3		NA																	0				skin(1)	1						c.(220-222)GAG>AAG		calneuron 1 isoform 2							77.0	59.0	65.0					7																	71571178		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571178C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.220G>A	7.37:g.71571178C>T	ENSP00000332498:p.Glu74Lys					CALN1_uc003twb.3_Missense_Mutation_p.E116K|CALN1_uc003twc.3_Missense_Mutation_p.E74K	p.E74K	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			3	747	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	74			EF-hand 2.|Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.220G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175195	0.78564	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.69	5.69	0.88448	EF-hand-like domain (1);	0.046735	0.85682	D	0.000000	T	0.69797	0.3151	L	0.45228	1.405	0.58432	D	0.999999	P;P	0.48089	0.905;0.905	P;P	0.44811	0.461;0.461	T	0.73591	-0.3934	10	0.72032	D	0.01	-24.4953	18.8514	0.92232	0.0:1.0:0.0:0.0	.	74;74	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	K	74;116;74;74;116;74;74	ENSP00000332498:E74K;ENSP00000378690:E116K;ENSP00000378691:E74K;ENSP00000410704:E74K;ENSP00000391882:E116K;ENSP00000384354:E74K;ENSP00000411806:E74K	ENSP00000332498:E74K	E	-	1	0	CALN1	71209114	1.000000	0.71417	0.963000	0.40424	0.595000	0.36748	7.474000	0.81024	2.713000	0.92767	0.644000	0.83932	GAG		0.597	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		4	44	0	0	0	0	4	44				
PCLO	27445	broad.mit.edu	37	7	82580057	82580057	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:82580057G>C	ENST00000333891.9	-	6	10184	c.9847C>G	c.(9847-9849)Cag>Gag	p.Q3283E	PCLO_ENST00000437081.1_Missense_Mutation_p.Q3E|PCLO_ENST00000423517.2_Missense_Mutation_p.Q3283E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACGTCTCCTGCCTCATCATG	0.483																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(9847-9849)CAG>GAG		piccolo isoform 1							145.0	135.0	138.0					7																	82580057		1995	4194	6189	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580057G>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9847C>G	7.37:g.82580057G>C	ENSP00000334319:p.Gln3283Glu					PCLO_uc003uhv.2_Missense_Mutation_p.Q3283E|PCLO_uc010lec.2_Missense_Mutation_p.Q248E	p.Q3283E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10136	-			3214			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9847C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740959	0.30865	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19938	2.11;2.12	5.29	5.29	0.74685	.	.	.	.	.	T	0.42177	0.1191	M	0.61703	1.905	0.44635	D	0.997618	P;D;D	0.69078	0.787;0.995;0.997	B;P;P	0.58873	0.404;0.847;0.847	T	0.29336	-1.0015	9	0.87932	D	0	.	18.8783	0.92347	0.0:0.0:1.0:0.0	.	3214;3283;3283	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	E	3214;3283;3283;3	ENSP00000334319:Q3283E;ENSP00000388393:Q3283E	ENSP00000334319:Q3283E	Q	-	1	0	PCLO	82417993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.571000	0.60879	2.634000	0.89283	0.563000	0.77884	CAG		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		19	175	0	0	0	0	19	175				
SAMD9	54809	broad.mit.edu	37	7	92733867	92733867	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92733867C>A	ENST00000379958.2	-	3	1813	c.1544G>T	c.(1543-1545)aGa>aTa	p.R515I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	515						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTCTTTCTCTTTGCCAGGA	0.388																																						uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1543-1545)AGA>ATA		sterile alpha motif domain containing 9							92.0	95.0	94.0					7																	92733867		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92733867C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1544G>T	7.37:g.92733867C>A	ENSP00000369292:p.Arg515Ile					SAMD9_uc003umg.2_Missense_Mutation_p.R515I	p.R515I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1800	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		515					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1544G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104433	0.37145	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.09445	2.98;2.98	4.08	0.192	0.15134	.	0.447998	0.18004	U	0.154806	T	0.10723	0.0262	L	0.55103	1.725	0.41337	D	0.987273	B	0.21905	0.062	B	0.21708	0.036	T	0.09164	-1.0687	10	0.87932	D	0	.	8.0016	0.30299	0.0:0.5325:0.0:0.4675	.	515	Q5K651	SAMD9_HUMAN	I	515	ENSP00000369292:R515I;ENSP00000414529:R515I	ENSP00000369292:R515I	R	-	2	0	SAMD9	92571803	0.894000	0.30519	1.000000	0.80357	0.994000	0.84299	-0.010000	0.12743	0.136000	0.18733	-0.216000	0.12614	AGA		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		15	156	1	0	1.36e-06	3e-06	15	156				
SAMD9L	219285	broad.mit.edu	37	7	92762801	92762801	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92762801T>C	ENST00000318238.4	-	5	3700	c.2484A>G	c.(2482-2484)cgA>cgG	p.R828R	SAMD9L_ENST00000437805.1_Silent_p.R828R|SAMD9L_ENST00000411955.1_Silent_p.R828R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	828					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTTCATATCGCAAATCCT	0.358																																						uc003umh.1		NA																	0				ovary(4)	4						c.(2482-2484)CGA>CGG		sterile alpha motif domain containing 9-like							80.0	82.0	81.0					7																	92762801		2203	4299	6502	SO:0001819	synonymous_variant	219285							g.chr7:92762801T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2484A>G	7.37:g.92762801T>C						SAMD9L_uc003umj.1_Silent_p.R828R|SAMD9L_uc003umi.1_Silent_p.R828R|SAMD9L_uc010lfb.1_Silent_p.R828R|SAMD9L_uc003umk.1_Silent_p.R828R|SAMD9L_uc010lfc.1_Silent_p.R828R|SAMD9L_uc010lfd.1_Silent_p.R828R|SAMD9L_uc011khx.1_Intron	p.R828R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3700	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		828					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2484A>G	CCDS34681.1																																																																																				0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		93	58	0	0	0	0	93	58				
HEPACAM2	253012	broad.mit.edu	37	7	92837946	92837946	+	Missense_Mutation	SNP	T	T	C	rs373381341		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:92837946T>C	ENST00000394468.2	-	4	1036	c.959A>G	c.(958-960)aAc>aGc	p.N320S	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.N343S|HEPACAM2_ENST00000492616.1_5'Flank|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.N308S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.N308S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	320	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GCCGGTTATGTTGTTGTAAGC	0.408																																						uc003umm.2		NA																	0				ovary(3)|breast(1)|kidney(1)	5						c.(958-960)AAC>AGC		HEPACAM family member 2 isoform 1		T	SER/ASN,SER/ASN	0,4406		0,0,2203	167.0	144.0	152.0		959,923	5.0	1.0	7		152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HEPACAM2	NM_001039372.1,NM_198151.1	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	320/463,308/451	92837946	1,13005	2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92837946T>C	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.959A>G	7.37:g.92837946T>C	ENSP00000377980:p.Asn320Ser					HEPACAM2_uc003uml.2_Missense_Mutation_p.N308S|HEPACAM2_uc010lff.2_Missense_Mutation_p.N308S|HEPACAM2_uc011khy.1_Missense_Mutation_p.N343S	p.N320S	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			4	982	-			320			Ig-like C2-type 2.|Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.959A>G	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999161	0.54147	0.0	1.16E-4	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.04	5.04	0.67666	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	N	0.24115	0.695	0.52099	D	0.999947	D;D;D;D	0.76494	0.992;0.999;0.983;0.978	D;D;P;D	0.85130	0.974;0.997;0.899;0.911	T	0.02257	-1.1187	10	0.02654	T	1	-20.3454	15.47	0.75434	0.0:0.0:0.0:1.0	.	343;308;320;308	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	S	320;308;308;343	ENSP00000377980:N320S;ENSP00000340532:N308S;ENSP00000389592:N308S;ENSP00000390204:N343S	ENSP00000340532:N308S	N	-	2	0	HEPACAM2	92675882	1.000000	0.71417	0.966000	0.40874	0.973000	0.67179	6.943000	0.75934	2.196000	0.70406	0.533000	0.62120	AAC		0.408	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		11	159	0	0	0	0	11	159				
TMEM130	222865	broad.mit.edu	37	7	98449123	98449123	+	Silent	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:98449123C>T	ENST00000416379.2	-	6	931	c.927G>A	c.(925-927)ggG>ggA	p.G309G	TMEM130_ENST00000546258.1_Silent_p.G290G|TMEM130_ENST00000450876.1_Silent_p.G225G|TMEM130_ENST00000345589.4_Silent_p.G207G|TMEM130_ENST00000339375.4_Silent_p.G309G			Q8N3G9	TM130_HUMAN	transmembrane protein 130	309						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGTAGTCCCCAGGGTCCC	0.592																																						uc003upo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(925-927)GGG>GGA		transmembrane protein 130 isoform a							154.0	112.0	126.0					7																	98449123		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98449123C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.927G>A	7.37:g.98449123C>T						TMEM130_uc011kiq.1_Silent_p.G290G|TMEM130_uc011kir.1_Silent_p.G309G|TMEM130_uc003upn.2_Silent_p.G207G	p.G309G	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1116	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		309			Extracellular (Potential).		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.927G>A	CCDS47650.1																																																																																				0.592	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		61	42	0	0	0	0	61	42				
MUC17	140453	broad.mit.edu	37	7	100681963	100681963	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:100681963T>C	ENST00000306151.4	+	3	7330	c.7266T>C	c.(7264-7266)gtT>gtC	p.V2422V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2422	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.512																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7264-7266)GTT>GTC		mucin 17 precursor							373.0	361.0	365.0					7																	100681963		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681963T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7266T>C	7.37:g.100681963T>C						MUC17_uc010lho.1_RNA	p.V2422V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7319	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2422			Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7266T>C	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	926	0	0	0	0	5	926				
C7orf60	154743	broad.mit.edu	37	7	112555359	112555359	+	Splice_Site	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:112555359A>G	ENST00000297145.4	-	2	468		c.e2+1		C7orf60_ENST00000485446.1_Splice_Site	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60								rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AAAAGTACTTACCTACAACAC	0.373																																						uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.e2+1		hypothetical protein LOC154743							151.0	141.0	144.0					7																	112555359		1886	4112	5998	SO:0001630	splice_region_variant	154743							g.chr7:112555359A>G		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.302+1T>C	7.37:g.112555359A>G						C7orf60_uc011kms.1_Splice_Site_p.S127_splice	p.S101_splice	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			2	429	-								Q8N3D0|Q96MV7	Splice_Site	SNP	ENST00000297145.4	37	c.302_splice	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469641	0.43839	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.4	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5649	0.56304	0.8608:0.1392:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C7orf60	112342595	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	8.455000	0.90355	0.953000	0.37825	0.482000	0.46254	.		0.373	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556	Intron	32	52	0	0	0	0	32	52				
ANKRD7	56311	broad.mit.edu	37	7	117874864	117874864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:117874864G>A	ENST00000265224.4	+	3	559	c.404G>A	c.(403-405)gGt>gAt	p.G135D	ANKRD7_ENST00000357099.4_Missense_Mutation_p.G155D|ANKRD7_ENST00000433239.1_Missense_Mutation_p.G82D|ANKRD7_ENST00000417525.1_Missense_Mutation_p.G82D|ANKRD7_ENST00000477532.1_3'UTR	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	135					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCTGTTTGTGGTCAAAGTTTG	0.333																																						uc003vji.2		NA																	0					0						c.(403-405)GGT>GAT		ankyrin repeat domain 7							192.0	174.0	179.0					7																	117874864		1854	4106	5960	SO:0001583	missense	56311				male gonad development			g.chr7:117874864G>A	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.404G>A	7.37:g.117874864G>A	ENSP00000265224:p.Gly135Asp						p.G135D	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			3	577	+			135			ANK 3.		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	c.404G>A	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241638	0.39598	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.64618	-0.11;-0.11;0.63;0.63	4.9	-2.34	0.06704	Ankyrin repeat-containing domain (3);	0.283114	0.25180	N	0.032540	T	0.35595	0.0937	N	0.21545	0.675	0.09310	N	1	P	0.36633	0.562	B	0.36378	0.223	T	0.19484	-1.0304	10	0.38643	T	0.18	-4.4773	0.7897	0.01055	0.3033:0.309:0.1907:0.197	.	135	Q92527	ANKR7_HUMAN	D	155;135;82;82	ENSP00000349612:G155D;ENSP00000265224:G135D;ENSP00000395595:G82D;ENSP00000388473:G82D	ENSP00000265224:G135D	G	+	2	0	ANKRD7	117662100	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.537000	0.23144	-0.316000	0.08690	-0.150000	0.13652	GGT		0.333	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		24	43	0	0	0	0	24	43				
PLXNA4	91584	broad.mit.edu	37	7	132192549	132192549	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:132192549G>C	ENST00000359827.3	-	2	1866	c.904C>G	c.(904-906)Cgc>Ggc	p.R302G	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R302G|PLXNA4_ENST00000378539.5_Missense_Mutation_p.R302G|PLXNA4_ENST00000423507.2_Missense_Mutation_p.R302G			Q9HCM2	PLXA4_HUMAN	plexin A4	302	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCCCACTGCGCTCACAGCCA	0.592																																						uc003vra.3		NA																	0				ovary(1)	1						c.(904-906)CGC>GGC		plexin A4 isoform 1							60.0	44.0	49.0					7																	132192549		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192549G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.904C>G	7.37:g.132192549G>C	ENSP00000352882:p.Arg302Gly					PLXNA4_uc003vrc.2_Missense_Mutation_p.R302G|PLXNA4_uc003vrb.2_Missense_Mutation_p.R302G	p.R302G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	1133	-			302			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.904C>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	9.559	1.117935	0.20877	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.72	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.125822	0.30227	U	0.010108	T	0.09423	0.0232	L	0.31664	0.95	0.34947	D	0.750868	B;P;B	0.39520	0.319;0.676;0.325	B;B;B	0.42798	0.188;0.398;0.129	T	0.32428	-0.9907	10	0.15066	T	0.55	.	9.5553	0.39334	0.0:0.1158:0.6114:0.2729	.	302;302;302	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	G	302	ENSP00000323194:R302G;ENSP00000352882:R302G;ENSP00000392772:R302G;ENSP00000367800:R302G	ENSP00000323194:R302G	R	-	1	0	PLXNA4	131843089	1.000000	0.71417	0.972000	0.41901	0.826000	0.46750	3.861000	0.56002	1.403000	0.46800	0.655000	0.94253	CGC		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		11	41	0	0	0	0	11	41				
MGAM	8972	broad.mit.edu	37	7	141794549	141794549	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:141794549G>T	ENST00000549489.2	+	40	4751	c.4656G>T	c.(4654-4656)acG>acT	p.T1552T	MGAM_ENST00000475668.2_Silent_p.T2448T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1552	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTCAGACGGGAGCAGATA	0.473																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(4654-4656)ACG>ACT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						59.0	56.0	57.0					7																	141794549		1844	4098	5942	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141794549G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4656G>T	7.37:g.141794549G>T							p.T1552T	NM_004668	NP_004659	O43451	MGA_HUMAN			40	4710	+	Melanoma(164;0.0272)		1552			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.4656G>T	CCDS47727.1																																																																																				0.473	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	46	1	0	1.07e-07	2.41e-07	8	46				
KCNH2	3757	broad.mit.edu	37	7	150647315	150647315	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:150647315T>A	ENST00000262186.5	-	9	2740	c.2339A>T	c.(2338-2340)tAc>tTc	p.Y780F	KCNH2_ENST00000392968.2_Missense_Mutation_p.Y684F|KCNH2_ENST00000430723.3_Missense_Mutation_p.Y780F|KCNH2_ENST00000330883.4_Missense_Mutation_p.Y440F	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	780					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GGAGATGAAGTACAGGGCGGT	0.652																																					GBM(137;110 1844 13671 20123 45161)	uc003wic.2		NA																	0				skin(3)|ovary(1)	4						c.(2338-2340)TAC>TTC		voltage-gated potassium channel, subfamily H,	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						85.0	70.0	75.0					7																	150647315		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150647315T>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2339A>T	7.37:g.150647315T>A	ENSP00000262186:p.Tyr780Phe					KCNH2_uc003wib.2_Missense_Mutation_p.Y440F|KCNH2_uc011kux.1_Missense_Mutation_p.Y684F|KCNH2_uc003wid.2_Missense_Mutation_p.Y440F|KCNH2_uc003wie.2_Missense_Mutation_p.Y780F	p.Y780F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	2352	-	all_neural(206;0.219)		780			Cytoplasmic (Potential).|cNMP.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.2339A>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.934005	0.92458	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000430723	D;D;D;D	0.98028	-3.69;-3.69;-3.69;-4.67	4.84	4.84	0.62591	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	L	0.45422	1.42	0.50171	D	0.999855	D;D;B;P;P	0.76494	0.999;0.957;0.101;0.887;0.485	D;P;B;P;B	0.79108	0.992;0.828;0.118;0.775;0.398	D	0.98041	1.0382	10	0.59425	D	0.04	.	12.3962	0.55386	0.0:0.0:0.0:1.0	.	684;780;440;780;440	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	F	440;684;780;780	ENSP00000328531:Y440F;ENSP00000376695:Y684F;ENSP00000262186:Y780F;ENSP00000387657:Y780F	ENSP00000262186:Y780F	Y	-	2	0	KCNH2	150278248	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.035000	0.88872	1.815000	0.52974	0.254000	0.18369	TAC		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		12	128	0	0	0	0	12	128				
SGCZ	137868	broad.mit.edu	37	8	13948034	13948034	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:13948034C>G	ENST00000382080.1	-	8	1572	c.857G>C	c.(856-858)tGc>tCc	p.C286S	SGCZ_ENST00000421524.2_Missense_Mutation_p.C239S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	273					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.C286F(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCCATTGGGGCAGACGCAGAG	0.498																																						uc003wwq.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(856-858)TGC>TCC		sarcoglycan zeta							167.0	150.0	156.0					8																	13948034		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13948034C>G	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.857G>C	8.37:g.13948034C>G	ENSP00000371512:p.Cys286Ser					SGCZ_uc010lss.2_Missense_Mutation_p.C239S	p.C286S	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	8	1517	-			273			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.857G>C	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683990	0.68157	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.97378	-4.36;-4.36	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	M	0.73430	2.235	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	D	0.98968	1.0800	10	0.66056	D	0.02	.	18.7556	0.91832	0.0:1.0:0.0:0.0	.	239;286	Q08AT0;Q96LD1-2	.;.	S	286;239	ENSP00000371512:C286S;ENSP00000405224:C239S	ENSP00000371512:C286S	C	-	2	0	SGCZ	13992405	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	TGC		0.498	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		15	69	0	0	0	0	15	69				
STC1	6781	broad.mit.edu	37	8	23702425	23702425	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:23702425T>G	ENST00000290271.2	-	4	885	c.602A>C	c.(601-603)cAc>cCc	p.H201P	STC1_ENST00000524323.1_Missense_Mutation_p.H132P	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	201					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTGGGCACAGTGGTCTGTCTG	0.542																																						uc003xdw.1		NA																	0				skin(3)|upper_aerodigestive_tract(1)	4						c.(601-603)CAC>CCC		stanniocalcin 1 precursor							192.0	164.0	173.0					8																	23702425		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23702425T>G		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.602A>C	8.37:g.23702425T>G	ENSP00000290271:p.His201Pro						p.H201P	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	886	-		Prostate(55;0.055)|Breast(100;0.116)	201					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.602A>C	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	T	9.549	1.115546	0.20795	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	6.16	6.16	0.99307	.	0.184216	0.64402	D	0.000013	T	0.35219	0.0924	N	0.03324	-0.35	0.38614	D	0.950985	B	0.06786	0.001	B	0.06405	0.002	T	0.31558	-0.9939	9	0.21540	T	0.41	-17.9215	15.6301	0.76899	0.0:0.0:0.0:1.0	.	201	P52823	STC1_HUMAN	P	201;132;132	.	ENSP00000290271:H201P	H	-	2	0	STC1	23758370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.436000	0.59948	2.367000	0.80283	0.528000	0.53228	CAC		0.542	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			13	48	0	0	0	0	13	48				
ADAM2	2515	broad.mit.edu	37	8	39682379	39682379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:39682379T>C	ENST00000265708.4	-	4	329	c.226A>G	c.(226-228)Agt>Ggt	p.S76G	ADAM2_ENST00000379853.2_Missense_Mutation_p.S76G|ADAM2_ENST00000347580.4_Missense_Mutation_p.S76G|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.S76G	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	76					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTGTGCCACTATAACTGTAA	0.274																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(226-228)AGT>GGT		ADAM metallopeptidase domain 2 proprotein							65.0	66.0	66.0					8																	39682379		2202	4296	6498	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39682379T>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.226A>G	8.37:g.39682379T>C	ENSP00000265708:p.Ser76Gly					ADAM2_uc003xnk.2_Missense_Mutation_p.S76G|ADAM2_uc011lck.1_Missense_Mutation_p.S76G|ADAM2_uc003xnl.2_Missense_Mutation_p.S76G	p.S76G	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	4	301	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	76					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.226A>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	7.069	0.567952	0.13560	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	5.46	3.19	0.36642	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.04861	0.0131	L	0.28556	0.865	0.09310	N	1	B;B;B;B	0.09022	0.001;0.002;0.001;0.001	B;B;B;B	0.16722	0.009;0.007;0.009;0.016	T	0.45396	-0.9264	8	.	.	.	.	5.1359	0.14934	0.0:0.2965:0.0:0.7035	.	76;76;76;76	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	G	76	ENSP00000343854:S76G;ENSP00000369182:S76G;ENSP00000265708:S76G;ENSP00000429352:S76G	.	S	-	1	0	ADAM2	39801536	0.366000	0.25014	0.332000	0.25469	0.046000	0.14306	0.536000	0.23129	0.428000	0.26173	0.477000	0.44152	AGT		0.274	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		8	30	0	0	0	0	8	30				
CHRNB3	1142	broad.mit.edu	37	8	42563960	42563960	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:42563960T>C	ENST00000289957.2	+	2	281	c.153T>C	c.(151-153)aaT>aaC	p.N51N	RP11-412B14.1_ENST00000527318.1_RNA	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	51					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TACATTCTAATGACACCATAA	0.408																																						uc003xpi.1		NA																	0				ovary(1)	1						c.(151-153)AAT>AAC		cholinergic receptor, nicotinic, beta							116.0	115.0	115.0					8																	42563960		2203	4300	6503	SO:0001819	synonymous_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42563960T>C	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.153T>C	8.37:g.42563960T>C							p.N51N	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	281	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	51			Extracellular (Potential).		Q15827	Silent	SNP	ENST00000289957.2	37	c.153T>C	CCDS6134.1																																																																																				0.408	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			32	56	0	0	0	0	32	56				
ASPH	444	broad.mit.edu	37	8	62438587	62438587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:62438587C>T	ENST00000379454.4	-	22	2036	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	ASPH_ENST00000541428.1_Missense_Mutation_p.E588K	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	617					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCAGGTTTTCATCCTCAGGC	0.483																																						uc003xuj.2		NA																	0				ovary(3)	3						c.(1849-1851)GAA>AAA		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						137.0	123.0	128.0					8																	62438587		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62438587C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1849G>A	8.37:g.62438587C>T	ENSP00000368767:p.Glu617Lys					ASPH_uc011leg.1_Missense_Mutation_p.E588K	p.E617K	NM_004318	NP_004309	Q12797	ASPH_HUMAN			22	2118	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	617			Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1849G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168957	0.94768	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.47177	0.85;0.85	5.42	5.42	0.78866	.	0.059283	0.64402	D	0.000004	T	0.69842	0.3156	M	0.71871	2.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.72194	-0.4364	10	0.66056	D	0.02	-28.9374	19.2165	0.93780	0.0:1.0:0.0:0.0	.	588;617	F5H667;Q12797	.;ASPH_HUMAN	K	588;617	ENSP00000437864:E588K;ENSP00000368767:E617K	ENSP00000368767:E617K	E	-	1	0	ASPH	62601141	1.000000	0.71417	0.996000	0.52242	0.790000	0.44656	7.247000	0.78257	2.524000	0.85096	0.650000	0.86243	GAA		0.483	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		47	113	0	0	0	0	47	113				
SLC7A13	157724	broad.mit.edu	37	8	87242004	87242004	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:87242004A>G	ENST00000297524.3	-	1	606	c.503T>C	c.(502-504)gTg>gCg	p.V168A	SLC7A13_ENST00000419776.2_Missense_Mutation_p.V168A|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	168						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAGTATGGACACTTTCAGCAC	0.418																																						uc003ydq.1		NA																	0				central_nervous_system(1)	1						c.(502-504)GTG>GCG		solute carrier family 7, (cationic amino acid							142.0	124.0	130.0					8																	87242004		2203	4300	6503	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242004A>G	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.503T>C	8.37:g.87242004A>G	ENSP00000297524:p.Val168Ala					SLC7A13_uc003ydr.1_Missense_Mutation_p.V168A	p.V168A	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			1	601	-			168			Helical; Name=5; (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.503T>C	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	A	8.076	0.771307	0.16051	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90620	-2.7;-2.7	4.87	2.55	0.30701	Amino acid permease domain (1);	0.585491	0.17170	N	0.184310	D	0.90215	0.6941	M	0.71036	2.16	0.09310	N	0.999999	P;P	0.41524	0.753;0.485	P;B	0.46299	0.511;0.248	D	0.83591	0.0123	10	0.87932	D	0	.	7.4166	0.27048	0.8149:0.0:0.1851:0.0	.	168;168	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	A	168	ENSP00000297524:V168A;ENSP00000410982:V168A	ENSP00000297524:V168A	V	-	2	0	SLC7A13	87311120	0.813000	0.29090	0.433000	0.26760	0.041000	0.13682	1.744000	0.38268	1.007000	0.39238	0.496000	0.49642	GTG		0.418	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		17	72	0	0	0	0	17	72				
CSMD3	114788	broad.mit.edu	37	8	113301698	113301698	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:113301698G>T	ENST00000297405.5	-	57	9288	c.9044C>A	c.(9043-9045)tCt>tAt	p.S3015Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2975Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2846Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2945Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3015	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2975F(1)|p.S3015F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGAACAGTAGACCCAAAAGT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9043-9045)TCT>TAT		CUB and Sushi multiple domains 3 isoform 1							86.0	76.0	80.0					8																	113301698		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301698G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9044C>A	8.37:g.113301698G>T	ENSP00000297405:p.Ser3015Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S2217Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S2975Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S2846Y	p.S3015Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9203	-			3015			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9044C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439423	0.96168	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.85969	0.5821	M	0.89968	3.075	0.58432	D	0.999997	P;D;D	0.76494	0.935;0.999;0.98	P;D;P	0.77004	0.674;0.989;0.815	D	0.84896	0.0839	10	0.41790	T	0.15	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2846;3015;2975	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2975;3015;2285;2846;2945	ENSP00000345799:S2975Y;ENSP00000297405:S3015Y;ENSP00000341558:S2285Y;ENSP00000412263:S2846Y;ENSP00000343124:S2945Y	ENSP00000297405:S3015Y	S	-	2	0	CSMD3	113370874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	TCT		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	67	1	0	6.33e-15	1.56e-14	20	67				
ASAP1	50807	broad.mit.edu	37	8	131070203	131070203	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:131070203C>A	ENST00000518721.1	-	29	3539	c.3312G>T	c.(3310-3312)tgG>tgT	p.W1104C	ASAP1_ENST00000357668.1_Missense_Mutation_p.W1104C	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	1104	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TACGTACCCACCACTCCTGGT	0.512																																						uc003yta.1		NA																	0				ovary(4)	4						c.(3310-3312)TGG>TGT		development and differentiation enhancing factor							321.0	243.0	270.0					8																	131070203		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131070203C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.3312G>T	8.37:g.131070203C>A	ENSP00000429900:p.Trp1104Cys					ASAP1_uc003ysz.1_Missense_Mutation_p.W915C|ASAP1_uc011liw.1_Missense_Mutation_p.W1097C	p.W1104C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			28	3340	-			1104			SH3.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.3312G>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.532049|4.532049	0.85812|0.85812	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|D;D	.|0.99167	.|-5.51;-5.51	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Src homology-3 domain (4);	.|0.128367	.|0.56097	.|D	.|0.000025	D|D	0.99609|0.99609	0.9858|0.9858	H|H	0.97896|0.97896	4.1|4.1	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.97623|0.97623	1.0137|1.0137	5|10	.|0.87932	.|D	.|0	.|.	17.8947|17.8947	0.88883|0.88883	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1104;1104;1107	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	L|C	925;461|1107;1104;1104	.|ENSP00000350297:W1104C;ENSP00000429900:W1104C	.|ENSP00000344591:W1107C	V|W	-|-	1|3	0|0	ASAP1|ASAP1	131139385|131139385	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.696000|7.696000	0.84270|0.84270	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GTG|TGG		0.512	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		68	94	1	0	6.21e-33	1.58e-32	68	94				
COL22A1	169044	broad.mit.edu	37	8	139728521	139728521	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr8:139728521G>T	ENST00000303045.6	-	29	2858	c.2412C>A	c.(2410-2412)ggC>ggA	p.G804G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G804G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	804	Collagen-like 6.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCTGGGAGGCCTGCTTCTC	0.587										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(2410-2412)GGC>GGA		collagen, type XXII, alpha 1							37.0	35.0	36.0					8																	139728521		2203	4299	6502	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139728521G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2412C>A	8.37:g.139728521G>T		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Silent_p.G104G	p.G804G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		29	2859	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		804			Pro-rich.|Gly-rich.|Collagen-like 6.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.2412C>A	CCDS6376.1																																																																																				0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		3	12	1	0	6.4e-05	0.0001341	3	12				
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1380	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(13)|Deletion - Frameshift(5)|Substitution - coding silent(2)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|upper_aerodigestive_tract(52)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(328-330)TGG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	20.0	20.0					9																	21971029		2198	4294	6492	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971029C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.329G>A	9.37:g.21971029C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	541	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.329G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223773	0.97390	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.7138	7.5355	0.27708	0.2896:0.6341:0.0:0.0762	.	.	.	.	X	110	.	ENSP00000307101:W110X	W	-	2	0	CDKN2A	21961029	0.001000	0.12720	0.995000	0.50966	0.918000	0.54935	0.120000	0.15647	2.808000	0.96608	0.655000	0.94253	TGG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		42	19	0	0	0	0	42	19				
DNAI1	27019	broad.mit.edu	37	9	34490414	34490414	+	Silent	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:34490414C>A	ENST00000242317.4	+	7	720	c.549C>A	c.(547-549)ccC>ccA	p.P183P	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	183					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTAAGCAGCCCAAGGAGAGAA	0.498									Kartagener syndrome																													uc003zum.2		NA																	0					0						c.(547-549)CCC>CCA		dynein, axonemal, intermediate chain 1							172.0	183.0	179.0					9																	34490414		2203	4300	6503	SO:0001819	synonymous_variant	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34490414C>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.549C>A	9.37:g.34490414C>A							p.P183P	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	7	742	+	all_epithelial(49;0.244)		183					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.549C>A	CCDS6557.1																																																																																				0.498	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			230	120	1	0	5.96e-76	1.54e-75	230	120				
TJP2	9414	broad.mit.edu	37	9	71845073	71845073	+	Silent	SNP	G	G	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:71845073G>C	ENST00000377245.4	+	11	1804	c.1596G>C	c.(1594-1596)ggG>ggC	p.G532G	TJP2_ENST00000539225.1_Silent_p.G563G|TJP2_ENST00000453658.2_Silent_p.G509G|TJP2_ENST00000535702.1_Silent_p.G536G|TJP2_ENST00000348208.4_Silent_p.G532G|TJP2_ENST00000265384.7_Silent_p.G532G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	532	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATGATGTCGGGATATTTGTTG	0.517																																						uc004ahe.2		NA																	0					0						c.(1594-1596)GGG>GGC		tight junction protein 2 (zona occludens 2)							86.0	85.0	86.0					9																	71845073		2203	4300	6503	SO:0001819	synonymous_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71845073G>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1596G>C	9.37:g.71845073G>C						TJP2_uc011lrs.1_Silent_p.G509G|TJP2_uc011lrt.1_Silent_p.G509G|TJP2_uc004ahd.2_Silent_p.G532G|TJP2_uc004ahf.2_Silent_p.G532G|TJP2_uc011lru.1_Silent_p.G536G|TJP2_uc011lrv.1_Silent_p.G554G	p.G532G	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			11	1796	+			532			PDZ 3.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.1596G>C	CCDS6627.1																																																																																				0.517	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		40	67	0	0	0	0	40	67				
TJP2	9414	broad.mit.edu	37	9	71866155	71866155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:71866155G>T	ENST00000377245.4	+	21	3404	c.3196G>T	c.(3196-3198)Gag>Tag	p.E1066*	TJP2_ENST00000539225.1_Nonsense_Mutation_p.E1097*|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Nonsense_Mutation_p.E1033*|TJP2_ENST00000348208.4_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1066					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGAGGTGGGAGAGAGCAGTGA	0.502																																						uc004ahe.2		NA																	0					0						c.(3196-3198)GAG>TAG		tight junction protein 2 (zona occludens 2)							79.0	74.0	76.0					9																	71866155		2203	4300	6503	SO:0001587	stop_gained	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71866155G>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3196G>T	9.37:g.71866155G>T	ENSP00000366453:p.Glu1066*					TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Nonsense_Mutation_p.E1033*|TJP2_uc011lrv.1_Nonsense_Mutation_p.E1088*|TJP2_uc010mom.1_Intron	p.E1066*	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			21	3396	+			1066					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Nonsense_Mutation	SNP	ENST00000377245.4	37	c.3196G>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	40	8.437659	0.98810	.	.	ENSG00000119139	ENST00000377245;ENST00000535702;ENST00000539225	.	.	.	6.17	6.17	0.99709	.	0.241209	0.33272	N	0.005088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1066;1033;1097	.	ENSP00000366453:E1066X	E	+	1	0	TJP2	71055975	1.000000	0.71417	0.938000	0.37757	0.416000	0.31233	6.496000	0.73670	2.941000	0.99782	0.655000	0.94253	GAG		0.502	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		17	35	1	0	8.6e-14	2.1e-13	17	35				
TRPM6	140803	broad.mit.edu	37	9	77436731	77436731	+	Silent	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:77436731G>T	ENST00000360774.1	-	8	1101	c.864C>A	c.(862-864)gtC>gtA	p.V288V	TRPM6_ENST00000376864.4_Silent_p.V288V|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.V283V|TRPM6_ENST00000451710.3_Silent_p.V288V|TRPM6_ENST00000361255.3_Silent_p.V283V|TRPM6_ENST00000376871.3_Silent_p.V288V|TRPM6_ENST00000376872.3_Silent_p.V288V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	288					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCAGCCCCACGACCGGCACGC	0.572																																						uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(862-864)GTC>GTA		transient receptor potential cation channel,							125.0	91.0	103.0					9																	77436731		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77436731G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.864C>A	9.37:g.77436731G>T						TRPM6_uc004ajk.1_Silent_p.V283V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.V288V|TRPM6_uc010mpd.1_Silent_p.V288V|TRPM6_uc010mpe.1_Intron	p.V288V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			8	1102	-			288			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.864C>A	CCDS6647.1																																																																																				0.572	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		19	29	1	0	5.04e-11	1.2e-10	19	29				
PTPN3	5774	broad.mit.edu	37	9	112189263	112189263	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:112189263T>G	ENST00000374541.2	-	12	1072	c.968A>C	c.(967-969)cAg>cCg	p.Q323P	PTPN3_ENST00000446349.1_Missense_Mutation_p.Q192P|PTPN3_ENST00000412145.1_Missense_Mutation_p.Q192P|PTPN3_ENST00000262539.3_Missense_Mutation_p.Q214P	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	323					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGTCCAGTACTGAGACAGAAC	0.438																																						uc004bed.2		NA																	0				ovary(3)	3						c.(967-969)CAG>CCG		protein tyrosine phosphatase, non-receptor type							152.0	131.0	138.0					9																	112189263		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112189263T>G		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.968A>C	9.37:g.112189263T>G	ENSP00000363667:p.Gln323Pro					PTPN3_uc004beb.2_Missense_Mutation_p.Q192P|PTPN3_uc004bec.2_Missense_Mutation_p.Q192P|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.Q323P|PTPN3_uc011lwh.1_Missense_Mutation_p.Q214P|PTPN3_uc011lwe.1_Missense_Mutation_p.Q36P|PTPN3_uc011lwf.1_Missense_Mutation_p.Q36P	p.Q323P	NM_002829	NP_002820	P26045	PTN3_HUMAN			12	1080	-			323					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.968A>C	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880515	0.72294	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.76	5.76	0.90799	.	0.232964	0.45361	D	0.000379	T	0.76506	0.3997	L	0.29908	0.895	0.80722	D	1	D;P;P	0.58970	0.984;0.885;0.815	P;B;B	0.47470	0.548;0.328;0.315	T	0.76830	-0.2814	10	0.37606	T	0.19	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	214;323;323	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	P	323;192;192;323;214	ENSP00000416654:Q192P;ENSP00000395384:Q192P;ENSP00000363667:Q323P;ENSP00000262539:Q214P	ENSP00000262539:Q214P	Q	-	2	0	PTPN3	111229084	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.091000	0.76923	2.191000	0.70037	0.533000	0.62120	CAG		0.438	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			37	43	0	0	0	0	37	43				
PTGS1	5742	broad.mit.edu	37	9	125154726	125154726	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:125154726G>T	ENST00000362012.2	+	11	1708	c.1703G>T	c.(1702-1704)tGc>tTc	p.C568F	PTGS1_ENST00000373698.5_Missense_Mutation_p.C459F|PTGS1_ENST00000223423.4_Missense_Mutation_p.C531F|PTGS1_ENST00000540753.1_Missense_Mutation_p.C506F	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	568					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAGCTGGTCTGCCTCAACACC	0.577																																						uc004bmg.1		NA																	0				ovary(1)|skin(1)	2						c.(1702-1704)TGC>TTC		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						114.0	102.0	106.0					9																	125154726		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154726G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1703G>T	9.37:g.125154726G>T	ENSP00000354612:p.Cys568Phe					PTGS1_uc011lys.1_Missense_Mutation_p.C506F|PTGS1_uc010mwb.1_Missense_Mutation_p.C422F|PTGS1_uc004bmf.1_Missense_Mutation_p.C531F|PTGS1_uc004bmh.1_Missense_Mutation_p.C459F|PTGS1_uc011lyt.1_Missense_Mutation_p.C459F	p.C568F	NM_000962	NP_000953	P23219	PGH1_HUMAN			11	1838	+			568					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.1703G>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767729	0.90020	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.86640	0.5981	M	0.87617	2.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.88773	0.3265	10	0.87932	D	0	-34.7313	18.2032	0.89846	0.0:0.0:1.0:0.0	.	506;568;531	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	F	506;568;531;459	ENSP00000437709:C506F;ENSP00000354612:C568F;ENSP00000223423:C531F;ENSP00000362802:C459F	ENSP00000223423:C531F	C	+	2	0	PTGS1	124194547	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.539000	0.85634	0.655000	0.94253	TGC		0.577	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			40	65	1	0	1.5e-21	3.77e-21	40	65				
PKN3	29941	broad.mit.edu	37	9	131482522	131482522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:131482522A>G	ENST00000291906.4	+	21	2810	c.2417A>G	c.(2416-2418)gAg>gGg	p.E806G	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	806	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGGGCAGGTGAGCAGGATGCC	0.642																																						uc004bvw.2		NA																	0				stomach(2)|lung(2)	4						c.(2416-2418)GAG>GGG		protein kinase PKNbeta							62.0	66.0	64.0					9																	131482522		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131482522A>G	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2417A>G	9.37:g.131482522A>G	ENSP00000291906:p.Glu806Gly					PKN3_uc010myh.2_Intron|PKN3_uc011mbk.1_Missense_Mutation_p.E356G	p.E806G	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			21	2810	+			806			Protein kinase.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.2417A>G	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.954026	0.53293	.	.	ENSG00000160447	ENST00000291906	T	0.25085	1.82	4.97	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.21921	0.0528	L	0.57130	1.785	0.39244	D	0.963907	P	0.36354	0.549	B	0.34536	0.185	T	0.14896	-1.0456	9	0.62326	D	0.03	.	4.6652	0.12662	0.7388:0.0:0.094:0.1673	.	806	Q6P5Z2	PKN3_HUMAN	G	806	ENSP00000291906:E806G	ENSP00000291906:E806G	E	+	2	0	PKN3	130522343	0.974000	0.33945	0.498000	0.27564	0.974000	0.67602	3.000000	0.49481	1.861000	0.53984	0.379000	0.24179	GAG		0.642	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		21	20	0	0	0	0	21	20				
ABL1	25	broad.mit.edu	37	9	133738362	133738362	+	Silent	SNP	G	G	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr9:133738362G>A	ENST00000318560.5	+	4	1143	c.762G>A	c.(760-762)ggG>ggA	p.G254G		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCCAGTACGGGGAGGTGTACG	0.617			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2		NA		Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(760-762)GGG>GGA		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						82.0	81.0	82.0					9																	133738362		2203	4300	6503	SO:0001819	synonymous_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133738362G>A	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.762G>A	9.37:g.133738362G>A						ABL1_uc004bzv.2_Silent_p.G273G|uc004bzx.1_5'Flank	p.G254G	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	4	765	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	254			Protein kinase.|ATP.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	c.762G>A	CCDS35166.1																																																																																				0.617	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		10	40	0	0	0	0	10	40				
CYBB	1536	broad.mit.edu	37	X	37651299	37651299	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:37651299T>C	ENST00000378588.4	+	4	391	c.324T>C	c.(322-324)atT>atC	p.I108I	CYBB_ENST00000545017.1_Silent_p.I76I|CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	108	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CATGGATGATTGCACTTCACT	0.383																																						uc004ddr.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(322-324)ATT>ATC		cytochrome b-245 beta polypeptide							106.0	95.0	99.0					X																	37651299		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37651299T>C	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.324T>C	X.37:g.37651299T>C						CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.I76I|CYBB_uc011mkg.1_5'UTR	p.I108I	NM_000397	NP_000388	P04839	CY24B_HUMAN			4	385	+			108			Ferric oxidoreductase.|Helical; (Potential).		A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.324T>C	CCDS14242.1																																																																																				0.383	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			5	12	0	0	0	0	5	12				
RPS6KA6	27330	broad.mit.edu	37	X	83411200	83411200	+	Splice_Site	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:83411200C>A	ENST00000262752.2	-	3	149		c.e3-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTCCTTCATCCTGTAAAAAGA	0.358																																						uc004eej.1		NA																	0				lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.e3-1		ribosomal protein S6 kinase polypeptide 6							66.0	55.0	59.0					X																	83411200		2202	4299	6501	SO:0001630	splice_region_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83411200C>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.142-1G>T	X.37:g.83411200C>A						RPS6KA6_uc011mqt.1_Splice_Site_p.D48_splice|RPS6KA6_uc011mqu.1_Splice_Site|RPS6KA6_uc010nmo.1_Splice_Site	p.D48_splice	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			3	219	-								B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Splice_Site	SNP	ENST00000262752.2	37	c.142_splice	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082903	0.55861	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	5.12	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8732	0.46896	0.0:0.9031:0.0:0.0969	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA6	83297856	1.000000	0.71417	0.973000	0.42090	0.851000	0.48451	5.205000	0.65186	0.896000	0.36366	0.513000	0.50165	.		0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	Intron	5	6	1	0	0.00116845	0.00233152	5	6				
TGIF2LX	90316	broad.mit.edu	37	X	89177580	89177580	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:89177580C>A	ENST00000561129.2	+	1	626	c.496C>A	c.(496-498)Cag>Aag	p.Q166K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.Q166K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCCAAAGGGCCAGATGTCAAG	0.592																																						uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(496-498)CAG>AAG		TGFB-induced factor homeobox 2-like, X-linked							34.0	39.0	37.0					X																	89177580		2203	4296	6499	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177580C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.496C>A	X.37:g.89177580C>A	ENSP00000453704:p.Gln166Lys						p.Q166K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	545	+			166					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.496C>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	5.639	0.302657	0.10678	.	.	ENSG00000153779	ENST00000283891	T	0.64438	-0.1	2.8	0.775	0.18527	.	.	.	.	.	T	0.54062	0.1835	M	0.66506	2.035	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.42616	-0.9441	8	.	.	.	-3.7071	6.4151	0.21712	0.5261:0.4739:0.0:0.0	.	166	Q8IUE1	TF2LX_HUMAN	K	166	ENSP00000355119:Q166K	.	Q	+	1	0	TGIF2LX	89064236	0.080000	0.21391	0.000000	0.03702	0.009000	0.06853	1.156000	0.31712	0.073000	0.16731	0.506000	0.49869	CAG		0.592	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		11	21	1	0	6.4e-05	0.0001341	11	21				
RBM41	55285	broad.mit.edu	37	X	106312633	106312633	+	Splice_Site	SNP	C	C	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:106312633C>G	ENST00000372479.3	-	6	958		c.e6-1		RBM41_ENST00000372487.1_Splice_Site	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41								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						GGTATAATACCTAAAACAAAT	0.408																																						uc004emz.2		NA																	0				ovary(1)	1						c.e6-1		RNA binding motif protein 41							86.0	83.0	84.0					X																	106312633		2203	4300	6503	SO:0001630	splice_region_variant	55285						nucleotide binding|RNA binding	g.chrX:106312633C>G	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.928-1G>C	X.37:g.106312633C>G						RBM41_uc004emy.1_Splice_Site_p.V310_splice	p.V310_splice	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN			6	959	-								Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Splice_Site	SNP	ENST00000372479.3	37	c.928_splice	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462516	0.43736	.	.	ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000434854	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8875	0.58053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM41	106199289	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.676000	0.68131	2.441000	0.82636	0.600000	0.82982	.		0.408	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301	Intron	37	65	0	0	0	0	37	65				
DCX	1641	broad.mit.edu	37	X	110576307	110576307	+	Silent	SNP	A	A	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:110576307A>T	ENST00000338081.3	-	4	1194	c.1023T>A	c.(1021-1023)gcT>gcA	p.A341A	DCX_ENST00000356915.2_Silent_p.A260A|DCX_ENST00000356220.3_Silent_p.A260A|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Silent_p.A260A|DCX_ENST00000371993.2_Silent_p.A260A	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	341	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AATCATCCTGAGCATAGCGAA	0.393																																						uc004epd.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(1021-1023)GCT>GCA		doublecortin isoform a							139.0	102.0	114.0					X																	110576307		2203	4300	6503	SO:0001819	synonymous_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110576307A>T	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1023T>A	X.37:g.110576307A>T						DCX_uc011msv.1_Silent_p.A341A|DCX_uc004epe.2_Silent_p.A260A|DCX_uc004epf.2_Silent_p.A260A|DCX_uc004epg.2_Silent_p.A260A	p.A341A	NM_000555	NP_000546	O43602	DCX_HUMAN			4	1195	-			341			Doublecortin 2.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Silent	SNP	ENST00000338081.3	37	c.1023T>A	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.591319	0.28357	.	.	ENSG00000077279	ENST00000358070	.	.	.	5.44	-1.47	0.08772	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	.	1.572	0.02617	0.1728:0.1113:0.3005:0.4154	.	.	.	.	H	333	.	.	L	-	2	0	DCX	110462963	0.986000	0.35501	0.994000	0.49952	0.969000	0.65631	0.167000	0.16602	-0.340000	0.08388	0.356000	0.21956	CTC		0.393	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		8	5	0	0	0	0	8	5				
ATP1B4	23439	broad.mit.edu	37	X	119509289	119509289	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:119509289C>A	ENST00000218008.3	+	5	682	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.Q166K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.Q205K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	209					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GTACTTCATCCAAGATGGCAA	0.458																																						uc004esr.2		NA																	0				ovary(1)|skin(1)	2						c.(625-627)CAA>AAA		ATPase, (Na+)/K+ transporting, beta 4							141.0	125.0	131.0					X																	119509289		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119509289C>A	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.625C>A	X.37:g.119509289C>A	ENSP00000218008:p.Gln209Lys					ATP1B4_uc004esq.2_Missense_Mutation_p.Q205K|ATP1B4_uc011mtx.1_Missense_Mutation_p.Q174K|ATP1B4_uc011mty.1_Missense_Mutation_p.Q166K	p.Q209K	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			5	709	+			209			Perinuclear space (Potential).		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.625C>A	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275436	0.59649	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.28454	1.61;1.61;1.61	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62146	0.2404	M	0.86420	2.815	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.83275	0.996;0.98;0.996;0.994	T	0.66889	-0.5809	10	0.48119	T	0.1	-10.5002	17.3021	0.87185	0.0:1.0:0.0:0.0	.	166;174;209;205	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	K	209;205;166	ENSP00000218008:Q209K;ENSP00000355346:Q205K;ENSP00000443334:Q166K	ENSP00000218008:Q209K	Q	+	1	0	ATP1B4	119393317	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	7.217000	0.77982	2.297000	0.77311	0.600000	0.82982	CAA		0.458	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		109	34	1	0	2.34e-34	6.01e-34	109	34				
BCORL1	63035	broad.mit.edu	37	X	129154964	129154964	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:129154964G>T	ENST00000218147.7	+	5	3643	c.3446G>T	c.(3445-3447)cGg>cTg	p.R1149L	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1149L|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1149L|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1149L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1149					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCACAGTGCCGGAAGCTGCCC	0.552																																						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(3445-3447)CGG>CTG		BCL6 co-repressor-like 1							29.0	32.0	31.0					X																	129154964		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129154964G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3446G>T	X.37:g.129154964G>T	ENSP00000218147:p.Arg1149Leu					BCORL1_uc010nrd.1_Missense_Mutation_p.R1051L	p.R1149L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			5	3560	+			1149					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3446G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896823	0.52121	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.53640	0.61;0.99;0.8;0.61;1.07	6.17	5.3	0.74995	.	0.000000	0.33591	N	0.004756	T	0.51686	0.1689	L	0.29908	0.895	0.33525	D	0.592837	D;D	0.69078	0.997;0.992	P;P	0.61201	0.885;0.758	T	0.62996	-0.6735	10	0.54805	T	0.06	-16.2064	11.6884	0.51501	0.1423:0.0:0.8577:0.0	.	1149;1149	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	1149;1149;1149;1149;749	ENSP00000218147:R1149L;ENSP00000307541:R1149L;ENSP00000352253:R1149L;ENSP00000437775:R1149L;ENSP00000399483:R749L	ENSP00000218147:R1149L	R	+	2	0	BCORL1	128982645	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	2.545000	0.45769	2.618000	0.88619	0.600000	0.82982	CGG		0.552	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		41	16	1	0	8.01e-26	2.03e-25	41	16				
IGSF1	3547	broad.mit.edu	37	X	130408088	130408088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:130408088C>A	ENST00000361420.3	-	19	3923	c.3844G>T	c.(3844-3846)Gag>Tag	p.E1282*	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E1287*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E1273*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.E1273*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1282					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTCTTCCACTCTATGGCTAGC	0.502																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3844-3846)GAG>TAG		immunoglobulin superfamily, member 1 isoform 1							237.0	211.0	220.0					X																	130408088		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130408088C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3844G>T	X.37:g.130408088C>A	ENSP00000355010:p.Glu1282*					IGSF1_uc004ewe.3_Nonsense_Mutation_p.E1276*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.E1262*	p.E1282*	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			19	4082	-			1282			Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.3844G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	41	9.063342	0.99053	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	4.48	4.48	0.54585	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	11.4099	0.49919	0.0:1.0:0.0:0.0	.	.	.	.	X	1273;1282;1273;1287	.	ENSP00000355010:E1282X	E	-	1	0	IGSF1	130235769	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.837000	0.39201	2.465000	0.83290	0.544000	0.68410	GAG		0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			120	84	1	0	2.28e-34	5.87e-34	120	84				
CXorf66	347487	broad.mit.edu	37	X	139038574	139038574	+	Silent	SNP	T	T	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:139038574T>C	ENST00000370540.1	-	3	590	c.567A>G	c.(565-567)gaA>gaG	p.E189E		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	189						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TACATAATTTTTCTAGGCTGC	0.413																																						uc004fbb.2		NA																	0					0						c.(565-567)GAA>GAG		hypothetical protein LOC347487 precursor							210.0	189.0	196.0					X																	139038574		2203	4300	6503	SO:0001819	synonymous_variant	347487					integral to membrane		g.chrX:139038574T>C		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.567A>G	X.37:g.139038574T>C							p.E189E	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	589	-			189			Cytoplasmic (Potential).			Silent	SNP	ENST00000370540.1	37	c.567A>G	CCDS35411.1																																																																																				0.413	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		25	125	0	0	0	0	25	125				
AGO3	192669	broad.mit.edu	37	1	36509068	36509068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:36509068delC	ENST00000373191.4	+	17	2542	c.2193delC	c.(2191-2193)atcfs	p.I731fs	AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Frame_Shift_Del_p.I497fs	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	731	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										GTGGCAATATCCCAGCTGGAA	0.353																																						uc001bzp.2		NA																	0					0						c.(2191-2193)ATCfs		eukaryotic translation initiation factor 2C, 3							121.0	113.0	116.0					1																	36509068		2203	4300	6503	SO:0001589	frameshift_variant	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36509068delC	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2193delC	1.37:g.36509068delC	ENSP00000362287:p.Ile731fs					EIF2C3_uc001bzq.2_Frame_Shift_Del_p.I497fs	p.I731fs	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			17	2449	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	731			Piwi.		B1ALI0|Q5TA55|Q9H1U6	Frame_Shift_Del	DEL	ENST00000373191.4	37	c.2193delC	CCDS399.1																																																																																				0.353	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		14	25	NA	NA	NA	NA	14	25	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109815846	109815858	+	Frame_Shift_Del	DEL	AGAGAGTAGTGGC	AGAGAGTAGTGGC	-	rs201868117		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:109815846_109815858delAGAGAGTAGTGGC	ENST00000271332.3	+	32	8458_8470	c.8397_8409delAGAGAGTAGTGGC	c.(8395-8409)aaagagagtagtggcfs	p.KESSG2799fs	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2799					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCACAGCAAAAGAGAGTAGTGGCAACGGGGCCC	0.638																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(8395-8409)AAAGAGAGTAGTGGCfs		cadherin EGF LAG seven-pass G-type receptor 2																																				SO:0001589	frameshift_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109815846_109815858delAGAGAGTAGTGGC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8397_8409delAGAGAGTAGTGGC	1.37:g.109815846_109815858delAGAGAGTAGTGGC	ENSP00000271332:p.Lys2799fs						p.K2799fs	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	32	8458_8470	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2799_2803			Cytoplasmic (Potential).		Q5T2Y7|Q92566	Frame_Shift_Del	DEL	ENST00000271332.3	37	c.8397_8409delAGAGAGTAGTGGC	CCDS796.1																																																																																				0.638	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		16	72	NA	NA	NA	NA	16	72	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277899	152277899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152277899delG	ENST00000368799.1	-	3	9498	c.9463delC	c.(9463-9465)cagfs	p.Q3155fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3155	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCTGACTGCCCACGGGAG	0.557									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9463-9465)CAGfs		filaggrin							137.0	168.0	158.0					1																	152277899		2186	4292	6478	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277899delG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9463delC	1.37:g.152277899delG	ENSP00000357789:p.Gln3155fs						p.Q3155fs	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9499	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3155			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.9463delC	CCDS30860.1																																																																																				0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		30	225	NA	NA	NA	NA	30	225	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152278871	152278871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:152278871delG	ENST00000368799.1	-	3	8526	c.8491delC	c.(8491-8493)cagfs	p.Q2831fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2831	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCTGACTGCCCACGGGAG	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8491-8493)CAGfs		filaggrin							205.0	303.0	270.0					1																	152278871		2153	4296	6449	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278871delG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8491delC	1.37:g.152278871delG	ENSP00000357789:p.Gln2831fs						p.Q2831fs	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8527	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2831			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.8491delC	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		66	671	NA	NA	NA	NA	66	671	---	---	---	---
C1orf186	440712	broad.mit.edu	37	1	206243246	206243247	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr1:206243246_206243247insG	ENST00000331555.5	-	3	653_654	c.15_16insC	c.(13-18)gtcatgfs	p.M6fs		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	6						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGACCTCCATGACTCTGTTGG	0.525																																						uc001hdt.1		NA																	0					0						c.(13-18)GTCATGfs		hypothetical protein LOC440712																																				SO:0001589	frameshift_variant	440712					integral to membrane		g.chr1:206243246_206243247insG	AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.16dupC	1.37:g.206243247_206243247dupG	ENSP00000356093:p.Met6fs						p.V5fs	NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		3	654_655	-			5_6						Frame_Shift_Ins	INS	ENST00000331555.5	37	c.15_16insC	CCDS30995.1																																																																																				0.525	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		10	68	NA	NA	NA	NA	10	68	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49722998	49722998	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr12:49722998delC	ENST00000257909.3	+	10	1151	c.1075delC	c.(1075-1077)cccfs	p.P359fs	TROAP_ENST00000551245.1_Frame_Shift_Del_p.P359fs|TROAP_ENST00000547923.1_Frame_Shift_Del_p.P67fs	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	359					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCGGTTCACACCCATGCCATC	0.547																																						uc001rtx.3		NA																	0				ovary(1)	1						c.(1075-1077)CCCfs		tastin isoform 1							197.0	188.0	191.0					12																	49722998		2203	4300	6503	SO:0001589	frameshift_variant	10024				cell adhesion	cytoplasm		g.chr12:49722998delC	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1075delC	12.37:g.49722998delC	ENSP00000257909:p.Pro359fs					TROAP_uc009zlh.2_Frame_Shift_Del_p.P359fs|TROAP_uc001rty.2_Frame_Shift_Del_p.P67fs	p.P359fs	NM_005480	NP_005471	Q12815	TROAP_HUMAN			10	1242	+			359					F8VSF9|Q6PJU7|Q8N5B2	Frame_Shift_Del	DEL	ENST00000257909.3	37	c.1075delC	CCDS8784.1																																																																																				0.547	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		40	227	NA	NA	NA	NA	40	227	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39343779	39343793	+	In_Frame_Del	DEL	AGTGCAGTTCAACCC	AGTGCAGTTCAACCC	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr13:39343779_39343793delAGTGCAGTTCAACCC	ENST00000280481.7	+	4	5691_5705	c.5475_5489delAGTGCAGTTCAACCC	c.(5473-5490)caagtgcagttcaaccca>caa	p.VQFNP1826del		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1826	Calx-beta 1.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACAGAAACAAGTGCAGTTCAACCCAGGCCAGACC	0.479																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(5473-5490)CAAGTGCAGTTCAACCCA>CAA		FRAS1-related extracellular matrix protein 2																																				SO:0001651	inframe_deletion	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39343779_39343793delAGTGCAGTTCAACCC	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5475_5489delAGTGCAGTTCAACCC	13.37:g.39343779_39343793delAGTGCAGTTCAACCC	ENSP00000280481:p.Val1826_Pro1830del					FREM2_uc001uww.2_5'UTR	p.VQFNP1826del	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	4	5784_5798	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1826_1830			Calx-beta 1.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	In_Frame_Del	DEL	ENST00000280481.7	37	c.5475_5489delAGTGCAGTTCAACCC	CCDS31960.1																																																																																				0.479	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		8	46	NA	NA	NA	NA	8	46	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1552568	1552570	+	IGR	DEL	CCT	CCT	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:1552568_1552570delCCT	ENST00000572621.1	-	0	7445				RILP_ENST00000301336.6_In_Frame_Del_p.E118del|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CGGTCCGTGACCTCCTTGAGCTG	0.764																																						uc002ftd.2		NA																	0				ovary(1)	1						c.(352-357)GAGGTC>GTC		Rab interacting lysosomal protein																																				SO:0001628	intergenic_variant	83547				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	g.chr17:1552568_1552570delCCT	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553		17.37:g.1552571_1552573delCCT							p.E118del	NM_031430	NP_113618	Q96NA2	RILP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	3	647_649	-			118			Potential.		O14547|O75965	In_Frame_Del	DEL	ENST00000572621.1	37	c.353_355delAGG	CCDS11010.1																																																																																				0.764	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	3	NA	NA	NA	NA	4	3	---	---	---	---
RAD51C	5889	broad.mit.edu	37	17	56772501	56772501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr17:56772501delA	ENST00000337432.4	+	2	426	c.355delA	c.(355-357)aaafs	p.K119fs	RAD51C_ENST00000583539.1_Frame_Shift_Del_p.K119fs|RAD51C_ENST00000421782.2_Frame_Shift_Del_p.K119fs|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	119	Interaction with RAD51B, RAD51D and XRCC3.|Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCTTAATGAAAACAACAGA	0.398								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NA																	0					0						c.(355-357)AAAfs	Homologous_recombination	RAD51 homolog C isoform 1							63.0	57.0	59.0					17																	56772501		2203	4300	6503	SO:0001589	frameshift_variant	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56772501delA	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.355delA	17.37:g.56772501delA	ENSP00000336701:p.Lys119fs					RAD51C_uc002iwt.1_Frame_Shift_Del_p.K119fs|RAD51C_uc010woa.1_Frame_Shift_Del_p.K119fs|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	p.K119fs	NM_058216	NP_478123	O43502	RA51C_HUMAN			2	397	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		119					O43503|Q3B783	Frame_Shift_Del	DEL	ENST00000337432.4	37	c.355delA	CCDS11611.1																																																																																				0.398	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		15	30	NA	NA	NA	NA	15	30	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10912735	10912738	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:10912735_10912738delAAGT	ENST00000272238.4	+	8	746_747	c.637_638delAAGT	c.(637-639)aag>g	p.K213fs	RP11-791G15.2_ENST00000606907.1_lincRNA|ATP6V1C2_ENST00000381661.3_Splice_Site_p.K213fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	213					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCGATCAACCAAGTAAGTGAGACC	0.525																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2		NA																	0				ovary(1)	1						c.e8+1		vacuolar H+ ATPase C2 isoform a																																				SO:0001630	splice_region_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10912735_10912738delAAGT	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.638+1AAGT>-	2.37:g.10912739_10912742delAAGT						ATP6V1C2_uc002rat.2_Splice_Site_p.K213_splice	p.K213_splice	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	8	747	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)							Q96EL8	Splice_Site	DEL	ENST00000272238.4	37	c.638_splice	CCDS42653.1																																																																																				0.525	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583	Frame_Shift_Del	47	254	NA	NA	NA	NA	47	254	---	---	---	---
APOB	338	broad.mit.edu	37	2	21231819	21231819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr2:21231819delT	ENST00000233242.1	-	26	8048	c.7921delA	c.(7921-7923)atcfs	p.I2641fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2641					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.I2641L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGATGGGATTTTTATATTT	0.358																																						uc002red.2		NA																	1	Substitution - Missense(1)		NS(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7921-7923)ATCfs		apolipoprotein B precursor	Atorvastatin(DB01076)						102.0	111.0	108.0					2																	21231819		2178	4290	6468	SO:0001589	frameshift_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231819delT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7921delA	2.37:g.21231819delT	ENSP00000233242:p.Ile2641fs						p.I2641fs	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8049	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2641					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Del	DEL	ENST00000233242.1	37	c.7921delA	CCDS1703.1																																																																																				0.358	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	122	NA	NA	NA	NA	19	122	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112512959	112512959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr6:112512959delA	ENST00000230538.7	-	6	994	c.597delT	c.(595-597)tttfs	p.F199fs	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Frame_Shift_Del_p.F199fs|LAMA4_ENST00000389463.4_Frame_Shift_Del_p.F199fs|LAMA4_ENST00000522006.1_Frame_Shift_Del_p.F199fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	199	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACAATCTTCAAAGATCAGGT	0.483																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(595-597)TTTfs		laminin, alpha 4 isoform 1 precursor							93.0	81.0	85.0					6																	112512959		2203	4300	6503	SO:0001589	frameshift_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112512959delA		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.597delT	6.37:g.112512959delA	ENSP00000230538:p.Phe199fs					LAMA4_uc003pvv.2_Frame_Shift_Del_p.F199fs|LAMA4_uc003pvt.2_Frame_Shift_Del_p.F199fs	p.F199fs	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	6	906	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	199			Laminin EGF-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Frame_Shift_Del	DEL	ENST00000230538.7	37	c.597delT	CCDS43491.1																																																																																				0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		11	34	NA	NA	NA	NA	11	34	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103126741	103126742	+	Frame_Shift_Ins	INS	-	-	A	rs201905927		TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chr7:103126741_103126742insA	ENST00000428762.1	-	61	10044_10045	c.9885_9886insT	c.(9883-9888)tgtgggfs	p.G3296fs	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Frame_Shift_Ins_p.G3296fs|RELN_ENST00000473945.1_5'Flank|RELN_ENST00000343529.5_Frame_Shift_Ins_p.G3296fs|RN7SKP86_ENST00000410454.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3296					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGCTGCCCACAGCCACTTC	0.515																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9883-9888)TGTGGGfs		reelin isoform a																																				SO:0001589	frameshift_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103126741_103126742insA		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9886dupT	7.37:g.103126742_103126742dupA	ENSP00000392423:p.Gly3296fs					RELN_uc010liz.2_Frame_Shift_Ins_p.C3295fs	p.C3295fs	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	61	10045_10046	-			3295_3296					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Frame_Shift_Ins	INS	ENST00000428762.1	37	c.9885_9886insT	CCDS47680.1																																																																																				0.515	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		64	82	NA	NA	NA	NA	64	82	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7254-01A-11D-2012-08	TCGA-CV-7254-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fd22e861-571e-44da-82b6-b128e07d1963	137bf35f-72e9-46a3-a79c-251a58a698d5	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1771-1773)GGCfs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.G591fs	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1805_1806	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		7	331	NA	NA	NA	NA	7	331	---	---	---	---
