#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1orf159	54991	broad.mit.edu	37	1	1019531	1019531	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:1019531C>A	ENST00000379339.1	-	11	1022	c.812G>T	c.(811-813)tGg>tTg	p.W271L	C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000448924.1_Missense_Mutation_p.W271L|C1orf159_ENST00000379320.1_Missense_Mutation_p.W235L|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000294576.5_Missense_Mutation_p.W235L			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	271	Pro-rich.					integral component of membrane (GO:0016021)		p.W145L(1)				all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGCGCCGGCCAAATCCAGCT	0.672																																						uc001act.2																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)TGG>TTG		hypothetical protein LOC54991							19.0	27.0	24.0					1																	1019531		2146	4250	6396	SO:0001583	missense	54991					integral to membrane		g.chr1:1019531C>A	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.812G>T	1.37:g.1019531C>A	ENSP00000368644:p.Trp271Leu					C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc010nyd.1_Intron|C1orf159_uc001acm.2_Intron|C1orf159_uc009vju.1_Intron|C1orf159_uc001acn.2_Missense_Mutation_p.W235L|C1orf159_uc001acp.2_Intron	p.W271L	NM_017891	NP_060361	Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	11	1298	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	271			Pro-rich.		B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37	c.812G>T		.	.	.	.	.	.	.	.	.	.	C	11.94	1.789206	0.31685	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000379320	.	.	.	2.11	0.2	0.15181	.	.	.	.	.	T	0.27384	0.0672	.	.	.	0.09310	N	1	B;B	0.24426	0.103;0.103	B;B	0.17722	0.019;0.019	T	0.24333	-1.0163	7	0.87932	D	0	.	4.0228	0.09673	0.0:0.5865:0.0:0.4135	.	271;235	Q96HA4;Q5T2W9	CA159_HUMAN;.	L	271;271;235;235	.	ENSP00000294576:W235L	W	-	2	0	C1orf159	1009394	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.347000	0.07750	-0.110000	0.12022	0.511000	0.50034	TGG		PASS	0.672	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		12	46	12	46	---	---	---	---
NOL9	79707	broad.mit.edu	37	1	6592658	6592658	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:6592658C>G	ENST00000377705.5	-	8	1432	c.1400G>C	c.(1399-1401)cGa>cCa	p.R467P		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	467					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.R467P(1)|p.R467Q(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGAAACGTCGATTTCTCAT	0.423																																						uc001ans.2																			2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	skin(1)	1						c.(1399-1401)CGA>CCA		nucleolar protein 9							197.0	196.0	196.0					1																	6592658		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6592658C>G	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1400G>C	1.37:g.6592658C>G	ENSP00000366934:p.Arg467Pro					NOL9_uc010nzs.1_RNA	p.R467P	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	8	1419	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	467					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1400G>C	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367733	0.61513	.	.	ENSG00000162408	ENST00000377705	T	0.21191	2.02	6.04	3.18	0.36537	Pre-mRNA cleavage complex II Clp1 (1);	0.394249	0.26704	N	0.022933	T	0.35828	0.0945	M	0.62723	1.935	0.09310	N	1	D	0.71674	0.998	D	0.66196	0.942	T	0.09707	-1.0662	10	0.27082	T	0.32	-13.6136	9.2879	0.37769	0.0:0.7678:0.0:0.2322	.	467	Q5SY16	NOL9_HUMAN	P	467	ENSP00000366934:R467P	ENSP00000366934:R467P	R	-	2	0	NOL9	6515245	0.006000	0.16342	0.001000	0.08648	0.154000	0.21943	1.248000	0.32827	0.891000	0.36235	-0.291000	0.09656	CGA		PASS	0.423	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		58	217	58	217	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10336408	10336408	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:10336408G>T	ENST00000377086.1	+	12	1190	c.988G>T	c.(988-990)Gct>Tct	p.A330S	KIF1B_ENST00000377093.4_Missense_Mutation_p.A324S|KIF1B_ENST00000377081.1_Missense_Mutation_p.A330S|KIF1B_ENST00000377083.1_Missense_Mutation_p.A324S|KIF1B_ENST00000263934.6_Missense_Mutation_p.A324S			O60333	KIF1B_HUMAN	kinesin family member 1B	330	Interaction with KBP.|Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A324S(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AATGGTTGCTGCTCTGAGCCC	0.398																																						uc001aqx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(988-990)GCT>TCT		kinesin family member 1B isoform b							100.0	87.0	91.0					1																	10336408		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10336408G>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.988G>T	1.37:g.10336408G>T	ENSP00000366290:p.Ala330Ser					KIF1B_uc001aqv.3_Missense_Mutation_p.A324S|KIF1B_uc001aqw.3_Missense_Mutation_p.A324S|KIF1B_uc001aqy.2_Missense_Mutation_p.A330S|KIF1B_uc001aqz.2_Missense_Mutation_p.A330S|KIF1B_uc001ara.2_Missense_Mutation_p.A330S|KIF1B_uc001arb.2_Missense_Mutation_p.A330S	p.A330S	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	12	1190	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	330			Kinesin-motor.|Interaction with KBP.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.988G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.801908	0.96960	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	5.86	5.86	0.93980	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93913	0.8052	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.995;0.976;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.994;0.966;0.998	D	0.93754	0.7061	10	0.72032	D	0.01	.	20.1996	0.98256	0.0:0.0:1.0:0.0	.	330;330;330;330;330;324;324	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	S	330;324;324;330;324;330	ENSP00000263934:A324S;ENSP00000366297:A324S;ENSP00000366290:A330S;ENSP00000366287:A324S;ENSP00000366284:A330S	ENSP00000263934:A324S	A	+	1	0	KIF1B	10258995	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.776000	0.99001	2.776000	0.95493	0.650000	0.86243	GCT		PASS	0.398	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			14	62	14	62	---	---	---	---
TNFRSF8	943	broad.mit.edu	37	1	12175713	12175713	+	Silent	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:12175713A>G	ENST00000263932.2	+	8	1095	c.873A>G	c.(871-873)acA>acG	p.T291T	TNFRSF8_ENST00000417814.2_Silent_p.T180T	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	291					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.T291T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	TCTGTGCCACATCAGCCACCA	0.592																																						uc001atq.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(871-873)ACA>ACG		tumor necrosis factor receptor superfamily,							165.0	122.0	137.0					1																	12175713		2203	4300	6503	SO:0001819	synonymous_variant	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12175713A>G	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.873A>G	1.37:g.12175713A>G						TNFRSF8_uc010obc.1_Silent_p.T180T	p.T291T	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	8	1095	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	291			Extracellular (Potential).|TNFR-Cys 6.		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	ENST00000263932.2	37	c.873A>G	CCDS144.1																																																																																				PASS	0.592	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			28	122	28	122	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12401886	12401886	+	Silent	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:12401886G>C	ENST00000358136.3	+	41	8806	c.8676G>C	c.(8674-8676)ctG>ctC	p.L2892L	VPS13D_ENST00000356315.4_Silent_p.L2867L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.L2892L(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTTTGCTCTGAGGAACCACA	0.552																																						uc001atv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(8674-8676)CTG>CTC		vacuolar protein sorting 13D isoform 1							98.0	99.0	99.0					1																	12401886		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12401886G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8676G>C	1.37:g.12401886G>C						VPS13D_uc001atw.2_Silent_p.L2867L|VPS13D_uc001atx.2_Silent_p.L2079L	p.L2892L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	41	8817	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2891						Silent	SNP	ENST00000358136.3	37	c.8676G>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007234	0.19199	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.73	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3262	0.37995	0.0:0.1436:0.4694:0.3869	.	.	.	.	S	1714	.	.	X	+	2	2	VPS13D	12324473	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	0.796000	0.26986	0.706000	0.31912	0.585000	0.79938	TGA		PASS	0.552	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		38	171	38	171	---	---	---	---
PRAMEF2	65122	broad.mit.edu	37	1	12921377	12921377	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:12921377T>C	ENST00000240189.2	+	4	1255	c.1168T>C	c.(1168-1170)Tct>Cct	p.S390P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	390					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.S390P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAATTGCATGTCTATTGACGC	0.562																																						uc001aum.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)TCT>CCT		PRAME family member 2							108.0	110.0	110.0					1																	12921377		2202	4294	6496	SO:0001583	missense	65122							g.chr1:12921377T>C		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1168T>C	1.37:g.12921377T>C	ENSP00000240189:p.Ser390Pro						p.S390P	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1255	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	390						Missense_Mutation	SNP	ENST00000240189.2	37	c.1168T>C	CCDS149.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785367	0.31593	.	.	ENSG00000120952	ENST00000240189	T	0.12255	2.7	0.824	0.824	0.18818	.	0.067349	0.64402	N	0.000012	T	0.31544	0.0800	M	0.91196	3.185	0.09310	N	1	D	0.54207	0.965	P	0.57371	0.819	T	0.09751	-1.0660	10	0.87932	D	0	.	3.9396	0.09321	0.0:0.0:0.0:1.0	.	390	O60811	PRAM2_HUMAN	P	390	ENSP00000240189:S390P	ENSP00000240189:S390P	S	+	1	0	PRAMEF2	12843964	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	1.733000	0.38156	0.624000	0.30286	0.145000	0.16022	TCT		PASS	0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		52	185	52	185	---	---	---	---
CNR2	1269	broad.mit.edu	37	1	24201704	24201704	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:24201704A>T	ENST00000374472.4	-	2	565	c.404T>A	c.(403-405)cTg>cAg	p.L135Q	CNR2_ENST00000536471.1_Missense_Mutation_p.L135Q	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	135					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.L135Q(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TGGATAGCGCAGGCAGAGGTA	0.582																																						uc001bif.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(403-405)CTG>CAG		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						111.0	102.0	105.0					1																	24201704		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201704A>T	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.404T>A	1.37:g.24201704A>T	ENSP00000363596:p.Leu135Gln						p.L135Q	NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	531	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	135			Cytoplasmic (Potential).		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.404T>A	CCDS245.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.285505	0.59867	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.73152	-0.72;-0.72	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.057984	0.64402	D	0.000004	D	0.83353	0.5236	M	0.73217	2.22	0.51482	D	0.999928	D	0.76494	0.999	D	0.80764	0.994	D	0.85301	0.1073	10	0.87932	D	0	.	16.11	0.81255	1.0:0.0:0.0:0.0	.	135	P34972	CNR2_HUMAN	Q	135	ENSP00000363596:L135Q;ENSP00000442830:L135Q	ENSP00000363596:L135Q	L	-	2	0	CNR2	24074291	1.000000	0.71417	0.996000	0.52242	0.059000	0.15707	9.305000	0.96197	2.199000	0.70637	0.454000	0.30748	CTG		PASS	0.582	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		27	112	27	112	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34401428	34401428	+	Silent	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:34401428G>A	ENST00000373381.4	-	4	821	c.645C>T	c.(643-645)gcC>gcT	p.A215A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	175	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A175A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGTGAGCACGGCGTGGCCCT	0.632																																						uc001bxn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(523-525)GCC>GCT		CUB and Sushi multiple domains 2							89.0	82.0	85.0					1																	34401428		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34401428G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.645C>T	1.37:g.34401428G>A						CSMD2_uc001bxm.1_Silent_p.A215A	p.A175A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			4	554	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	175			Sushi 1.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.525C>T																																																																																					PASS	0.632	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		23	69	23	69	---	---	---	---
GJA4	2701	broad.mit.edu	37	1	35260622	35260622	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:35260622G>T	ENST00000342280.4	+	2	896	c.808G>T	c.(808-810)Ggc>Tgc	p.G270C		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	270					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)		p.G270C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCTCCCCGTGGGCCAGGGGCC	0.652																																						uc001bya.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(808-810)GGC>TGC		connexin 37							47.0	50.0	49.0					1																	35260622		2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260622G>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.808G>T	1.37:g.35260622G>T	ENSP00000343676:p.Gly270Cys					GJA4_uc009vul.2_Missense_Mutation_p.G346C|GJA4_uc009vum.1_Missense_Mutation_p.G270C	p.G270C	NM_002060	NP_002051	P35212	CXA4_HUMAN			2	896	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	270			Cytoplasmic (Potential).		A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.808G>T	CCDS30669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.72|10.72	1.429500|1.429500	0.25726|0.25726	.|.	.|.	ENSG00000187513|ENSG00000187513	ENST00000342280;ENST00000450137|ENST00000543143	T;D|.	0.97480|.	-1.28;-4.4|.	5.52|5.52	3.31|3.31	0.37934|0.37934	.|.	3.816340|.	0.00424|.	N|.	0.000073|.	T|T	0.45115|0.45115	0.1326|0.1326	L|L	0.44542|0.44542	1.39|1.39	0.31568|0.31568	N|N	0.656653|0.656653	P;P|.	0.51240|.	0.943;0.553|.	P;B|.	0.46076|.	0.503;0.257|.	T|T	0.50767|0.50767	-0.8789|-0.8789	10|5	0.25106|.	T|.	0.35|.	.|.	9.5974|9.5974	0.39582|0.39582	0.2924:0.0:0.7076:0.0|0.2924:0.0:0.7076:0.0	.|.	270;270|.	Q5JW71;P35212|.	.;CXA4_HUMAN|.	C|C	270|269	ENSP00000343676:G270C;ENSP00000409186:G270C|.	ENSP00000343676:G270C|.	G|W	+|+	1|3	0|0	GJA4|GJA4	35033209|35033209	0.935000|0.935000	0.31712|0.31712	1.000000|1.000000	0.80357|0.80357	0.670000|0.670000	0.39368|0.39368	1.382000|1.382000	0.34374|0.34374	1.322000|1.322000	0.45245|0.45245	0.561000|0.561000	0.74099|0.74099	GGC|TGG		PASS	0.652	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		12	31	12	31	---	---	---	---
ZMYM1	79830	broad.mit.edu	37	1	35580300	35580300	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:35580300A>T	ENST00000373330.1	+	11	3043	c.2869A>T	c.(2869-2871)Act>Tct	p.T957S	ZMYM1_ENST00000359858.4_Missense_Mutation_p.T957S|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	957						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T957S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTTTTCCTACTTCAACAGA	0.259																																						uc001bym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2869-2871)ACT>TCT		zinc finger, MYM domain containing 1							17.0	19.0	18.0					1																	35580300		1751	3913	5664	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580300A>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2869A>T	1.37:g.35580300A>T	ENSP00000362427:p.Thr957Ser					ZMYM1_uc001byn.2_Missense_Mutation_p.T957S|ZMYM1_uc010ohu.1_Missense_Mutation_p.T938S|ZMYM1_uc001byo.2_Missense_Mutation_p.T597S|ZMYM1_uc009vut.2_Missense_Mutation_p.T882S	p.T957S	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	3017	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	957					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2869A>T	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	A	3.011	-0.203895	0.06180	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.16897	2.58;2.31;2.58	4.21	0.558	0.17266	Ribonuclease H-like (1);	0.327542	0.22337	N	0.061385	T	0.07863	0.0197	N	0.24115	0.695	0.22866	N	0.998633	B;B	0.23540	0.087;0.036	B;B	0.15052	0.012;0.012	T	0.28427	-1.0044	9	.	.	.	-2.574	2.9556	0.05875	0.6162:0.0:0.2025:0.1813	.	938;957	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	S	957;882;957	ENSP00000352920:T957S;ENSP00000362426:T882S;ENSP00000362427:T957S	.	T	+	1	0	ZMYM1	35352887	0.971000	0.33674	0.997000	0.53966	0.177000	0.22998	0.307000	0.19296	0.080000	0.16959	0.455000	0.32223	ACT		PASS	0.259	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		10	41	10	41	---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39878642	39878642	+	Nonsense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:39878642C>G	ENST00000530275.1	+	1	2492	c.2297C>G	c.(2296-2298)tCa>tGa	p.S766*	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	766	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTGCAGTATCAGCCCCAGAG	0.537																																						uc009vvt.1																			0					0						c.(2704-2706)TCA>TGA		hypothetical protein LOC643314							37.0	37.0	37.0					1																	39878642		1958	4156	6114	SO:0001587	stop_gained	643314							g.chr1:39878642C>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2297C>G	1.37:g.39878642C>G	ENSP00000431179:p.Ser766*					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.S902*	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3467	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	766			Ala-rich.		E9PMC2|Q6ZSB2	Nonsense_Mutation	SNP	ENST00000530275.1	37	c.2705C>G		.	.	.	.	.	.	.	.	.	.	C	36	5.774464	0.96922	.	.	ENSG00000255103	ENST00000530275	.	.	.	3.4	0.333	0.15943	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.2292	0.26033	0.0:0.673:0.0:0.327	.	.	.	.	X	766	.	ENSP00000431179:S766X	S	+	2	0	RP4-562N20.1	39651229	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-0.148000	0.10219	-0.025000	0.13918	0.561000	0.74099	TCA		PASS	0.537	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		3	18	3	18	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42048060	42048060	+	Silent	SNP	G	G	A	rs567246160		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:42048060G>A	ENST00000372583.1	-	4	3294	c.2409C>T	c.(2407-2409)acC>acT	p.T803T	HIVEP3_ENST00000372584.1_Silent_p.T803T|HIVEP3_ENST00000247584.5_Silent_p.T803T|HIVEP3_ENST00000429157.2_Silent_p.T803T|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	803	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T803T(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAAAGGAGCTGGTGTGCTGGA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18184	0.0		0.0	False		,,,				2504	0.001					uc001cgz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2407-2409)ACC>ACT		human immunodeficiency virus type I enhancer							46.0	49.0	48.0					1																	42048060		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048060G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2409C>T	1.37:g.42048060G>A						HIVEP3_uc001cha.3_Silent_p.T803T|HIVEP3_uc001cgy.2_RNA	p.T803T	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	3622	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	803			Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.2409C>T	CCDS463.1																																																																																				PASS	0.567	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		40	95	40	95	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43777413	43777413	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:43777413G>C	ENST00000372476.3	+	10	1484	c.1405G>C	c.(1405-1407)Gtc>Ctc	p.V469L	TIE1_ENST00000433781.2_Missense_Mutation_p.V114L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	469	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V469L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCCCGCTGGTCTCGTTCTC	0.647																																						uc001ciu.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1405-1407)GTC>CTC		tyrosine kinase with immunoglobulin-like and							62.0	60.0	60.0					1																	43777413		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777413G>C	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1405G>C	1.37:g.43777413G>C	ENSP00000361554:p.Val469Leu					TIE1_uc010okd.1_Missense_Mutation_p.V469L|TIE1_uc010oke.1_Missense_Mutation_p.V424L|TIE1_uc009vwq.2_Missense_Mutation_p.V425L|TIE1_uc010okf.1_Missense_Mutation_p.V114L|TIE1_uc010okg.1_Missense_Mutation_p.V114L	p.V469L	NM_005424	NP_005415	P35590	TIE1_HUMAN			10	1484	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	469			Extracellular (Potential).|Fibronectin type-III 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1405G>C	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617526	0.46736	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.56776	0.44;0.44	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.33346	N	0.005003	T	0.53384	0.1793	L	0.44542	1.39	0.34042	D	0.655053	B;B;P;B;P	0.44090	0.257;0.356;0.826;0.302;0.612	B;B;P;B;B	0.47673	0.053;0.119;0.554;0.089;0.206	T	0.67573	-0.5636	10	0.54805	T	0.06	.	14.3012	0.66355	0.0:0.1485:0.8515:0.0	.	114;424;469;114;469	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	L	469;114	ENSP00000361554:V469L;ENSP00000411728:V114L	ENSP00000361554:V469L	V	+	1	0	TIE1	43550000	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.773000	0.55333	2.421000	0.82119	0.563000	0.77884	GTC		PASS	0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		16	90	16	90	---	---	---	---
FAM159A	348378	broad.mit.edu	37	1	53122610	53122610	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:53122610C>T	ENST00000517870.1	+	3	621	c.471C>T	c.(469-471)ctC>ctT	p.L157L	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	157						integral component of membrane (GO:0016021)		p.L157L(1)		endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CCAAACGCCTCCTCCATCATT	0.572																																						uc001cuf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(469-471)CTC>CTT		hypothetical protein LOC348378							140.0	148.0	146.0					1																	53122610		2096	4230	6326	SO:0001819	synonymous_variant	348378					integral to membrane		g.chr1:53122610C>T		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.471C>T	1.37:g.53122610C>T						FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron	p.L157L	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN			3	571	+			157					Q6ZRG4	Silent	SNP	ENST00000517870.1	37	c.471C>T	CCDS41336.1																																																																																				PASS	0.572	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		79	247	79	247	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67147612	67147612	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:67147612A>G	ENST00000371037.4	+	15	952	c.875A>G	c.(874-876)gAc>gGc	p.D292G	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.D296G|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	292	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.D292G(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AATGACTTGGACAGCATTTTT	0.403																																						uc001dcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(874-876)GAC>GGC		SH3-domain GRB2-like (endophilin) interacting							122.0	120.0	121.0					1																	67147612		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147612A>G	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.875A>G	1.37:g.67147612A>G	ENSP00000360076:p.Asp292Gly					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.D59G	p.D292G	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1092	+			292			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.875A>G	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265790	0.80358	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.24350	1.86;1.97	5.45	5.45	0.79879	.	0.050754	0.85682	D	0.000000	T	0.29288	0.0729	L	0.40543	1.245	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.74674	0.98;0.984	T	0.02519	-1.1147	10	0.23302	T	0.38	-16.1074	15.8223	0.78667	1.0:0.0:0.0:0.0	.	295;292	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	G	296;295;295;292	ENSP00000237247:D296G;ENSP00000360076:D292G	ENSP00000237247:D296G	D	+	2	0	SGIP1	66920200	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.740000	0.91579	2.188000	0.69820	0.528000	0.53228	GAC		PASS	0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		50	247	50	247	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75107037	75107037	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:75107037C>T	ENST00000326665.5	-	5	640	c.422G>A	c.(421-423)gGa>gAa	p.G141E		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		141								p.G141E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACTGGAATGTCCTTCATCAAC	0.423																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(421-423)GGA>GAA		hypothetical protein LOC127254							159.0	140.0	146.0					1																	75107037		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75107037C>T																												ENST00000326665.5:c.422G>A	1.37:g.75107037C>T	ENSP00000322609:p.Gly141Glu						p.G141E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			5	641	-			141					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.422G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043372	0.36085	.	.	ENSG00000178965	ENST00000326665	T	0.11385	2.78	5.41	2.39	0.29439	.	.	.	.	.	T	0.02047	0.0064	L	0.44542	1.39	0.80722	D	1	B	0.31318	0.319	B	0.30105	0.111	T	0.31024	-0.9958	9	0.02654	T	1	-7.6216	4.0661	0.09861	0.1861:0.6229:0.0:0.191	.	141	Q5RHP9	CA173_HUMAN	E	141	ENSP00000322609:G141E	ENSP00000322609:G141E	G	-	2	0	C1orf173	74879625	1.000000	0.71417	0.999000	0.59377	0.126000	0.20510	1.972000	0.40540	1.431000	0.47355	0.557000	0.71058	GGA		PASS	0.423	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			43	140	43	140	---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84403661	84403661	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:84403661G>T	ENST00000260505.8	-	8	1139	c.762C>A	c.(760-762)aaC>aaA	p.N254K	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	254	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.N254K(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CATTATGCTTGTTCACGGAGT	0.398																																						uc001djc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(760-762)AAC>AAA		tubulin tyrosine ligase-like family, member 7							220.0	190.0	200.0					1																	84403661		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84403661G>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.762C>A	1.37:g.84403661G>T	ENSP00000260505:p.Asn254Lys					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	p.N254K	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	8	1158	-			254			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.762C>A	CCDS690.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058852	0.76074	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.06218	3.33	5.75	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	M	0.92691	3.335	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	T	0.01273	-1.1399	10	0.87932	D	0	.	7.8428	0.29408	0.2467:0.0:0.7533:0.0	.	254	Q6ZT98	TTLL7_HUMAN	K	254	ENSP00000260505:N254K	ENSP00000260505:N254K	N	-	3	2	TTLL7	84176249	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.154000	0.58125	2.705000	0.92388	0.655000	0.94253	AAC		PASS	0.398	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		53	166	53	166	---	---	---	---
SAMD13	148418	broad.mit.edu	37	1	84791331	84791331	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:84791331A>G	ENST00000370671.3	+	3	184	c.125A>G	c.(124-126)aAt>aGt	p.N42S	SAMD13_ENST00000370670.2_Missense_Mutation_p.N22S|SAMD13_ENST00000370668.3_Missense_Mutation_p.N22S|SAMD13_ENST00000370673.3_Missense_Mutation_p.N36S|SAMD13_ENST00000394834.3_Missense_Mutation_p.N22S|SAMD13_ENST00000370669.1_Missense_Mutation_p.N22S			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	42								p.N36S(1)		lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		TCCATGGAAAATGGGAGACCA	0.517																																						uc001djr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)AAT>AGT		sterile alpha motif domain containing 13 isoform							153.0	123.0	133.0					1																	84791331		2203	4300	6503	SO:0001583	missense	148418							g.chr1:84791331A>G		CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"""Sterile alpha motif (SAM) domain containing"""	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.125A>G	1.37:g.84791331A>G	ENSP00000359705:p.Asn42Ser					SAMD13_uc010orw.1_Missense_Mutation_p.N22S|SAMD13_uc010orx.1_Missense_Mutation_p.N22S	p.N36S	NM_001010971	NP_001010971	Q5VXD3	SAM13_HUMAN		all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)	3	299	+			42					B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Missense_Mutation	SNP	ENST00000370671.3	37	c.107A>G		.	.	.	.	.	.	.	.	.	.	A	15.25	2.779199	0.49891	.	.	ENSG00000203943	ENST00000370673;ENST00000370671;ENST00000394834;ENST00000370669;ENST00000370668;ENST00000370670	.	.	.	5.06	3.93	0.45458	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	N	0.24115	0.695	0.80722	D	1	P;D	0.67145	0.88;0.996	P;D	0.70935	0.636;0.971	T	0.35500	-0.9786	9	0.06099	T	0.92	-10.8272	9.966	0.41725	0.9172:0.0:0.0828:0.0	.	42;36	Q5VXD3;Q5VXD3-2	SAM13_HUMAN;.	S	36;42;22;22;22;22	.	ENSP00000359702:N22S	N	+	2	0	SAMD13	84563919	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.879000	0.63100	0.763000	0.33175	-0.410000	0.06199	AAT		PASS	0.517	SAMD13-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027243.1	NM_001010971		19	76	19	76	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91779026	91779026	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:91779026T>C	ENST00000370425.3	-	30	3369	c.3271A>G	c.(3271-3273)Aca>Gca	p.T1091A	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.T770A|HFM1_ENST00000294696.5_Missense_Mutation_p.T323A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1091	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.T1091A(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAAAGACTGTAAGTTTCTGC	0.308																																						uc001doa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3271-3273)ACA>GCA		HFM1 protein							85.0	85.0	85.0					1																	91779026		2202	4296	6498	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91779026T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3271A>G	1.37:g.91779026T>C	ENSP00000359454:p.Thr1091Ala					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.T770A|HFM1_uc001dob.3_Missense_Mutation_p.T279A|HFM1_uc010osv.1_Missense_Mutation_p.T775A	p.T1091A	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	30	3371	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1091			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3271A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414753	0.42817	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.59772	0.24;0.24;0.24	5.57	3.19	0.36642	Sec63 domain (2);	0.254323	0.32231	N	0.006397	T	0.29321	0.0730	L	0.57536	1.79	0.28614	N	0.908494	B;B;B	0.23990	0.02;0.095;0.042	B;B;B	0.24394	0.014;0.053;0.053	T	0.18023	-1.0350	10	0.34782	T	0.22	.	7.2291	0.26033	0.1386:0.0709:0.0:0.7905	.	770;302;1091	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	A	1091;323;770;775	ENSP00000359454:T1091A;ENSP00000294696:T323A;ENSP00000359453:T770A	ENSP00000294696:T323A	T	-	1	0	HFM1	91551614	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.735000	0.38176	0.366000	0.24427	0.482000	0.46254	ACA		PASS	0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		31	119	31	119	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94490552	94490552	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:94490552G>A	ENST00000370225.3	-	31	4678	c.4592C>T	c.(4591-4593)tCc>tTc	p.S1531F		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1531					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.S1531F(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAGAAGTCGGAGATGTTCCT	0.428																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(4591-4593)TCC>TTC		ATP-binding cassette, sub-family A member 4							128.0	122.0	124.0					1																	94490552		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94490552G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4592C>T	1.37:g.94490552G>A	ENSP00000359245:p.Ser1531Phe						p.S1531F	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	31	4696	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1531			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.4592C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863607	0.91511	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.96232	-3.95	5.09	5.09	0.68999	.	0.060792	0.64402	D	0.000002	D	0.98201	0.9405	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98939	1.0790	10	0.87932	D	0	.	18.6876	0.91571	0.0:0.0:1.0:0.0	.	1531	P78363	ABCA4_HUMAN	F	323;1531	ENSP00000359245:S1531F	ENSP00000359245:S1531F	S	-	2	0	ABCA4	94263140	1.000000	0.71417	0.923000	0.36655	0.977000	0.68977	7.646000	0.83445	2.646000	0.89796	0.655000	0.94253	TCC		PASS	0.428	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		32	131	32	131	---	---	---	---
SARS	6301	broad.mit.edu	37	1	109779943	109779943	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:109779943G>C	ENST00000234677.2	+	10	1410	c.1335G>C	c.(1333-1335)caG>caC	p.Q445H	SARS_ENST00000369923.4_Missense_Mutation_p.Q467H|SARS_ENST00000468588.1_3'UTR	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	445					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.Q445H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGAACTACCAGACAGAGAAGG	0.522																																						uc001dwu.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1333-1335)CAG>CAC		seryl-tRNA synthetase	L-Serine(DB00133)						134.0	118.0	124.0					1																	109779943		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109779943G>C	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1335G>C	1.37:g.109779943G>C	ENSP00000234677:p.Gln445His					SARS_uc001dwv.1_Missense_Mutation_p.Q470H|SARS_uc001dww.1_Missense_Mutation_p.Q378H|SARS_uc001dwx.1_Missense_Mutation_p.Q397H|SARS_uc009wfa.1_Intron|SARS_uc001dwy.1_Missense_Mutation_p.Q270H|SARS_uc001dwz.1_Missense_Mutation_p.Q270H	p.Q445H	NM_006513	NP_006504	P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	10	1410	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	445					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.1335G>C	CCDS795.1	.	.	.	.	.	.	.	.	.	.	N	19.00	3.741335	0.69304	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	D;T	0.84660	-1.88;-1.12	5.94	5.03	0.67393	Aminoacyl-tRNA synthetase, class II (1);	0.050032	0.85682	D	0.000000	D	0.92463	0.7607	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.93910	0.7196	10	0.87932	D	0	-20.0751	11.007	0.47639	0.143:0.0:0.857:0.0	.	445;467;445	Q53HA4;Q5T5C7;P49591	.;.;SYSC_HUMAN	H	445;467	ENSP00000234677:Q445H;ENSP00000358939:Q467H	ENSP00000234677:Q445H	Q	+	3	2	SARS	109581466	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.340000	0.59328	1.537000	0.49254	-0.145000	0.13849	CAG		PASS	0.522	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		28	117	28	117	---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110557398	110557398	+	Silent	SNP	C	C	T	rs144479834	byFrequency	TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:110557398C>T	ENST00000369799.5	+	6	961	c.594C>T	c.(592-594)ttC>ttT	p.F198F	AHCYL1_ENST00000359172.3_Silent_p.F151F|AHCYL1_ENST00000393614.4_Silent_p.F151F|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	198					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.F198F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TTGCAGTGTTCGCTTGGAAGG	0.458													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19440	0.0		0.0	False		,,,				2504	0.0					uc001dyx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(592-594)TTC>TTT		S-adenosylhomocysteine hydrolase-like 1		C	,,,,	4,4402	8.1+/-20.4	0,4,2199	199.0	179.0	186.0		453,453,453,453,594	-4.4	0.9	1	dbSNP_134	186	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AHCYL1	NM_001242673.1,NM_001242674.1,NM_001242675.1,NM_001242676.1,NM_006621.5	,,,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,,,	151/484,151/484,151/484,151/484,198/531	110557398	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110557398C>T	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.594C>T	1.37:g.110557398C>T						AHCYL1_uc010ovw.1_Silent_p.F151F|AHCYL1_uc001dyy.2_Silent_p.F151F|AHCYL1_uc010ovx.1_Silent_p.F151F	p.F198F	NM_006621	NP_006612	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	6	961	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	198					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Silent	SNP	ENST00000369799.5	37	c.594C>T	CCDS818.1																																																																																				PASS	0.458	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			21	82	21	82	---	---	---	---
LRIF1	55791	broad.mit.edu	37	1	111494237	111494237	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:111494237C>G	ENST00000369763.4	-	2	1659	c.1269G>C	c.(1267-1269)caG>caC	p.Q423H	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.Q423H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTGTCTCCATCTGGGAAGATT	0.403																																						uc001eaa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1267-1269)CAG>CAC		receptor-interacting factor 1 isoform 1							170.0	174.0	173.0					1																	111494237		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494237C>G	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1269G>C	1.37:g.111494237C>G	ENSP00000358778:p.Gln423His					C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.Q423H	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	1525	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	423					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1269G>C	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746626	0.49257	.	.	ENSG00000121931	ENST00000369763	T	0.38401	1.14	5.83	5.83	0.93111	.	0.199574	0.35739	N	0.003013	T	0.24851	0.0603	M	0.61703	1.905	0.80722	D	1	B	0.28291	0.206	B	0.27500	0.08	T	0.10200	-1.0640	10	0.66056	D	0.02	0.0266	12.542	0.56177	0.1664:0.8336:0.0:0.0	.	423	Q5T3J3	LRIF1_HUMAN	H	423	ENSP00000358778:Q423H	ENSP00000358778:Q423H	Q	-	3	2	LRIF1	111295760	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	0.528000	0.23002	2.762000	0.94881	0.591000	0.81541	CAG		PASS	0.403	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		106	371	106	371	---	---	---	---
HMGCS2	3158	broad.mit.edu	37	1	120295926	120295926	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:120295926C>A	ENST00000369406.3	-	7	1320	c.1271G>T	c.(1270-1272)cGa>cTa	p.R424L	HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Missense_Mutation_p.R382L	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	424					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.R424L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CTGGGATACTCGAAATGAAAA	0.478																																						uc001eid.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1270-1272)CGA>CTA		hydroxymethylglutaryl-CoA synthase 2 isoform 1							65.0	63.0	64.0					1																	120295926		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120295926C>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1271G>T	1.37:g.120295926C>A	ENSP00000358414:p.Arg424Leu					HMGCS2_uc010oxj.1_Missense_Mutation_p.R382L|HMGCS2_uc001eie.2_Missense_Mutation_p.R332L	p.R424L	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	7	1322	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	424					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.1271G>T	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454556	0.43634	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	T;T	0.77877	-1.13;-1.13	5.39	3.51	0.40186	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.107587	0.41712	D	0.000829	T	0.76969	0.4062	M	0.84585	2.705	0.41661	D	0.989186	P;P	0.43701	0.815;0.53	P;B	0.48030	0.564;0.179	T	0.79764	-0.1666	10	0.72032	D	0.01	-2.7862	11.0414	0.47833	0.0:0.8463:0.0:0.1537	.	382;424	B7Z8R3;P54868	.;HMCS2_HUMAN	L	424;382	ENSP00000358414:R424L;ENSP00000439495:R382L	ENSP00000358414:R424L	R	-	2	0	HMGCS2	120097449	0.002000	0.14202	0.021000	0.16686	0.642000	0.38348	0.715000	0.25822	0.750000	0.32877	0.462000	0.41574	CGA		PASS	0.478	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		10	39	10	39	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191986	152191986	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:152191986A>T	ENST00000368801.2	-	3	2194	c.2119T>A	c.(2119-2121)Tca>Aca	p.S707T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	707					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S707T(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCCCTGAGCCAGACTTG	0.562																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2119-2121)TCA>ACA		hornerin							170.0	181.0	177.0					1																	152191986		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191986A>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2119T>A	1.37:g.152191986A>T	ENSP00000357791:p.Ser707Thr						p.S707T	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2195	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		707			7.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2119T>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.800	0.932629	0.18131	.	.	ENSG00000197915	ENST00000368801	T	0.18657	2.2	2.45	2.45	0.29901	.	.	.	.	.	T	0.15392	0.0371	L	0.53249	1.67	0.09310	N	0.999999	D	0.61080	0.989	P	0.58172	0.834	T	0.08269	-1.0730	9	0.17832	T	0.49	.	8.4412	0.32816	1.0:0.0:0.0:0.0	.	707	Q86YZ3	HORN_HUMAN	T	707	ENSP00000357791:S707T	ENSP00000357791:S707T	S	-	1	0	HRNR	150458610	0.002000	0.14202	0.046000	0.18839	0.052000	0.14988	1.188000	0.32102	1.126000	0.42016	0.491000	0.48974	TCA		PASS	0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		51	204	51	204	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282838	152282838	+	Silent	SNP	T	T	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:152282838T>G	ENST00000368799.1	-	3	4559	c.4524A>C	c.(4522-4524)tcA>tcC	p.S1508S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1508	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)	p.S1508S(1)		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)			ACCTATCTACTGATTGCTCGT	0.582									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4522-4524)TCA>TCC		filaggrin							373.0	352.0	359.0					1																	152282838		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282838T>G	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.4524A>C	1.37:g.152282838T>G							p.S1508S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4560	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1508			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4524A>C	CCDS30860.1																																																																																				PASS	0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		141	150	141	150	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152284000	152284000	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:152284000A>G	ENST00000368799.1	-	3	3397	c.3362T>C	c.(3361-3363)gTg>gCg	p.V1121A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1121	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)	p.V1121A(1)		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)			ATGAGTGCTCACCTGGTAGAT	0.607									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(3361-3363)GTG>GCG		filaggrin							219.0	247.0	237.0					1																	152284000		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284000A>G	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.3362T>C	1.37:g.152284000A>G	ENSP00000357789:p.Val1121Ala					uc001ezv.2_5'Flank	p.V1121A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3398	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1121			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3362T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	4.258	0.046946	0.08243	.	.	ENSG00000143631	ENST00000368799	T	0.01745	4.66	1.7	-3.4	0.04853	.	.	.	.	.	T	0.00384	0.0012	L	0.49455	1.56	0.09310	N	1	B	0.32409	0.37	B	0.26517	0.07	T	0.47636	-0.9102	9	0.09338	T	0.73	.	0.0701	0.00021	0.3001:0.2509:0.2003:0.2487	.	1121	P20930	FILA_HUMAN	A	1121	ENSP00000357789:V1121A	ENSP00000357789:V1121A	V	-	2	0	FLG	150550624	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.867000	0.04241	-0.196000	0.10366	0.249000	0.18162	GTG		PASS	0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		137	146	137	146	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325501	152325501	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:152325501C>T	ENST00000388718.5	-	3	4833	c.4761G>A	c.(4759-4761)ggG>ggA	p.G1587G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1587					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1587G(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGAGCCCCCTGAGTGCA	0.517																																						uc001ezw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4759-4761)GGG>GGA		filaggrin family member 2							331.0	295.0	307.0					1																	152325501		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325501C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4761G>A	1.37:g.152325501C>T						uc001ezv.2_Intron	p.G1587G	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4834	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1587					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4761G>A	CCDS30861.1																																																																																				PASS	0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		117	359	117	359	---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154544213	154544213	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:154544213T>C	ENST00000368476.3	+	5	1178	c.914T>C	c.(913-915)aTg>aCg	p.M305T		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	305					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.M305T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ATGTTCACCATGGTGCTTGTC	0.632																																						uc001ffg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)ATG>ACG		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						156.0	116.0	130.0					1																	154544213		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544213T>C	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.914T>C	1.37:g.154544213T>C	ENSP00000357461:p.Met305Thr						p.M305T	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1178	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		305			Helical; (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.914T>C	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.720036	0.68844	.	.	ENSG00000160716	ENST00000368476	D	0.88354	-2.37	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.95965	0.8965	10	0.87932	D	0	.	12.6654	0.56840	0.0:0.0:0.0:1.0	.	305	P17787	ACHB2_HUMAN	T	305	ENSP00000357461:M305T	ENSP00000357461:M305T	M	+	2	0	CHRNB2	152810837	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.817000	0.86213	1.645000	0.50612	0.260000	0.18958	ATG		PASS	0.632	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		17	95	17	95	---	---	---	---
FCRL1	115350	broad.mit.edu	37	1	157771929	157771929	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:157771929A>T	ENST00000368176.3	-	5	729	c.662T>A	c.(661-663)gTg>gAg	p.V221E	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.V221E|FCRL1_ENST00000491942.1_Missense_Mutation_p.V221E	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	221	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V221E(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACATCCTCCACTGCAGCCTG	0.592																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2																			2	Substitution - Missense(2)		lung(2)	skin(4)|ovary(3)	7						c.(661-663)GTG>GAG		Fc receptor-like 1 isoform 1 precursor							38.0	39.0	38.0					1																	157771929		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771929A>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.662T>A	1.37:g.157771929A>T	ENSP00000357158:p.Val221Glu					FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.V221E|FCRL1_uc001fri.2_Missense_Mutation_p.V221E|FCRL1_uc001frj.2_RNA	p.V221E	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	775	-	all_hematologic(112;0.0378)		221			Ig-like C2-type 3.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.662T>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	A	7.791	0.711596	0.15306	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03094	4.05;4.05;4.05	4.86	3.72	0.42706	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.650209	0.14327	N	0.326597	T	0.04318	0.0119	M	0.81614	2.55	0.19300	N	0.999979	B;P;P	0.42337	0.328;0.776;0.509	B;P;B	0.48815	0.219;0.591;0.206	T	0.31166	-0.9953	9	.	.	.	.	7.4548	0.27258	0.902:0.0:0.098:0.0	.	221;221;221	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	E	221	ENSP00000351039:V221E;ENSP00000357158:V221E;ENSP00000418130:V221E	.	V	-	2	0	FCRL1	156038553	0.001000	0.12720	0.157000	0.22605	0.009000	0.06853	0.742000	0.26216	0.963000	0.38082	0.533000	0.62120	GTG		PASS	0.592	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		22	62	22	62	---	---	---	---
PBX1	5087	broad.mit.edu	37	1	164769081	164769081	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:164769081C>T	ENST00000420696.2	+	4	844	c.656C>T	c.(655-657)aCg>aTg	p.T219M	PBX1_ENST00000540246.1_Missense_Mutation_p.T114M|PBX1_ENST00000401534.1_Missense_Mutation_p.T219M|PBX1_ENST00000540236.1_Missense_Mutation_p.T219M|PBX1_ENST00000559240.1_Missense_Mutation_p.T219M|PBX1_ENST00000560641.1_Missense_Mutation_p.T114M|PBX1_ENST00000367897.1_Missense_Mutation_p.T219M	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	219					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T219M(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AAGCAGAGCACGTGCGAGGCG	0.607			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|lung(1)|skin(1)	5						c.(655-657)ACG>ATG		pre-B-cell leukemia homeobox 1							126.0	99.0	108.0					1																	164769081		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164769081C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.656C>T	1.37:g.164769081C>T	ENSP00000405890:p.Thr219Met					PBX1_uc010pku.1_Missense_Mutation_p.T219M|PBX1_uc010pkv.1_Missense_Mutation_p.T136M|PBX1_uc001gcs.2_Missense_Mutation_p.T219M|PBX1_uc010pkw.1_Missense_Mutation_p.T109M	p.T219M	NM_002585	NP_002576	P40424	PBX1_HUMAN			4	914	+			219					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.656C>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154019	0.94645	.	.	ENSG00000185630	ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.64	5.64	0.86602	PBX (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.87547	2.89	.	.	.	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.956;0.991;0.963;0.997;0.998	T	0.71603	-0.4543	9	0.66056	D	0.02	-12.6465	19.3125	0.94195	0.0:1.0:0.0:0.0	.	114;219;219;219;219	B7Z774;A8K5V0;F5H4U9;P40424;Q53YC7	.;.;.;PBX1_HUMAN;.	M	219;219;219;219;114	ENSP00000405890:T219M;ENSP00000356872:T219M;ENSP00000439943:T219M;ENSP00000384856:T219M;ENSP00000440869:T114M	ENSP00000356872:T219M	T	+	2	0	PBX1	163035705	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.380000	0.79704	2.653000	0.90120	0.655000	0.94253	ACG		PASS	0.607	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		14	38	14	38	---	---	---	---
F5	2153	broad.mit.edu	37	1	169529825	169529825	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:169529825C>T	ENST00000367797.3	-	4	754	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	F5_ENST00000367796.3_Missense_Mutation_p.G185R|F5_ENST00000546081.1_Missense_Mutation_p.G48R	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	185	F5/8 type A 1.|Plastocyanin-like 1.				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)	p.G185R(1)		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)	CCAATCAGCCCCGAGTTGAAA	0.468																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(553-555)GGG>AGG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						124.0	122.0	123.0					1																	169529825		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.chr1:169529825C>T	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.553G>A	1.37:g.169529825C>T	ENSP00000356771:p.Gly185Arg					F5_uc010plr.1_RNA	p.G185R	NM_000130	NP_000121	P12259	FA5_HUMAN			4	698	-	all_hematologic(923;0.208)		185			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.553G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640182	0.67244	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99962	-9.48;-9.48;-5.16	5.39	5.39	0.77823	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99981	0.9994	H	0.98594	4.275	0.45452	D	0.998429	D	0.89917	1.0	D	0.97110	1.0	D	0.97860	1.0280	9	0.87932	D	0	-16.4056	19.1602	0.93527	0.0:1.0:0.0:0.0	.	185	P12259	FA5_HUMAN	R	185;185;48	ENSP00000356771:G185R;ENSP00000356770:G185R;ENSP00000439664:G48R	ENSP00000356770:G185R	G	-	1	0	F5	167796449	1.000000	0.71417	0.996000	0.52242	0.079000	0.17450	7.598000	0.82745	2.508000	0.84585	0.585000	0.79938	GGG		PASS	0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		34	150	34	150	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180063614	180063614	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:180063614G>C	ENST00000367607.3	+	34	8792	c.8374G>C	c.(8374-8376)Gac>Cac	p.D2792H	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2792					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D2792H(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTTGGTGATGACCAAAAGAA	0.383																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(8374-8376)GAC>CAC		centrosome-associated protein 350							68.0	69.0	68.0					1																	180063614		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180063614G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8374G>C	1.37:g.180063614G>C	ENSP00000356579:p.Asp2792His					CEP350_uc009wxl.2_Missense_Mutation_p.D2791H|CEP350_uc001gnv.2_Missense_Mutation_p.D927H|CEP350_uc001gnw.1_Missense_Mutation_p.D549H|CEP350_uc001gnx.1_Missense_Mutation_p.D549H	p.D2792H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			34	8757	+			2792					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.8374G>C	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.96|12.96	2.093148|2.093148	0.36952|0.36952	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.58652|.	0.32|.	5.07|5.07	3.11|3.11	0.35812|0.35812	.|.	0.592407|.	0.14977|.	N|.	0.287469|.	T|.	0.43875|.	0.1267|.	L|L	0.54323|0.54323	1.7|1.7	0.27213|0.27213	N|N	0.959867|0.959867	P;P|.	0.47409|.	0.895;0.836|.	P;B|.	0.47673|.	0.554;0.395|.	T|.	0.29212|.	-1.0019|.	9|.	.|.	.|.	.|.	.|.	9.3921|9.3921	0.38378|0.38378	0.174:0.0:0.826:0.0|0.174:0.0:0.826:0.0	.|.	2792;2792|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	H|S	2792;256|966	ENSP00000356579:D2792H|.	.|.	D|X	+|+	1|2	0|2	CEP350|CEP350	178330237|178330237	0.998000|0.998000	0.40836|0.40836	0.619000|0.619000	0.29118|0.29118	0.812000|0.812000	0.45895|0.45895	2.009000|2.009000	0.40903|0.40903	0.579000|0.579000	0.29504|0.29504	0.591000|0.591000	0.81541|0.81541	GAC|TGA		PASS	0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		15	49	15	49	---	---	---	---
RGS1	5996	broad.mit.edu	37	1	192548421	192548421	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:192548421T>G	ENST00000367459.3	+	5	665	c.599T>G	c.(598-600)cTa>cGa	p.L200R		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	200	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.L187R(1)|p.L200R(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TTAAATCTTCTAAATGACCTG	0.418																																						uc001gsi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(598-600)CTA>CGA		regulator of G-protein signalling 1							53.0	56.0	55.0					1																	192548421		2203	4299	6502	SO:0001583	missense	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192548421T>G	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.599T>G	1.37:g.192548421T>G	ENSP00000356429:p.Leu200Arg						p.L200R	NM_002922	NP_002913	Q08116	RGS1_HUMAN			5	665	+		Breast(1374;0.188)	200			RGS.		B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	ENST00000367459.3	37	c.599T>G	CCDS1375.2	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875014	0.51695	.	.	ENSG00000090104	ENST00000367459	T	0.36340	1.26	5.68	5.68	0.88126	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.202536	0.35179	N	0.003393	T	0.43787	0.1263	M	0.91038	3.17	0.80722	D	1	P	0.34522	0.455	B	0.26310	0.068	T	0.55328	-0.8158	10	0.87932	D	0	.	9.5497	0.39301	0.0:0.0792:0.0:0.9208	.	200	Q08116	RGS1_HUMAN	R	200	ENSP00000356429:L200R	ENSP00000356429:L200R	L	+	2	0	RGS1	190815044	0.858000	0.29795	0.997000	0.53966	0.993000	0.82548	3.349000	0.52217	2.289000	0.77006	0.482000	0.46254	CTA		PASS	0.418	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		17	103	17	103	---	---	---	---
B3GALT2	8707	broad.mit.edu	37	1	193150016	193150016	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:193150016T>G	ENST00000367434.4	-	2	1432	c.677A>C	c.(676-678)aAt>aCt	p.N226T	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	226					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.N226T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						AATGGTCAAATTATAGTACGT	0.343																																						uc001gtc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(676-678)AAT>ACT		UDP-Gal:betaGlcNAc beta							117.0	116.0	117.0					1																	193150016		2203	4298	6501	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150016T>G	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.677A>C	1.37:g.193150016T>G	ENSP00000356404:p.Asn226Thr					CDC73_uc001gtb.2_Intron	p.N226T	NM_003783	NP_003774	O43825	B3GT2_HUMAN			2	1392	-			226			Lumenal (Potential).		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.677A>C	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803052	0.70682	.	.	ENSG00000162630	ENST00000367434	T	0.49139	0.79	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85352	0.1102	10	0.87932	D	0	.	15.9399	0.79745	0.0:0.0:0.0:1.0	.	226	O43825	B3GT2_HUMAN	T	226	ENSP00000356404:N226T	ENSP00000356404:N226T	N	-	2	0	B3GALT2	191416639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.164000	0.68074	0.528000	0.53228	AAT		PASS	0.343	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		35	105	35	105	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196871618	196871618	+	Intron	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:196871618C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.Y43*|CFHR4_ENST00000367416.2_Nonsense_Mutation_p.Y42*|CFHR4_ENST00000367418.2_Nonsense_Mutation_p.Y43*			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.Y43*(1)|p.Y42*(1)		large_intestine(2)|ovary(1)|skin(3)	6						GTAGACTATACTTTCCAGCAG	0.338																																						uc001gto.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(127-129)TAC>TAA		complement factor H-related 4 precursor							131.0	135.0	134.0					1																	196871618		2024	4235	6259	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196871618C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46967C>A	1.37:g.196871618C>A						CFHR4_uc009wyy.2_Nonsense_Mutation_p.Y42*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.Y43*	p.Y43*	NM_006684	NP_006675	Q92496	FHR4_HUMAN			2	198	+			43			Sushi 1.		Q14310|Q5T9T1	Nonsense_Mutation	SNP	ENST00000367421.3	37	c.129C>A		.	.	.	.	.	.	.	.	.	.	.	16.88	3.243591	0.58995	.	.	ENSG00000134365	ENST00000367416;ENST00000251424;ENST00000538553	.	.	.	3.41	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.663	0.17680	0.0:0.8488:0.0:0.1512	.	.	.	.	X	42;43;43	.	ENSP00000251424:Y43X	Y	+	3	2	CFHR4	195138241	0.649000	0.27322	0.981000	0.43875	0.091000	0.18340	0.102000	0.15272	1.847000	0.53656	0.543000	0.68304	TAC		PASS	0.338	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		46	194	46	194	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197021830	197021830	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:197021830G>A	ENST00000367412.1	-	9	1532	c.1489C>T	c.(1489-1491)Cca>Tca	p.P497S	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	497	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.P497S(1)		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						TCAGACAATGGGGTTAATGGA	0.318																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1489-1491)CCA>TCA		coagulation factor XIII B subunit precursor							107.0	107.0	107.0					1																	197021830		2203	4294	6497	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197021830G>A	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.1489C>T	1.37:g.197021830G>A	ENSP00000356382:p.Pro497Ser						p.P497S	NM_001994	NP_001985	P05160	F13B_HUMAN			9	1533	-			497			Sushi 8.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1489C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.285778	0.01387	.	.	ENSG00000143278	ENST00000367412	T	0.25579	1.79	5.47	-3.22	0.05125	Complement control module (1);	1.236490	0.06283	N	0.697754	T	0.08846	0.0219	N	0.11560	0.145	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.28933	-1.0028	10	0.07813	T	0.8	.	0.6588	0.00839	0.2558:0.1669:0.1511:0.4263	.	497	P05160	F13B_HUMAN	S	497	ENSP00000356382:P497S	ENSP00000356382:P497S	P	-	1	0	F13B	195288453	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.440000	0.06888	-0.379000	0.07906	0.655000	0.94253	CCA		PASS	0.318	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		33	104	33	104	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390692	197390692	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:197390692G>T	ENST00000367400.3	+	6	1869	c.1734G>T	c.(1732-1734)gtG>gtT	p.V578V	CRB1_ENST00000544212.1_Silent_p.V59V|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Silent_p.V466V|CRB1_ENST00000538660.1_Silent_p.V578V|CRB1_ENST00000535699.1_Silent_p.V509V|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	578	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		V -> E (in RP12). {ECO:0000269|PubMed:15459956}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V578V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGAGGCTGTGACCCTTACCT	0.443																																						uc001gtz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1732-1734)GTG>GTT		crumbs homolog 1 precursor							119.0	116.0	117.0					1																	197390692		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390692G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1734G>T	1.37:g.197390692G>T						CRB1_uc010poz.1_Silent_p.V509V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Silent_p.V466V|CRB1_uc010ppb.1_Silent_p.V578V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Silent_p.V59V|CRB1_uc001gub.1_Silent_p.V227V	p.V578V	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1869	+			578		V -> E (in RP12).	Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1734G>T	CCDS1390.1																																																																																				PASS	0.443	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		43	181	43	181	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198704329	198704329	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:198704329A>G	ENST00000367376.2	+	23	2516	c.2345A>G	c.(2344-2346)aAc>aGc	p.N782S	PTPRC_ENST00000352140.3_Missense_Mutation_p.N734S|PTPRC_ENST00000442510.2_Missense_Mutation_p.N784S|PTPRC_ENST00000594404.1_Missense_Mutation_p.N621S|PTPRC_ENST00000348564.6_Missense_Mutation_p.N623S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	782	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N782S(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAGATCAACCAGCACAAA	0.313																																						uc001gur.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2344-2346)AAC>AGC		protein tyrosine phosphatase, receptor type, C							74.0	71.0	72.0					1																	198704329		2203	4298	6501	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198704329A>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2345A>G	1.37:g.198704329A>G	ENSP00000356346:p.Asn782Ser					PTPRC_uc001gus.1_Missense_Mutation_p.N734S|PTPRC_uc001gut.1_Missense_Mutation_p.N621S|PTPRC_uc010ppg.1_Missense_Mutation_p.N718S	p.N782S	NM_002838	NP_002829	P08575	PTPRC_HUMAN			23	2525	+			782			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2345A>G		.	.	.	.	.	.	.	.	.	.	A	6.385	0.439083	0.12104	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000442510;ENST00000367367;ENST00000348564	D	0.82893	-1.66	5.1	-5.32	0.02722	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.942456	0.08796	N	0.892494	T	0.61702	0.2368	N	0.03238	-0.38	0.09310	N	1	B;B;B;B	0.26147	0.063;0.143;0.143;0.067	B;B;B;B	0.41946	0.03;0.259;0.371;0.222	T	0.58589	-0.7610	10	0.17369	T	0.5	.	0.0662	0.00018	0.2579:0.2316:0.1957:0.3148	.	718;623;734;782	F5GXZ3;B1ALS3;E9PC28;P08575	.;.;.;PTPRC_HUMAN	S	784;718;734;734;782;716;621	ENSP00000193532:N734S	ENSP00000306782:N621S	N	+	2	0	PTPRC	196970952	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.063000	0.11655	-0.977000	0.03537	-0.301000	0.09380	AAC		PASS	0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	37	16	37	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200635655	200635655	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:200635655C>G	ENST00000331314.6	-	2	427	c.214G>C	c.(214-216)Gtt>Ctt	p.V72L	DDX59_ENST00000367348.3_Missense_Mutation_p.V72L|RP11-92G12.3_ENST00000568695.1_lincRNA|DDX59_ENST00000447706.2_Missense_Mutation_p.V72L	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	72						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.V72L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTGAATGAACCTCTGCCAAC	0.542																																						uc009wzk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(214-216)GTT>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							135.0	118.0	124.0					1																	200635655		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635655C>G	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.214G>C	1.37:g.200635655C>G	ENSP00000330460:p.Val72Leu					DDX59_uc010ppl.1_Missense_Mutation_p.V72L	p.V72L	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			2	457	-			72					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.214G>C	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388122	0.25118	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.43688	1.55;1.55;1.92;0.94	5.06	4.15	0.48705	.	1.315770	0.04947	N	0.459604	T	0.43077	0.1231	L	0.54323	1.7	0.09310	N	1	B;B	0.20887	0.001;0.049	B;B	0.19666	0.001;0.026	T	0.35475	-0.9787	10	0.24483	T	0.36	-1.0859	11.7468	0.51825	0.0:0.9183:0.0:0.0817	.	72;72	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	L	72	ENSP00000394367:V72L;ENSP00000356317:V72L;ENSP00000330460:V72L;ENSP00000391312:V72L	ENSP00000330460:V72L	V	-	1	0	DDX59	198902278	0.000000	0.05858	0.013000	0.15412	0.093000	0.18481	0.184000	0.16939	1.148000	0.42385	0.555000	0.69702	GTT		PASS	0.542	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		33	143	33	143	---	---	---	---
MYOG	4656	broad.mit.edu	37	1	203054989	203054989	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:203054989C>G	ENST00000241651.4	-	1	175	c.101G>C	c.(100-102)gGc>gCc	p.G34A		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	34					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G34A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCGCTCGTAGCCTGGTGGTTC	0.642																																						uc001gzd.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(100-102)GGC>GCC		myogenin							50.0	47.0	48.0					1																	203054989		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054989C>G	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.101G>C	1.37:g.203054989C>G	ENSP00000241651:p.Gly34Ala						p.G34A	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	389	-			34					Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.101G>C	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	c	2.256	-0.370434	0.05069	.	.	ENSG00000122180	ENST00000241651	T	0.75589	-0.95	5.56	5.56	0.83823	Myogenic basic muscle-specific protein (2);	0.152106	0.64402	D	0.000019	T	0.56187	0.1968	N	0.16368	0.405	0.42141	D	0.991513	B	0.30179	0.271	B	0.34652	0.187	T	0.53662	-0.8407	10	0.06757	T	0.87	.	10.2466	0.43345	0.1371:0.7913:0.0:0.0717	.	34	P15173	MYOG_HUMAN	A	34	ENSP00000241651:G34A	ENSP00000241651:G34A	G	-	2	0	MYOG	201321612	0.906000	0.30813	0.996000	0.52242	0.727000	0.41649	1.416000	0.34759	2.620000	0.88729	0.558000	0.71614	GGC		PASS	0.642	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		30	76	30	76	---	---	---	---
ADORA1	134	broad.mit.edu	37	1	203134447	203134447	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:203134447C>T	ENST00000367236.4	+	3	1321	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.L134F|ADORA1_ENST00000309502.3_Missense_Mutation_p.L134F|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	134					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.L134F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CTGCTGGATCCTCTCCTTCGT	0.657																																						uc001gze.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(400-402)CTC>TTC		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						64.0	68.0	66.0					1																	203134447		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134447C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.400C>T	1.37:g.203134447C>T	ENSP00000356205:p.Leu134Phe					FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.L134F|ADORA1_uc010pqg.1_Missense_Mutation_p.L66F|ADORA1_uc009xak.1_Missense_Mutation_p.P59L|ADORA1_uc010pqh.1_Missense_Mutation_p.L167F	p.L134F	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	833	+			134			Helical; Name=4; (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.400C>T	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755082	0.31046	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.75050	-0.9;-0.9;-0.9	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.275058	0.36893	N	0.002358	T	0.74974	0.3787	L	0.27975	0.815	0.48087	D	0.999586	B;D;B	0.64830	0.123;0.994;0.091	B;P;B	0.57776	0.029;0.827;0.063	T	0.78580	-0.2149	10	0.87932	D	0	-36.5254	14.5614	0.68140	0.0:0.8097:0.1903:0.0	.	167;66;134	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	F	134	ENSP00000308549:L134F;ENSP00000356205:L134F;ENSP00000338435:L134F	ENSP00000308549:L134F	L	+	1	0	ADORA1	201401070	1.000000	0.71417	0.998000	0.56505	0.480000	0.33159	2.667000	0.46808	2.446000	0.82766	0.462000	0.41574	CTC		PASS	0.657	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		10	36	10	36	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215813994	215813994	+	Silent	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:215813994G>A	ENST00000307340.3	-	68	15260	c.14874C>T	c.(14872-14874)aaC>aaT	p.N4958N	USH2A_ENST00000366943.2_Silent_p.N4958N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4958					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)	p.N4958N(1)		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)		TCAGTTGGCCGTTCAGGAGGA	0.547										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14872-14874)AAC>AAT		usherin isoform B							140.0	112.0	121.0					1																	215813994		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:215813994G>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.14874C>T	1.37:g.215813994G>A		HNSCC(13;0.011)					p.N4958N	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	68	15261	-			4958			Fibronectin type-III 35.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14874C>T	CCDS31025.1																																																																																				PASS	0.547	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	64	25	64	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848658	215848658	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:215848658C>G	ENST00000307340.3	-	63	12981	c.12595G>C	c.(12595-12597)Gct>Cct	p.A4199P	USH2A_ENST00000366943.2_Missense_Mutation_p.A4199P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4199	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A4199P(1)		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)		TTTCCCCAAGCTTTTCCCTCG	0.418										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12595-12597)GCT>CCT		usherin isoform B							125.0	125.0	125.0					1																	215848658		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.chr1:215848658C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12595G>C	1.37:g.215848658C>G	ENSP00000305941:p.Ala4199Pro	HNSCC(13;0.011)					p.A4199P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12982	-			4199			Extracellular (Potential).|Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12595G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027473	0.19512	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;T	0.84873	-1.91;0.58	4.96	4.05	0.47172	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152448	0.29995	N	0.010663	T	0.78438	0.4283	L	0.46157	1.445	0.09310	N	1	B	0.18461	0.028	B	0.17433	0.018	T	0.64356	-0.6427	10	0.29301	T	0.29	.	8.8589	0.35245	0.0:0.7709:0.1498:0.0793	.	4199	O75445	USH2A_HUMAN	P	4199	ENSP00000305941:A4199P;ENSP00000355910:A4199P	ENSP00000305941:A4199P	A	-	1	0	USH2A	213915281	0.009000	0.17119	0.002000	0.10522	0.382000	0.30200	1.030000	0.30153	1.068000	0.40764	0.650000	0.86243	GCT		PASS	0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		42	160	42	160	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228563434	228563434	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:228563434C>A	ENST00000422127.1	+	98	22739	c.22695C>A	c.(22693-22695)atC>atA	p.I7565I	OBSCN_ENST00000366707.4_Silent_p.I5199I|OBSCN_ENST00000570156.2_Silent_p.I8522I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7565	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.I8277I(1)|p.I8147I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCGGATATCGGGGAGGTGT	0.617																																						uc009xez.1																			2	Substitution - coding silent(2)		lung(2)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(22693-22695)ATC>ATA		obscurin, cytoskeletal calmodulin and							58.0	70.0	66.0					1																	228563434		2089	4219	6308	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228563434C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22695C>A	1.37:g.228563434C>A						OBSCN_uc001hsr.1_Silent_p.I2194I	p.I7565I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			98	22739	+		Prostate(94;0.0405)	7565			Fibronectin type-III 4.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.22695C>A	CCDS58065.1																																																																																				PASS	0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	18	8	18	---	---	---	---
EGLN1	54583	broad.mit.edu	37	1	231503323	231503323	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:231503323T>C	ENST00000366641.3	-	4	4363	c.1208A>G	c.(1207-1209)tAt>tGt	p.Y403C	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1									p.Y403C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				ACCTGTTAGATATTTTACTTT	0.373																																						uc001huv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)TAT>TGT		egl nine homolog 1	Vitamin C(DB00126)						181.0	163.0	169.0					1																	231503323		2203	4300	6503	SO:0001583	missense	54583				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	g.chr1:231503323T>C	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.1208A>G	1.37:g.231503323T>C	ENSP00000355601:p.Tyr403Cys					EGLN1_uc001huu.3_Missense_Mutation_p.Y105C	p.Y403C	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN			4	4364	-		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)	403						Missense_Mutation	SNP	ENST00000366641.3	37	c.1208A>G	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	T	33	5.193734	0.94960	.	.	ENSG00000135766	ENST00000366641	D	0.87650	-2.28	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	D	0.92723	0.6193	10	0.87932	D	0	-11.0971	16.5582	0.84512	0.0:0.0:0.0:1.0	.	403	Q9GZT9	EGLN1_HUMAN	C	403	ENSP00000355601:Y403C	ENSP00000355601:Y403C	Y	-	2	0	EGLN1	229569946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	TAT		PASS	0.373	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		40	173	40	173	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236908036	236908036	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:236908036G>T	ENST00000366578.4	+	12	1532	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.D456Y|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	456					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.D456Y(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGCGCACCAGGACCGCGTGGA	0.647																																						uc001hyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1366-1368)GAC>TAC		actinin, alpha 2							61.0	53.0	56.0					1																	236908036		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236908036G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1366G>T	1.37:g.236908036G>T	ENSP00000355537:p.Asp456Tyr					ACTN2_uc001hyg.2_Missense_Mutation_p.D248Y|ACTN2_uc009xgi.1_Missense_Mutation_p.D456Y|ACTN2_uc010pxu.1_Missense_Mutation_p.D145Y|ACTN2_uc001hyh.2_Missense_Mutation_p.D144Y	p.D456Y	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		12	1570	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	456			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1366G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317431	0.95682	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.53857	0.6;0.6	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	M	0.92604	3.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;1.0;0.999	D	0.85213	0.1022	10	0.87932	D	0	.	19.0257	0.92931	0.0:0.0:1.0:0.0	.	241;456;226;456	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	Y	456;456;225	ENSP00000443495:D456Y;ENSP00000355537:D456Y	ENSP00000355537:D456Y	D	+	1	0	ACTN2	234974659	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.844000	0.99494	2.546000	0.85860	0.563000	0.77884	GAC		PASS	0.647	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		17	49	17	49	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236920893	236920893	+	Silent	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:236920893G>A	ENST00000366578.4	+	18	2428	c.2262G>A	c.(2260-2262)caG>caA	p.Q754Q	ACTN2_ENST00000542672.1_Silent_p.Q754Q|ACTN2_ENST00000546208.1_Silent_p.Q248Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	754	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.Q754Q(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCCAGGAGCAGATGAATGAGT	0.483																																						uc001hyf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2260-2262)CAG>CAA		actinin, alpha 2							140.0	119.0	126.0					1																	236920893		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236920893G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2262G>A	1.37:g.236920893G>A						ACTN2_uc001hyg.2_Silent_p.Q546Q|ACTN2_uc009xgi.1_Silent_p.Q754Q|ACTN2_uc010pxu.1_Silent_p.Q443Q|ACTN2_uc001hyh.2_Silent_p.Q442Q	p.Q754Q	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		18	2466	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	754			EF-hand 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.2262G>A	CCDS1613.1																																																																																				PASS	0.483	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		28	88	28	88	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370951	240370951	+	Missense_Mutation	SNP	C	C	T	rs150891575	byFrequency	TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:240370951C>T	ENST00000319653.9	+	5	3069	c.2839C>T	c.(2839-2841)Cct>Tct	p.P947S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	947	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)	p.P1090S(1)		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)			TCCTCCGCCCCCTCTACCCGG	0.692													C|||	6	0.00119808	0.0045	0.0	5008	,	,		7113	0.0		0.0	False		,,,				2504	0.0					uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2839-2841)CCT>TCT		formin 2		C	SER/PRO	9,4393		1,7,2193	25.0	31.0	29.0		2839	2.3	0.1	1	dbSNP_134	29	0,8588		0,0,4294	no	missense	FMN2	NM_020066.4	74	1,7,6487	TT,TC,CC		0.0,0.2045,0.0693	probably-damaging	947/1723	240370951	9,12981	2201	4294	6495	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.chr1:240370951C>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.2839C>T	1.37:g.240370951C>T	ENSP00000318884:p.Pro947Ser					FMN2_uc010pye.1_Missense_Mutation_p.P951S	p.P947S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3064	+	Ovarian(103;0.127)	all_cancers(173;0.013)	947			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2839C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493893	0.26774	0.002045	0.0	ENSG00000155816	ENST00000319653	T	0.56941	0.43	4.22	2.33	0.28932	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.64216	0.2578	M	0.78456	2.415	0.80722	D	1	D	0.64830	0.994	P	0.59761	0.863	T	0.62732	-0.6792	8	.	.	.	.	7.4855	0.27429	0.1643:0.7497:0.0:0.086	.	947	Q9NZ56	FMN2_HUMAN	S	947	ENSP00000318884:P947S	.	P	+	1	0	FMN2	238437574	0.212000	0.23540	0.089000	0.20774	0.009000	0.06853	2.942000	0.49018	0.539000	0.28788	-0.361000	0.07541	CCT		PASS	0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		17	45	17	45	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248031147	248031147	+	Splice_Site	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:248031147G>T	ENST00000366481.3	+	4	796	c.748G>T	c.(748-750)Ggt>Tgt	p.G250C	OR2W3_ENST00000537741.1_5'Flank	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	250						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G250C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTTTTCAGGGTGTGAGAGG	0.463																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(748-750)GGT>TGT		tripartite motif-containing 58							125.0	120.0	121.0					1																	248031147		2203	4300	6503	SO:0001630	splice_region_variant	25893					intracellular	zinc ion binding	g.chr1:248031147G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.748-1G>T	1.37:g.248031147G>T						OR2W3_uc001idp.1_5'Flank	p.G250C	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		4	796	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	250					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.748G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502437	0.44455	.	.	ENSG00000162722	ENST00000366481	T	0.04862	3.54	4.85	4.85	0.62838	.	0.578658	0.15618	N	0.253029	T	0.17152	0.0412	M	0.76574	2.34	0.38171	D	0.939349	D	0.58620	0.983	P	0.51866	0.682	T	0.01360	-1.1375	9	.	.	.	.	14.1913	0.65639	0.0:0.0:1.0:0.0	.	250	Q8NG06	TRI58_HUMAN	C	250	ENSP00000355437:G250C	.	G	+	1	0	TRIM58	246097770	1.000000	0.71417	0.983000	0.44433	0.176000	0.22953	2.300000	0.43620	2.617000	0.88574	0.563000	0.77884	GGT		PASS	0.463	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	Missense_Mutation	22	82	22	82	---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248059533	248059533	+	Silent	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr1:248059533G>C	ENST00000360358.3	+	1	645	c.645G>C	c.(643-645)ctG>ctC	p.L215L	OR2W3_ENST00000537741.1_Silent_p.L215L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L215L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTTTATCCTGCTCTCTTACA	0.582																																						uc001idp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(643-645)CTG>CTC		olfactory receptor, family 2, subfamily W,							201.0	181.0	187.0					1																	248059533		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059533G>C	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.645G>C	1.37:g.248059533G>C						OR2W3_uc010pzb.1_Silent_p.L215L	p.L215L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	914	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		215			Helical; Name=5; (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.645G>C	CCDS31099.1																																																																																				PASS	0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		68	231	68	231	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20174337	20174337	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:20174337T>G	ENST00000345530.3	-	7	743	c.628A>C	c.(628-630)Att>Ctt	p.I210L	WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Missense_Mutation_p.I210L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	210					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.I210L(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCAATGAATTCCAGCAATG	0.368																																						uc002rdi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)ATT>CTT		WD repeat domain 35 isoform 1							78.0	69.0	72.0					2																	20174337		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20174337T>G	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.628A>C	2.37:g.20174337T>G	ENSP00000314444:p.Ile210Leu					WDR35_uc002rdj.2_Missense_Mutation_p.I210L|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR	p.I210L	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			7	736	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		210					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.628A>C	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	T	8.804	0.933581	0.18206	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.62232	0.04;0.06	5.35	5.35	0.76521	.	0.093300	0.64402	D	0.000001	T	0.40694	0.1127	N	0.12663	0.25	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.11329	0.006;0.002	T	0.35992	-0.9766	10	0.05351	T	0.99	-23.7066	14.8256	0.70110	0.0:0.0:0.0:1.0	.	210;210	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	L	210	ENSP00000314444:I210L;ENSP00000281405:I210L	ENSP00000281405:I210L	I	-	1	0	WDR35	20037818	1.000000	0.71417	0.668000	0.29813	0.942000	0.58702	6.024000	0.70857	2.160000	0.67779	0.482000	0.46254	ATT		PASS	0.368	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		40	38	40	38	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20463042	20463042	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:20463042C>A	ENST00000361078.2	-	13	2159	c.2137G>T	c.(2137-2139)Gat>Tat	p.D713Y	PUM2_ENST00000536417.1_Missense_Mutation_p.D657Y|PUM2_ENST00000338086.5_Missense_Mutation_p.D713Y|PUM2_ENST00000319801.5_Missense_Mutation_p.D634Y|PUM2_ENST00000403432.1_Missense_Mutation_p.D713Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	713	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.D713Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGAAATCTTCCAATAAT	0.438																																						uc002rds.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2137-2139)GAT>TAT		pumilio homolog 2							67.0	68.0	68.0					2																	20463042		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463042C>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2137G>T	2.37:g.20463042C>A	ENSP00000354370:p.Asp713Tyr					PUM2_uc002rdq.1_Missense_Mutation_p.D90Y|PUM2_uc002rdt.1_Missense_Mutation_p.D713Y|PUM2_uc002rdr.2_Missense_Mutation_p.D573Y|PUM2_uc010yjy.1_Missense_Mutation_p.D634Y|PUM2_uc002rdu.1_Missense_Mutation_p.D713Y|PUM2_uc010yjz.1_Missense_Mutation_p.D652Y	p.D713Y	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			13	2160	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		713			PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.2137G>T		.	.	.	.	.	.	.	.	.	.	C	27.1	4.799704	0.90538	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.982;0.998;0.999;0.999	T	0.59225	-0.7494	10	0.87932	D	0	-13.327	19.8505	0.96738	0.0:1.0:0.0:0.0	.	657;634;713;713	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	Y	713;713;634;525;713;657	ENSP00000338173:D713Y;ENSP00000354370:D713Y;ENSP00000326746:D634Y;ENSP00000409905:D525Y;ENSP00000385992:D713Y;ENSP00000440093:D657Y	ENSP00000326746:D634Y	D	-	1	0	PUM2	20326523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.688000	0.91661	0.655000	0.94253	GAT		PASS	0.438	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		62	65	62	65	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32730095	32730095	+	Missense_Mutation	SNP	A	A	T	rs201464207		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:32730095A>T	ENST00000421745.2	+	50	9657	c.9523A>T	c.(9523-9525)Act>Tct	p.T3175S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3175					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.T3147S(1)|p.T3175S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGCAGTCCTACTGCCCAACC	0.408																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(9523-9525)ACT>TCT		baculoviral IAP repeat-containing 6							91.0	72.0	78.0					2																	32730095		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32730095A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9523A>T	2.37:g.32730095A>T	ENSP00000393596:p.Thr3175Ser						p.T3175S	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			50	9657	+	Acute lymphoblastic leukemia(172;0.155)		3175					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.9523A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	17.77	3.470716	0.63625	.	.	ENSG00000115760	ENST00000421745	T	0.76060	-0.99	6.17	5.03	0.67393	.	0.103991	0.64402	D	0.000004	T	0.59756	0.2217	N	0.16656	0.425	0.54753	D	0.999986	B	0.26400	0.148	B	0.28385	0.089	T	0.55159	-0.8184	10	0.33141	T	0.24	.	12.2882	0.54803	0.9345:0.0:0.0655:0.0	.	3175	Q9NR09	BIRC6_HUMAN	S	3175	ENSP00000393596:T3175S	ENSP00000393596:T3175S	T	+	1	0	BIRC6	32583599	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	9.339000	0.96797	1.161000	0.42604	-0.250000	0.11733	ACT		PASS	0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		20	33	20	33	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43927520	43927520	+	Missense_Mutation	SNP	G	G	T	rs199597847	byFrequency	TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:43927520G>T	ENST00000282406.4	+	8	1533	c.1423G>T	c.(1423-1425)Gct>Tct	p.A475S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	475					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.A475S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAATAGAAACGCTATAAGCAT	0.408																																						uc010yny.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1423-1425)GCT>TCT		pleckstrin homology domain containing, family H							163.0	150.0	155.0					2																	43927520		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43927520G>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1423G>T	2.37:g.43927520G>T	ENSP00000282406:p.Ala475Ser					PLEKHH2_uc002rte.3_Missense_Mutation_p.A475S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.A474S	p.A475S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			8	1506	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	475					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.1423G>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609346	0.87258	.	.	ENSG00000152527	ENST00000282406	T	0.74106	-0.81	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	L	0.52573	1.65	0.80722	D	1	P;D	0.89917	0.906;1.0	P;D	0.91635	0.698;0.999	T	0.76484	-0.2942	10	0.16420	T	0.52	-18.6467	20.0373	0.97568	0.0:0.0:1.0:0.0	.	475;475	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	S	475	ENSP00000282406:A475S	ENSP00000282406:A475S	A	+	1	0	PLEKHH2	43781024	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.151000	0.94674	2.734000	0.93682	0.655000	0.94253	GCT		PASS	0.408	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		150	165	150	165	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79350273	79350273	+	Splice_Site	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:79350273G>C	ENST00000233735.1	+	6	536		c.e6-1			NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha						positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.?(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						TTGACTTATAGGATTCCAGAA	0.413																																						uc002snz.2																			1	Unknown(1)		lung(1)		0						c.e6-1		regenerating islet-derived 1 alpha precursor							83.0	83.0	83.0					2																	79350273		2203	4300	6503	SO:0001630	splice_region_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350273G>C		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	ENST00000233735.1:c.434-1G>C	2.37:g.79350273G>C						REG1A_uc010ysd.1_Splice_Site_p.G145_splice	p.G145_splice	NM_002909	NP_002900	P05451	REG1A_HUMAN			6	537	+								P11379|Q4ZG28	Splice_Site	SNP	ENST00000233735.1	37	c.434_splice	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	G	9.559	1.117920	0.20877	.	.	ENSG00000115386	ENST00000233735	.	.	.	3.11	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8244	0.40903	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	REG1A	79203781	0.820000	0.29190	0.166000	0.22797	0.158000	0.22134	3.044000	0.49830	1.734000	0.51633	0.557000	0.71058	.		PASS	0.413	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	Intron	54	58	54	58	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	79971590	79971590	+	Silent	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:79971590A>G	ENST00000402739.4	+	2	185	c.180A>G	c.(178-180)ctA>ctG	p.L60L	CTNNA2_ENST00000541047.1_Silent_p.L60L|CTNNA2_ENST00000466387.1_Silent_p.L60L|CTNNA2_ENST00000540488.1_Silent_p.L60L|CTNNA2_ENST00000361291.4_Silent_p.L94L|CTNNA2_ENST00000496558.1_Silent_p.L60L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	60					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.L60L(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CCCATGTACTAGCTGCCTCTG	0.438																																						uc010ysh.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(178-180)CTA>CTG		catenin, alpha 2 isoform 1							76.0	77.0	77.0					2																	79971590		1923	4128	6051	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971590A>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.180A>G	2.37:g.79971590A>G						CTNNA2_uc010yse.1_Silent_p.L60L|CTNNA2_uc010ysf.1_Silent_p.L60L|CTNNA2_uc010ysg.1_Silent_p.L60L	p.L60L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			2	185	+			60					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.180A>G																																																																																					PASS	0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		23	29	23	29	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90260137	90260137	+	RNA	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:90260137C>T	ENST00000471857.1	+	0	421									immunoglobulin kappa variable 1D-8																		AAAGTGGGGTCCCATCAAGGT	0.468																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							130.0	138.0	136.0					2																	90260137		1868	4101	5969			0							g.chr2:90260137C>T	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260137C>T														30		+									RNA	SNP	ENST00000471857.1	37	c.4120C>T																																																																																					PASS	0.468	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		149	168	149	168	---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781149	96781149	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:96781149T>C	ENST00000409345.3	-	1	835	c.740A>G	c.(739-741)aAc>aGc	p.N247S		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	247					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.N247S(2)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGAGTGTCCGTTGACCTCTCT	0.647																																						uc002svi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(739-741)AAC>AGC		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						21.0	23.0	23.0					2																	96781149		1888	4121	6009	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781149T>C	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.740A>G	2.37:g.96781149T>C	ENSP00000387281:p.Asn247Ser						p.N247S	NM_000682	NP_000673	P18089	ADA2B_HUMAN			1	740	-			247			Cytoplasmic (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.740A>G	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	T	7.768	0.706900	0.15239	.	.	ENSG00000222040	ENST00000409345	T	0.61040	0.14	5.07	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46249	0.1383	L	0.42744	1.35	0.34576	D	0.713973	B	0.16603	0.018	B	0.21360	0.034	T	0.49986	-0.8880	9	0.54805	T	0.06	.	6.2651	0.20922	0.0:0.0856:0.1606:0.7537	.	247	P18089	ADA2B_HUMAN	S	247	ENSP00000387281:N247S	ENSP00000387281:N247S	N	-	2	0	ADRA2B	96144876	0.248000	0.23930	0.420000	0.26596	0.045000	0.14185	1.538000	0.36094	0.377000	0.24735	0.374000	0.22700	AAC		PASS	0.647	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			6	29	6	29	---	---	---	---
TMEM182	130827	broad.mit.edu	37	2	103414439	103414439	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:103414439G>A	ENST00000412401.2	+	4	654	c.449G>A	c.(448-450)gGa>gAa	p.G150E	TMEM182_ENST00000409173.1_Missense_Mutation_p.G107E|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Missense_Mutation_p.G54E	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	150						integral component of membrane (GO:0016021)		p.G150E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						AAAGCTGGGGGAGGCTCATAT	0.478																																						uc010fjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)GGA>GAA		transmembrane protein 182 precursor							90.0	93.0	92.0					2																	103414439		2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103414439G>A	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.449G>A	2.37:g.103414439G>A	ENSP00000394178:p.Gly150Glu					TMEM182_uc002tcc.3_Missense_Mutation_p.G107E|TMEM182_uc002tcd.3_Missense_Mutation_p.G54E|TMEM182_uc010ywe.1_RNA	p.G150E	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN			4	636	+			150			Cytoplasmic (Potential).		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.449G>A	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990505	0.93106	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.73897	-0.79;-0.79;-0.79	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.85737	0.5766	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86872	0.2036	10	0.87932	D	0	-22.8482	19.1731	0.93588	0.0:0.0:1.0:0.0	.	150;107	Q6ZP80;B8ZZ71	TM182_HUMAN;.	E	54;107;150	ENSP00000387258:G54E;ENSP00000387184:G107E;ENSP00000394178:G150E	ENSP00000387184:G107E	G	+	2	0	TMEM182	102780871	1.000000	0.71417	0.996000	0.52242	0.876000	0.50452	8.939000	0.92951	2.613000	0.88420	0.655000	0.94253	GGA		PASS	0.478	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		22	140	22	140	---	---	---	---
IL1A	3552	broad.mit.edu	37	2	113537242	113537242	+	Splice_Site	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:113537242T>C	ENST00000263339.3	-	5	476	c.321A>G	c.(319-321)gaA>gaG	p.E107E		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	107					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)	p.E107E(1)		breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	GCTTGATGATTTCTAAAACCA	0.383																																						uc002tig.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(319-321)GAA>GAG		interleukin 1, alpha proprotein							100.0	86.0	91.0					2																	113537242		2203	4300	6503	SO:0001630	splice_region_variant	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113537242T>C	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.320-1A>G	2.37:g.113537242T>C							p.E107E	NM_000575	NP_000566	P01583	IL1A_HUMAN			5	1281	-			107					Q53QF9|Q7RU02	Silent	SNP	ENST00000263339.3	37	c.321A>G	CCDS2101.1																																																																																				PASS	0.383	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575	Silent	25	73	25	73	---	---	---	---
IL37	27178	broad.mit.edu	37	2	113670672	113670672	+	Splice_Site	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:113670672G>A	ENST00000263326.3	+	1	124		c.e1+1		IL37_ENST00000353225.3_Splice_Site|IL37_ENST00000349806.3_Splice_Site|IL37_ENST00000352179.3_Splice_Site|IL37_ENST00000311328.2_5'Flank	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37						immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						TGCTTAGAAGGTAAGGTTCTT	0.463																																						uc002tij.2																			1	Unknown(1)		lung(1)		0						c.e1+1		interleukin 1 family, member 7 isoform 1							74.0	73.0	73.0					2																	113670672		2203	4300	6503	SO:0001630	splice_region_variant	27178				immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	g.chr2:113670672G>A	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.82+1G>A	2.37:g.113670672G>A						IL1F7_uc002tik.2_Splice_Site_p.G28_splice|IL1F7_uc002til.2_Splice_Site_p.D28_splice|IL1F7_uc002tim.2_Splice_Site_p.E28_splice|IL1F7_uc002tin.2_5'Flank	p.D28_splice	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN			1	124	+								B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Splice_Site	SNP	ENST00000263326.3	37	c.82_splice	CCDS2103.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540767	0.27563	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225	.	.	.	3.04	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8116	0.40826	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL37	113387143	0.755000	0.28372	0.998000	0.56505	0.105000	0.19272	1.422000	0.34826	2.011000	0.59026	0.651000	0.88453	.		PASS	0.463	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439	Intron	17	65	17	65	---	---	---	---
PAX8	7849	broad.mit.edu	37	2	113993138	113993138	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:113993138A>G	ENST00000429538.3	-	9	1114	c.920T>C	c.(919-921)aTa>aCa	p.I307T	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000348715.5_Intron|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263334.5_Intron|AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000437551.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	307					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.I307T(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TTCCTGCTTTATGGCGAAGGG	0.602			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	uc010yxt.1				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis 	E	PPARG		follicular thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(919-921)ATA>ACA		paired box 8 isoform PAX8A							48.0	57.0	54.0					2																	113993138		1990	4145	6135	SO:0001583	missense	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113993138A>G	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.920T>C	2.37:g.113993138A>G	ENSP00000395498:p.Ile307Thr					PAX8_uc010yxu.1_Intron|PAX8_uc010yxv.1_Intron|PAX8_uc002tjm.2_Intron|PAX8_uc002tjn.2_Intron|uc002tjp.2_RNA|LOC654433_uc002tjq.3_RNA|LOC654433_uc010fks.2_RNA|LOC654433_uc010fkt.2_RNA|LOC654433_uc002tjr.3_5'Flank	p.I307T	NM_003466	NP_003457	Q06710	PAX8_HUMAN			9	1086	-			307					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Missense_Mutation	SNP	ENST00000429538.3	37	c.920T>C	CCDS46398.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376437	0.61735	.	.	ENSG00000125618	ENST00000429538	D	0.96136	-3.92	5.58	5.58	0.84498	.	0.176253	0.48767	D	0.000161	D	0.90717	0.7087	L	0.40543	1.245	0.80722	D	1	P	0.43477	0.808	B	0.32289	0.143	D	0.90121	0.4199	9	.	.	.	.	13.6863	0.62517	1.0:0.0:0.0:0.0	.	307	Q06710	PAX8_HUMAN	T	307	ENSP00000395498:I307T	.	I	-	2	0	PAX8	113709609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.116000	0.64780	0.533000	0.62120	ATA		PASS	0.602	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			9	41	9	41	---	---	---	---
TMEM177	80775	broad.mit.edu	37	2	120438821	120438821	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:120438821G>T	ENST00000424086.1	+	2	865	c.392G>T	c.(391-393)tGg>tTg	p.W131L	TMEM177_ENST00000272521.6_Missense_Mutation_p.W131L|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.W131L	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	131						integral component of membrane (GO:0016021)		p.W131L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					ACAGTGGACTGGCGGAGCCCA	0.602																																						uc010flg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)TGG>TTG		transmembrane protein 177							138.0	157.0	150.0					2																	120438821		2203	4300	6503	SO:0001583	missense	80775					integral to membrane		g.chr2:120438821G>T	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.392G>T	2.37:g.120438821G>T	ENSP00000402661:p.Trp131Leu					TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.W131L|TMEM177_uc002tmd.2_Missense_Mutation_p.W131L|TMEM177_uc010flh.2_Intron	p.W131L	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN			2	865	+	Colorectal(110;0.196)		131					Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	c.392G>T	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520404	0.44866	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	T;T;T	0.15256	2.44;2.44;2.44	4.34	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	M	0.81341	2.54	0.80722	D	1	P	0.46142	0.873	P	0.45681	0.49	T	0.14172	-1.0482	10	0.87932	D	0	-8.1638	11.4407	0.50094	0.0:0.0:0.8195:0.1805	.	131	Q53S58	TM177_HUMAN	L	131	ENSP00000385966:W131L;ENSP00000402661:W131L;ENSP00000272521:W131L	ENSP00000272521:W131L	W	+	2	0	TMEM177	120155291	1.000000	0.71417	0.998000	0.56505	0.054000	0.15201	6.948000	0.75965	2.428000	0.82296	0.549000	0.68633	TGG		PASS	0.602	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		56	417	56	417	---	---	---	---
RND3	390	broad.mit.edu	37	2	151328205	151328205	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:151328205C>T	ENST00000375734.2	-	4	668	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	RND3_ENST00000409557.1_Missense_Mutation_p.R11Q|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.R140Q	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	140					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R140Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		AACATCTGTCCGCAGATCAGA	0.403																																						uc002txe.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(418-420)CGG>CAG		ras homolog gene family, member E precursor							102.0	96.0	98.0					2																	151328205		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151328205C>T		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.419G>A	2.37:g.151328205C>T	ENSP00000364886:p.Arg140Gln					RND3_uc002txf.2_Missense_Mutation_p.R139Q|RND3_uc002txg.2_Missense_Mutation_p.R140Q|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_Missense_Mutation_p.R11Q	p.R140Q	NM_005168	NP_005159	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	4	663	-			140					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.419G>A	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	C	37	5.994997	0.97184	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.77229	-1.08;-1.08;-1.08	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.91635	0.947;0.999;0.999	D	0.90716	0.4631	10	0.87932	D	0	-17.2601	18.9641	0.92689	0.0:1.0:0.0:0.0	.	11;139;140	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	Q	140;140;11	ENSP00000364886:R140Q;ENSP00000263895:R140Q;ENSP00000386576:R11Q	ENSP00000263895:R140Q	R	-	2	0	RND3	151036451	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.796000	0.85898	2.713000	0.92767	0.655000	0.94253	CGG		PASS	0.403	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		18	100	18	100	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162851470	162851470	+	Splice_Site	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:162851470C>T	ENST00000360534.3	-	25	2760		c.e25+1		DPP4_ENST00000491591.1_Intron	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTTTTCTATACCATTGCCTGG	0.463																																						uc002ubz.2																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e25+1		dipeptidylpeptidase IV	Sitagliptin(DB01261)						78.0	72.0	74.0					2																	162851470		2203	4300	6503	SO:0001630	splice_region_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162851470C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2199+1G>A	2.37:g.162851470C>T						DPP4_uc010fpb.2_Splice_Site_p.M409_splice	p.M733_splice	NM_001935	NP_001926	P27487	DPP4_HUMAN			25	2760	-								Q53TN1	Splice_Site	SNP	ENST00000360534.3	37	c.2199_splice	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768000	0.69878	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7417	0.96234	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP4	162559716	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.270000	0.78493	2.661000	0.90470	0.655000	0.94253	.		PASS	0.463	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		Intron	15	62	15	62	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166771833	166771833	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:166771833C>A	ENST00000243344.7	-	15	2153	c.2016G>T	c.(2014-2016)cgG>cgT	p.R672R		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	672					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.R672R(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGCTTAAAGCCCGTTCAATAT	0.398																																						uc002udk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(2014-2016)CGG>CGT		tetratricopeptide repeat domain 21B							138.0	141.0	140.0					2																	166771833		2203	4300	6503	SO:0001819	synonymous_variant	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166771833C>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2016G>T	2.37:g.166771833C>A							p.R672R	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			15	2149	-			672					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	ENST00000243344.7	37	c.2016G>T	CCDS33315.1																																																																																				PASS	0.398	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		40	309	40	309	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167301443	167301443	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:167301443C>G	ENST00000409855.1	-	12	1581	c.1455G>C	c.(1453-1455)tgG>tgC	p.W485C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	485					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.W485C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GAGAACAATTCCAGATCAAGA	0.303																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1453-1455)TGG>TGC		sodium channel, voltage-gated, type VII, alpha							75.0	73.0	73.0					2																	167301443		1803	4089	5892	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167301443C>G	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1455G>C	2.37:g.167301443C>G	ENSP00000386796:p.Trp485Cys					SCN7A_uc010fpm.1_RNA	p.W485C	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			12	1582	-			485						Missense_Mutation	SNP	ENST00000409855.1	37	c.1455G>C	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.567972	0.65651	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97256	-4.28;-4.31	5.29	5.29	0.74685	.	0.000000	0.47455	D	0.000231	D	0.98723	0.9571	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99470	1.0945	10	0.87932	D	0	.	16.4649	0.84076	0.0:1.0:0.0:0.0	.	485	Q01118	SCN7A_HUMAN	C	485	ENSP00000386796:W485C;ENSP00000413699:W485C	ENSP00000259060:W485C	W	-	3	0	SCN7A	167009689	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.651000	0.83577	2.743000	0.94032	0.650000	0.86243	TGG		PASS	0.303	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			5	59	5	59	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170061990	170061990	+	Splice_Site	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:170061990G>C	ENST00000263816.3	-	41	7999	c.7714C>G	c.(7714-7716)Ctg>Gtg	p.L2572V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2572					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.L2572V(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GACACCTACAGACTAGCATCC	0.468																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7714-7716)CTG>GTG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						109.0	103.0	105.0					2																	170061990		2203	4300	6503	SO:0001630	splice_region_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170061990G>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7715+1C>G	2.37:g.170061990G>C							p.L2572V	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	41	7927	-			2572			LDL-receptor class B 28.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7714C>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088831	0.36855	.	.	ENSG00000081479	ENST00000263816	D	0.96232	-3.95	6.03	5.15	0.70609	Six-bladed beta-propeller, TolB-like (1);	0.073703	0.56097	D	0.000031	D	0.98140	0.9386	H	0.95780	3.72	0.80722	D	1	D	0.62365	0.991	P	0.59643	0.861	D	0.98055	1.0390	10	0.46703	T	0.11	.	9.8745	0.41195	0.2062:0.0:0.7938:0.0	.	2572	P98164	LRP2_HUMAN	V	2572	ENSP00000263816:L2572V	ENSP00000263816:L2572V	L	-	1	2	LRP2	169770236	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	1.615000	0.36922	1.524000	0.49035	0.655000	0.94253	CTG		PASS	0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Missense_Mutation	24	123	24	123	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170070273	170070273	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:170070273T>A	ENST00000263816.3	-	36	6219	c.5934A>T	c.(5932-5934)gaA>gaT	p.E1978D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1978					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E1978D(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCTCATACTGTTCATCAGTAT	0.433																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(5932-5934)GAA>GAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						120.0	119.0	120.0					2																	170070273		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170070273T>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5934A>T	2.37:g.170070273T>A	ENSP00000263816:p.Glu1978Asp						p.E1978D	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	36	6147	-			1978			LDL-receptor class B 19.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.5934A>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	4.701	0.130295	0.08981	.	.	ENSG00000081479	ENST00000263816	D	0.91011	-2.77	5.96	-4.65	0.03339	Six-bladed beta-propeller, TolB-like (1);	0.418311	0.27185	N	0.020535	T	0.73721	0.3623	L	0.28274	0.84	0.34068	D	0.658072	P	0.40144	0.704	B	0.32022	0.139	T	0.72839	-0.4171	10	0.13470	T	0.59	.	5.2629	0.15584	0.5018:0.2374:0.0:0.2607	.	1978	P98164	LRP2_HUMAN	D	1978	ENSP00000263816:E1978D	ENSP00000263816:E1978D	E	-	3	2	LRP2	169778519	0.356000	0.24930	0.001000	0.08648	0.109000	0.19521	-0.118000	0.10692	-1.126000	0.02929	0.528000	0.53228	GAA		PASS	0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		46	181	46	181	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178576540	178576540	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:178576540G>A	ENST00000286063.6	-	13	2427	c.2110C>T	c.(2110-2112)Cat>Tat	p.H704Y	PDE11A_ENST00000449286.2_Missense_Mutation_p.H346Y|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.H454Y|PDE11A_ENST00000409504.1_Missense_Mutation_p.H346Y|AC012499.1_ENST00000412133.1_RNA|AC012499.1_ENST00000450227.1_RNA|PDE11A_ENST00000389683.3_Missense_Mutation_p.H260Y	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	704	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.H704Y(1)|p.H454Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TCGAGGTCATGACACAGGCAT	0.453									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(1)	4						c.(2110-2112)CAT>TAT		phosphodiesterase 11A isoform 4							140.0	115.0	124.0					2																	178576540		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178576540G>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2110C>T	2.37:g.178576540G>A	ENSP00000286063:p.His704Tyr					PDE11A_uc002ulp.2_Missense_Mutation_p.H260Y|PDE11A_uc002ulr.2_Missense_Mutation_p.H454Y|PDE11A_uc002uls.1_Missense_Mutation_p.H346Y|PDE11A_uc002ult.1_Missense_Mutation_p.H454Y|PDE11A_uc002ulu.1_Missense_Mutation_p.H346Y	p.H704Y	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		13	2428	-			704			Catalytic (By similarity).	Divalent metal cation 1 (By similarity).	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.2110C>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637873	0.87760	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.63	5.63	0.86233	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.091699	0.85682	D	0.000000	D	0.96821	0.8962	H	0.94582	3.555	0.80722	D	1	P;D	0.76494	0.946;0.999	P;D	0.69479	0.67;0.964	D	0.97303	0.9932	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	454;704	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	Y	704;454;346;260;346	ENSP00000286063:H704Y;ENSP00000351232:H454Y;ENSP00000386539:H346Y;ENSP00000374333:H260Y;ENSP00000390599:H346Y	ENSP00000286063:H704Y	H	-	1	0	PDE11A	178284786	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.805000	0.96524	0.655000	0.94253	CAT		PASS	0.453	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			9	59	9	59	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179433541	179433541	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:179433541G>A	ENST00000591111.1	-	276	72619	c.72395C>T	c.(72394-72396)gCt>gTt	p.A24132V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A16900V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16833V|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A16708V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A25773V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A23205V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24132	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A16708V(1)|p.A23203V(1)|p.A16833V(1)|p.A23205V(1)|p.A16900V(1)		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)			TTCATTTACAGCAACAACTCT	0.418																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	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.(69613-69615)GCT>GTT		titin isoform N2-A							92.0	90.0	91.0					2																	179433541		1891	4110	6001	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433541G>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.72395C>T	2.37:g.179433541G>A	ENSP00000465570:p.Ala24132Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A16900V|TTN_uc010zfi.1_Missense_Mutation_p.A16833V|TTN_uc010zfj.1_Missense_Mutation_p.A16708V	p.A23205V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69838	-			24132					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.69614C>T		.	.	.	.	.	.	.	.	.	.	G	15.77	2.932290	0.52866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91375	0.7279	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.93322	0.6693	9	0.87932	D	0	.	20.1306	0.97998	0.0:0.0:1.0:0.0	.	16708;16833;16900;24132	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	23205;16708;16900;16833;16706	ENSP00000343764:A23205V;ENSP00000434586:A16708V;ENSP00000340554:A16900V;ENSP00000352154:A16833V	ENSP00000340554:A16900V	A	-	2	0	TTN	179141787	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.751000	0.94390	0.655000	0.94253	GCT		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	93	37	93	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179499517	179499517	+	Silent	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:179499517C>G	ENST00000591111.1	-	179	37385	c.37161G>C	c.(37159-37161)ctG>ctC	p.L12387L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.L5155L|TTN_ENST00000359218.5_Silent_p.L5088L|TTN_ENST00000460472.2_Silent_p.L4963L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.L14028L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Silent_p.L11460L			Q8WZ42	TITIN_HUMAN	titin	12387					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)	p.L11460L(2)|p.L5088L(1)|p.L5155L(1)|p.L4963L(1)		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)			CAGCTTGGTCCAGTTTGACTT	0.398																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	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.(34378-34380)CTG>CTC		titin isoform N2-A							138.0	133.0	134.0					2																	179499517		1833	4095	5928	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179499517C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37161G>C	2.37:g.179499517C>G						TTN_uc010zfh.1_Silent_p.L5155L|TTN_uc010zfi.1_Silent_p.L5088L|TTN_uc010zfj.1_Silent_p.L4963L	p.L11460L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		178	34604	-			12387					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.34380G>C																																																																																					PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	173	38	173	---	---	---	---
GLS	2744	broad.mit.edu	37	2	191760377	191760377	+	Silent	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:191760377G>A	ENST00000320717.3	+	3	789	c.531G>A	c.(529-531)gaG>gaA	p.E177E	GLS_ENST00000338435.4_Silent_p.E177E	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	177					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.E177E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GGTTGAAAGAGTGTATGGATA	0.313																																						uc002usf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(529-531)GAG>GAA		glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						77.0	81.0	80.0					2																	191760377		2203	4300	6503	SO:0001819	synonymous_variant	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191760377G>A	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.531G>A	2.37:g.191760377G>A						GLS_uc002usd.2_3'UTR|GLS_uc002use.2_Silent_p.E177E	p.E177E	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		3	795	+			177					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Silent	SNP	ENST00000320717.3	37	c.531G>A	CCDS2308.1																																																																																				PASS	0.313	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			13	98	13	98	---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196545509	196545509	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:196545509C>G	ENST00000409086.3	+	2	1018	c.743C>G	c.(742-744)aCa>aGa	p.T248R	SLC39A10_ENST00000359634.5_Missense_Mutation_p.T248R|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	248					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.T248R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GAGGTTATTACACCAGGTTTT	0.408																																						uc002utg.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(742-744)ACA>AGA		solute carrier family 39 (zinc transporter),							106.0	101.0	103.0					2																	196545509		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196545509C>G		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.743C>G	2.37:g.196545509C>G	ENSP00000386766:p.Thr248Arg					SLC39A10_uc002uth.3_Missense_Mutation_p.T248R|SLC39A10_uc010zgp.1_Intron	p.T248R	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	957	+			248					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.743C>G	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467144	0.43839	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.68331	-0.32;-0.32	4.52	4.52	0.55395	.	0.554163	0.19075	N	0.123399	T	0.63283	0.2498	L	0.47716	1.5	0.80722	D	1	B	0.29432	0.244	B	0.32289	0.143	T	0.66380	-0.5938	10	0.66056	D	0.02	.	15.9591	0.79914	0.0:1.0:0.0:0.0	.	248	Q9ULF5	S39AA_HUMAN	R	248	ENSP00000386766:T248R;ENSP00000352655:T248R	ENSP00000352655:T248R	T	+	2	0	SLC39A10	196253754	0.116000	0.22171	0.559000	0.28332	0.984000	0.73092	2.195000	0.42677	2.510000	0.84645	0.591000	0.81541	ACA		PASS	0.408	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		19	72	19	72	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950309	198950309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:198950309G>T	ENST00000428675.1	+	2	2466	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.G592*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	690	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G592*(1)|p.G690*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCAAAACGGGGGATGTGGTTA	0.463																																						uc010fsp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2068-2070)GGA>TGA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						82.0	83.0	83.0					2																	198950309		2203	4299	6502	SO:0001587	stop_gained	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950309G>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2068G>T	2.37:g.198950309G>T	ENSP00000402861:p.Gly690*					PLCL1_uc002uuv.3_Nonsense_Mutation_p.G611*	p.G690*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2359	+			690			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	ENST00000428675.1	37	c.2068G>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	37	6.271390	0.97431	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	.	.	.	X	690;592	.	.	G	+	1	0	PLCL1	198658554	1.000000	0.71417	0.843000	0.33291	0.866000	0.49608	7.079000	0.76829	2.793000	0.96121	0.561000	0.74099	GGA		PASS	0.463	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		29	203	29	203	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200137379	200137379	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:200137379T>A	ENST00000417098.1	-	11	2573	c.1757A>T	c.(1756-1758)cAg>cTg	p.Q586L	SATB2_ENST00000260926.5_Missense_Mutation_p.Q586L|SATB2_ENST00000428695.1_Missense_Mutation_p.Q468L|SATB2_ENST00000443023.1_Missense_Mutation_p.Q527L|SATB2_ENST00000457245.1_Missense_Mutation_p.Q586L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	586					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.Q586L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGCTGAGACTGCTGTCTATG	0.478																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1756-1758)CAG>CTG		SATB homeobox 2							59.0	68.0	65.0					2																	200137379		2202	4299	6501	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137379T>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1757A>T	2.37:g.200137379T>A	ENSP00000401112:p.Gln586Leu					SATB2_uc010fsq.1_Missense_Mutation_p.Q468L|SATB2_uc002uuz.1_Missense_Mutation_p.Q586L|SATB2_uc002uva.1_Missense_Mutation_p.Q586L	p.Q586L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			11	2574	-			586					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1757A>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331314	0.24167	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.50001	0.77;0.77;0.77;0.76;0.77	5.28	2.77	0.32553	.	0.141168	0.49916	D	0.000131	T	0.22936	0.0554	N	0.08118	0	0.37895	D	0.93085	P;B	0.38504	0.634;0.026	B;B	0.32393	0.145;0.021	T	0.12243	-1.0555	10	0.23891	T	0.37	-4.6055	11.9194	0.52783	0.0:0.0:0.3085:0.6915	.	468;586	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	L	586;527;586;468;586	ENSP00000401112:Q586L;ENSP00000388764:Q527L;ENSP00000260926:Q586L;ENSP00000388581:Q468L;ENSP00000405420:Q586L	ENSP00000260926:Q586L	Q	-	2	0	SATB2	199845624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.561000	0.45905	0.969000	0.38237	0.528000	0.53228	CAG		PASS	0.478	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		13	118	13	118	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201436332	201436333	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:201436332_201436333AG>CT	ENST00000357799.4	+	7	1361_1362	c.1263_1264AG>CT	c.(1261-1266)tcAGat>tcCTat	p.D422Y		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	422					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.D422Y(2)|p.S421S(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAATAGTTCAGATGTCGATAT	0.347																																						uc002uvw.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|skin(2)	4						c.(1261-1263)TCA>TCC|c.(1264-1266)GAT>TAT		shugoshin-like 2 isoform 1																																				SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436332A>C|g.chr2:201436333G>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	Exception_encountered	2.37:g.201436332_201436333delinsCT	ENSP00000350447:p.Asp422Tyr					SGOL2_uc010zhd.1_Silent_p.S421S|SGOL2_uc010zhe.1_Silent_p.S421S|SGOL2_uc010zhd.1_Missense_Mutation_p.D422Y|SGOL2_uc010zhe.1_Missense_Mutation_p.D422Y	p.S421S|p.D422Y	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1376|1377	+			421|422					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent|Missense_Mutation	SNP	ENST00000357799.4	37	c.1263A>C|c.1264G>T	CCDS42796.1																																																																																				PASS	0.347	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		11	125|124	11	124	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201436386	201436386	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:201436386G>T	ENST00000357799.4	+	7	1415	c.1317G>T	c.(1315-1317)ctG>ctT	p.L439L		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	439					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.L439L(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTGATGTCCTGGATGGCAAAA	0.383																																						uc002uvw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1315-1317)CTG>CTT		shugoshin-like 2 isoform 1							94.0	93.0	93.0					2																	201436386		1840	4081	5921	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436386G>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1317G>T	2.37:g.201436386G>T						SGOL2_uc010zhd.1_Silent_p.L439L|SGOL2_uc010zhe.1_Silent_p.L439L	p.L439L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1430	+			439					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.1317G>T	CCDS42796.1																																																																																				PASS	0.383	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		51	128	51	128	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207170059	207170059	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:207170059G>T	ENST00000374423.3	+	5	1193	c.807G>T	c.(805-807)ttG>ttT	p.L269F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	269							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L269F(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGATAAGTTGGTTTTGTGGA	0.363																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(805-807)TTG>TTT		zinc finger, DBF-type containing 2							30.0	29.0	29.0					2																	207170059		1833	4073	5906	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170059G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.807G>T	2.37:g.207170059G>T	ENSP00000363545:p.Leu269Phe						p.L269F	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	1057	+			269					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.807G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197000	0.38806	.	.	ENSG00000204186	ENST00000374423	T	0.19105	2.17	4.92	1.67	0.24075	.	0.000000	0.28538	N	0.014989	T	0.26738	0.0654	L	0.53249	1.67	0.22017	N	0.999417	D	0.58620	0.983	P	0.56474	0.799	T	0.03957	-1.0989	10	0.48119	T	0.1	.	3.6212	0.08096	0.2181:0.0:0.4573:0.3246	.	269	Q9HCK1	ZDBF2_HUMAN	F	269	ENSP00000363545:L269F	ENSP00000363545:L269F	L	+	3	2	ZDBF2	206878304	0.982000	0.34865	0.286000	0.24833	0.183000	0.23260	2.032000	0.41127	1.057000	0.40506	0.650000	0.86243	TTG		PASS	0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		4	30	4	30	---	---	---	---
STK16	8576	broad.mit.edu	37	2	220110800	220110800	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:220110800G>T	ENST00000409638.3	+	2	251	c.79G>T	c.(79-81)Ggg>Tgg	p.G27W	GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409260.1_Missense_Mutation_p.G27W|GLB1L_ENST00000409640.1_5'Flank|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000486813.1_3'UTR|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.G27W|STK16_ENST00000409743.1_Missense_Mutation_p.G27W|STK16_ENST00000409516.3_Missense_Mutation_p.G27W	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	27	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G27W(1)		skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGAAACTGGGGGAGGGGTG	0.493																																					Pancreas(34;887 922 17165 36961 39622)	uc002vko.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(79-81)GGG>TGG		serine/threonine kinase 16							68.0	75.0	73.0					2																	220110800		1944	4140	6084	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220110800G>T	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.79G>T	2.37:g.220110800G>T	ENSP00000386928:p.Gly27Trp					GLB1L_uc010zkx.1_5'Flank|GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.G27W|STK16_uc010zky.1_Missense_Mutation_p.G27W|STK16_uc010fwf.2_Missense_Mutation_p.G27W|STK16_uc002vkp.2_Missense_Mutation_p.G27W|STK16_uc002vkr.2_5'UTR|STK16_uc002vkq.2_Missense_Mutation_p.G27W	p.G27W	NM_001008910	NP_001008910	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	236	+		Renal(207;0.0474)	27			Protein kinase.|ATP (By similarity).		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.79G>T	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587069	0.96578	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260;ENST00000409743	D;D;T;T;D	0.83075	-1.68;-1.68;-0.14;-0.9;-1.68	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.209775	0.49305	D	0.000146	D	0.95589	0.8566	H	0.98936	4.375	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.558;1.0;0.999	D;D;P;D;D	0.87578	0.994;0.998;0.455;0.994;0.985	D	0.96481	0.9356	10	0.87932	D	0	-20.4355	20.8794	0.99867	0.0:0.0:1.0:0.0	.	27;27;27;27;27	B4DXY6;B8ZZI5;B4DPS1;B8ZZN3;O75716	.;.;.;.;STK16_HUMAN	W	27	ENSP00000386928:G27W;ENSP00000379964:G27W;ENSP00000386309:G27W;ENSP00000387156:G27W;ENSP00000386553:G27W	ENSP00000379964:G27W	G	+	1	0	STK16	219819044	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.764000	0.91719	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.493	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			18	52	18	52	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234371076	234371076	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:234371076C>T	ENST00000264057.2	+	25	3076	c.3064C>T	c.(3064-3066)Cgt>Tgt	p.R1022C	DGKD_ENST00000409813.3_Missense_Mutation_p.R978C	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1022					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R1022C(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTCCATGGACCGTGTGTATGG	0.577																																						uc002vui.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(3064-3066)CGT>TGT		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						93.0	78.0	83.0					2																	234371076		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234371076C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3064C>T	2.37:g.234371076C>T	ENSP00000264057:p.Arg1022Cys					DGKD_uc002vuj.1_Missense_Mutation_p.R978C|DGKD_uc010fyi.1_RNA	p.R1022C	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	25	3076	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	1022					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.3064C>T	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231241	0.58777	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80393	-1.2;-1.37	4.41	3.45	0.39498	.	0.425528	0.20362	N	0.093827	T	0.78130	0.4235	L	0.54323	1.7	0.34781	D	0.734691	D;D	0.55385	0.971;0.966	P;B	0.46758	0.526;0.39	D	0.84576	0.0658	10	0.66056	D	0.02	.	10.1826	0.42977	0.3902:0.6098:0.0:0.0	.	978;1022	Q16760-2;Q16760	.;DGKD_HUMAN	C	1022;978	ENSP00000264057:R1022C;ENSP00000386455:R978C	ENSP00000264057:R1022C	R	+	1	0	DGKD	234035815	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	1.829000	0.39121	2.445000	0.82738	0.655000	0.94253	CGT		PASS	0.577	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		14	64	14	64	---	---	---	---
UGT1A10	54575	broad.mit.edu	37	2	234545877	234545877	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:234545877A>G	ENST00000344644.5	+	1	778	c.709A>G	c.(709-711)Acc>Gcc	p.T237A	UGT1A10_ENST00000373445.1_Missense_Mutation_p.T237A|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	237					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.T237A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	AATTCTCCAAACCCCTGTCAC	0.438																																						uc002vur.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(709-711)ACC>GCC		UDP glycosyltransferase 1 family, polypeptide							249.0	263.0	258.0					2																	234545877		2203	4300	6503	SO:0001583	missense	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545877A>G	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.709A>G	2.37:g.234545877A>G	ENSP00000343838:p.Thr237Ala					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.T237A	p.T237A	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	755	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	237					O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.709A>G	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	A	6.804	0.517337	0.13005	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.28	3.52	2.33	0.28932	.	.	.	.	.	T	0.51075	0.1653	L	0.42487	1.325	0.09310	N	1	B;B	0.31968	0.119;0.349	B;B	0.37692	0.144;0.256	T	0.49707	-0.8911	9	0.87932	D	0	.	7.7683	0.28993	0.8875:0.0:0.1125:0.0	.	237;237	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	A	237	ENSP00000343838:T237A;ENSP00000362544:T237A	ENSP00000343838:T237A	T	+	1	0	UGT1A10	234210616	0.038000	0.19896	0.001000	0.08648	0.175000	0.22909	3.058000	0.49939	0.540000	0.28808	0.333000	0.21579	ACC		PASS	0.438	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		164	522	164	522	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238277605	238277605	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr2:238277605C>T	ENST00000295550.4	-	10	4953	c.4501G>A	c.(4501-4503)Gac>Aac	p.D1501N	COL6A3_ENST00000347401.3_Missense_Mutation_p.D1300N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1295N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1301N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D894N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1295N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1501	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D1501N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTATGGCGTCCAGCACCGGG	0.557																																						uc002vwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4501-4503)GAC>AAC		alpha 3 type VI collagen isoform 1 precursor							48.0	49.0	49.0					2																	238277605		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277605C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4501G>A	2.37:g.238277605C>T	ENSP00000295550:p.Asp1501Asn					COL6A3_uc002vwo.2_Missense_Mutation_p.D1295N|COL6A3_uc010znj.1_Missense_Mutation_p.D894N	p.D1501N	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	4786	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1501			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4501G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	4.648	0.120524	0.08881	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.36	3.55	0.40652	von Willebrand factor, type A (3);	0.689257	0.12948	N	0.426001	T	0.65760	0.2722	N	0.16478	0.41	0.09310	N	1	B;B;B	0.23442	0.085;0.036;0.001	B;B;B	0.37091	0.241;0.051;0.003	T	0.56438	-0.7979	10	0.29301	T	0.29	.	6.6106	0.22749	0.0:0.5887:0.1953:0.216	.	894;1295;1501	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	1501;1300;1295;894;1295;1301	ENSP00000295550:D1501N;ENSP00000315609:D1300N;ENSP00000315873:D1295N;ENSP00000418285:D894N;ENSP00000386844:D1295N;ENSP00000295546:D1301N	ENSP00000295550:D1501N	D	-	1	0	COL6A3	237942344	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	0.092000	0.15066	0.625000	0.30304	0.655000	0.94253	GAC		PASS	0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		17	78	17	78	---	---	---	---
SSUH2	51066	broad.mit.edu	37	3	8671372	8671372	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:8671372C>T	ENST00000317371.4	-	14	1725	c.500G>A	c.(499-501)aGc>aAc	p.S167N	SSUH2_ENST00000544814.1_Missense_Mutation_p.S189N|SSUH2_ENST00000341795.3_Missense_Mutation_p.S167N|SSUH2_ENST00000415132.1_Missense_Mutation_p.S167N			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	167	Cys-rich.					cytoplasm (GO:0005737)		p.S167N(1)									GTGGCAGCCGCTGCACTTGTA	0.622																																						uc003bqu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(499-501)AGC>AAC		hypothetical protein LOC51066							83.0	88.0	86.0					3																	8671372		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8671372C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.500G>A	3.37:g.8671372C>T	ENSP00000324551:p.Ser167Asn					C3orf32_uc003bqz.2_Missense_Mutation_p.S167N|C3orf32_uc003bqt.2_Missense_Mutation_p.S116N|C3orf32_uc011atg.1_Missense_Mutation_p.S189N|C3orf32_uc003bqv.2_Missense_Mutation_p.S116N|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.S167N	p.S167N	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN			7	746	-			167			Cys-rich.		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.500G>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044072	0.55110	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.44482	0.92;0.92;0.92;0.93	4.75	4.75	0.60458	.	0.194935	0.53938	D	0.000041	T	0.42245	0.1194	M	0.72118	2.19	0.30243	N	0.794864	P;P	0.45715	0.865;0.607	B;B	0.39503	0.301;0.223	T	0.54330	-0.8310	10	0.41790	T	0.15	-17.6275	13.2679	0.60144	0.0:1.0:0.0:0.0	.	189;167	F5H2S5;Q9Y2M2	.;CC032_HUMAN	N	167;167;167;189	ENSP00000339150:S167N;ENSP00000324551:S167N;ENSP00000410757:S167N;ENSP00000439378:S189N	ENSP00000324551:S167N	S	-	2	0	C3orf32	8646372	0.983000	0.35010	0.923000	0.36655	0.880000	0.50808	2.770000	0.47662	2.189000	0.69895	0.467000	0.42956	AGC		PASS	0.622	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		9	56	9	56	---	---	---	---
C3orf62	375341	broad.mit.edu	37	3	49314221	49314221	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:49314221C>A	ENST00000343010.3	-	1	1121	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	29								p.D29Y(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGCCCGGTCAATGGCTGCA	0.517																																						uc003cwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GAC>TAC		hypothetical protein LOC375341							41.0	43.0	43.0					3																	49314221		2203	4300	6503	SO:0001583	missense	375341							g.chr3:49314221C>A	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.85G>T	3.37:g.49314221C>A	ENSP00000341139:p.Asp29Tyr					C3orf62_uc003cwm.2_5'Flank	p.D29Y	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	288	-			29					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.85G>T	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183669	0.78677	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.56611	0.46;0.45	4.79	4.79	0.61399	.	0.000000	0.53938	D	0.000046	T	0.61413	0.2345	L	0.34521	1.04	0.43667	D	0.996097	D	0.89917	1.0	D	0.91635	0.999	T	0.64179	-0.6468	10	0.72032	D	0.01	-26.6778	13.1994	0.59758	0.0:1.0:0.0:0.0	.	29	Q6ZUJ4	CC062_HUMAN	Y	29;27	ENSP00000341139:D29Y;ENSP00000413663:D27Y	ENSP00000341139:D29Y	D	-	1	0	C3orf62	49289225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.034000	0.57289	2.473000	0.83533	0.650000	0.86243	GAC		PASS	0.517	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		32	63	32	63	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126734135	126734135	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:126734135G>T	ENST00000393409.2	+	14	2986	c.2986G>T	c.(2986-2988)Gtc>Ttc	p.V996F	PLXNA1_ENST00000251772.4_Missense_Mutation_p.V973F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	996	IPT/TIG 2.				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)	p.V973F(1)		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)		GGCTGTGTCGGTCGGTGGCCG	0.657																																						uc003ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2917-2919)GTC>TTC		plexin A1							49.0	51.0	50.0					3																	126734135		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126734135G>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.2986G>T	3.37:g.126734135G>T	ENSP00000377061:p.Val996Phe						p.V973F	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	14	2921	+			996			IPT/TIG 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.2917G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	7.817	0.717007	0.15372	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.75704	-0.96;-0.96	4.37	-0.44	0.12261	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.232964	0.29900	N	0.010901	T	0.55465	0.1922	N	0.26162	0.8	0.27908	N	0.938726	B	0.06786	0.001	B	0.18263	0.021	T	0.40664	-0.9551	10	0.22109	T	0.4	.	8.9098	0.35546	0.7999:0.0:0.2001:0.0	.	996	Q9UIW2	PLXA1_HUMAN	F	996;973	ENSP00000377061:V996F;ENSP00000251772:V973F	ENSP00000251772:V973F	V	+	1	0	PLXNA1	128216825	0.890000	0.30428	0.037000	0.18230	0.611000	0.37282	1.700000	0.37815	0.034000	0.15491	0.491000	0.48974	GTC		PASS	0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		14	49	14	49	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126734145	126734145	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:126734145G>T	ENST00000393409.2	+	14	2996	c.2996G>T	c.(2995-2997)cGg>cTg	p.R999L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R976L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	999	IPT/TIG 2.				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)	p.R976L(1)		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)		GTCGGTGGCCGGCCCTGCTCC	0.667																																						uc003ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2926-2928)CGG>CTG		plexin A1							42.0	45.0	44.0					3																	126734145		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126734145G>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.2996G>T	3.37:g.126734145G>T	ENSP00000377061:p.Arg999Leu						p.R976L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	14	2931	+			999			IPT/TIG 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.2927G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393069	0.11638	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76839	-1.05;-1.05	4.2	4.2	0.49525	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	T	0.64713	0.2623	L	0.36672	1.1	0.48341	D	0.999638	B	0.09022	0.002	B	0.16289	0.015	T	0.57294	-0.7836	10	0.09590	T	0.72	.	11.3645	0.49664	0.0883:0.0:0.9117:0.0	.	999	Q9UIW2	PLXA1_HUMAN	L	999;976	ENSP00000377061:R999L;ENSP00000251772:R976L	ENSP00000251772:R976L	R	+	2	0	PLXNA1	128216835	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.802000	0.62539	2.173000	0.68751	0.313000	0.20887	CGG		PASS	0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		17	45	17	45	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140275475	140275475	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:140275475C>T	ENST00000458420.3	+	11	1985	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	599					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R599W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCGGGTGTGCGGCGCCTCAA	0.577										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1795-1797)CGG>TGG		calsyntenin 2 precursor							87.0	78.0	81.0					3																	140275475		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140275475C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1795C>T	3.37:g.140275475C>T	ENSP00000402460:p.Arg599Trp	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.R599W	p.R599W	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			11	1985	+			599			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1795C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971896	0.74246	.	.	ENSG00000158258	ENST00000458420	T	0.36699	1.24	5.39	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	M	0.85630	2.765	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.66736	-0.5848	9	.	.	.	-27.9673	12.0457	0.53479	0.4075:0.5925:0.0:0.0	.	599	Q9H4D0	CSTN2_HUMAN	W	599	ENSP00000402460:R599W	.	R	+	1	2	CLSTN2	141758165	0.995000	0.38212	1.000000	0.80357	0.935000	0.57460	1.830000	0.39131	1.389000	0.46526	0.563000	0.77884	CGG		PASS	0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		5	110	5	110	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128840	147128840	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:147128840C>G	ENST00000282928.4	+	1	1670	c.941C>G	c.(940-942)gCg>gGg	p.A314G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	314					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A314G(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AAGGTCTTCGCGCGCTCCGAG	0.562																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(940-942)GCG>GGG		zinc finger protein of the cerebellum 1							55.0	59.0	58.0					3																	147128840		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128840C>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.941C>G	3.37:g.147128840C>G	ENSP00000282928:p.Ala314Gly						p.A314G	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1660	+			314			C2H2-type 3.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.941C>G	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177200	0.78564	.	.	ENSG00000152977	ENST00000282928	D	0.96232	-3.95	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	L	0.38953	1.18	0.80722	D	1	B	0.14438	0.01	B	0.27262	0.078	D	0.92291	0.5841	10	0.87932	D	0	.	16.2006	0.82071	0.0:1.0:0.0:0.0	.	314	Q15915	ZIC1_HUMAN	G	314	ENSP00000282928:A314G	ENSP00000282928:A314G	A	+	2	0	ZIC1	148611530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.736000	0.68597	1.862000	0.54008	0.561000	0.74099	GCG		PASS	0.562	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		18	61	18	61	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165548316	165548316	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:165548316A>G	ENST00000264381.3	-	2	672	c.506T>C	c.(505-507)gTa>gCa	p.V169A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	169					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.V169A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CATTGACACTACAATAACTCT	0.418																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(505-507)GTA>GCA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						57.0	58.0	58.0					3																	165548316		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548316A>G	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.506T>C	3.37:g.165548316A>G	ENSP00000264381:p.Val169Ala					BCHE_uc003fen.3_Intron	p.V169A	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	666	-			169					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.506T>C	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863712	0.71949	.	.	ENSG00000114200	ENST00000264381	D	0.97256	-4.31	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.81942	2.565	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.99410	1.0930	10	0.87932	D	0	.	15.005	0.71504	1.0:0.0:0.0:0.0	.	169	P06276	CHLE_HUMAN	A	169	ENSP00000264381:V169A	ENSP00000264381:V169A	V	-	2	0	BCHE	167031010	1.000000	0.71417	0.931000	0.37212	0.941000	0.58515	9.194000	0.94962	2.139000	0.66308	0.533000	0.62120	GTA		PASS	0.418	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			31	148	31	148	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178952079	178952079	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:178952079A>T	ENST00000263967.3	+	21	3291	c.3134A>T	c.(3133-3135)gAt>gTt	p.D1045V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1045	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.D1045V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CAAATGAATGATGCACATCAT	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Substitution - Missense(2)	p.D1045N(2)	lung(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3133-3135)GAT>GTT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952079		1910	4128	6038	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952079A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3134A>T	3.37:g.178952079A>T	ENSP00000263967:p.Asp1045Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.D1045V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3291	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1045			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3134A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.956552	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.81247	-1.47	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	L	0.39326	1.205	0.80722	D	1	B	0.33583	0.418	B	0.38712	0.28	T	0.76567	-0.2912	10	0.42905	T	0.14	-23.278	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1045	P42336	PK3CA_HUMAN	V	1045	ENSP00000263967:D1045V	ENSP00000263967:D1045V	D	+	2	0	PIK3CA	180434773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	GAT		PASS	0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			19	118	19	118	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180334353	180334353	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:180334353A>G	ENST00000442201.2	-	18	2656	c.2537T>C	c.(2536-2538)aTa>aCa	p.I846T	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	846					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.I846T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTTTCTTCTATGATATCAAC	0.284																																						uc010hxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2536-2538)ATA>ACA		coiled-coil domain containing 39							59.0	55.0	57.0					3																	180334353		1832	4070	5902	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334353A>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2537T>C	3.37:g.180334353A>G	ENSP00000405708:p.Ile846Thr					CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron	p.I846T	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		18	2652	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		846					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2537T>C	CCDS46964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.010|0.010	-1.786580|-1.786580	0.00628|0.00628	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000489868;ENST00000442201|ENST00000473854	T|.	0.77750|.	-1.12|.	5.37|5.37	-1.34|-1.34	0.09143|0.09143	.|.	.|.	.|.	.|.	.|.	T|.	0.11707|.	0.0285|.	N|N	0.01277|0.01277	-0.915|-0.915	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.30297|.	-0.9983|.	9|.	0.11182|.	T|.	0.66|.	.|.	12.3005|12.3005	0.54872|0.54872	0.6495:0.0:0.3505:0.0|0.6495:0.0:0.3505:0.0	.|.	846|.	Q9UFE4|.	CCD39_HUMAN|.	T|Q	18;846|30	ENSP00000405708:I846T|.	ENSP00000405708:I846T|.	I|X	-|-	2|1	0|0	CCDC39|CCDC39	181817047|181817047	0.024000|0.024000	0.19004|0.19004	0.000000|0.000000	0.03702|0.03702	0.259000|0.259000	0.26198|0.26198	0.240000|0.240000	0.18042|0.18042	-0.495000|-0.495000	0.06659|0.06659	-0.385000|-0.385000	0.06624|0.06624	ATA|TAG		PASS	0.284	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		11	48	11	48	---	---	---	---
DLG1	1739	broad.mit.edu	37	3	196793577	196793577	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:196793577T>A	ENST00000419354.1	-	21	2415	c.2129A>T	c.(2128-2130)gAa>gTa	p.E710V	DLG1_ENST00000448528.2_Missense_Mutation_p.E710V|DLG1_ENST00000357674.4_Missense_Mutation_p.E699V|DLG1_ENST00000443183.1_Missense_Mutation_p.E606V|DLG1_ENST00000346964.2_Missense_Mutation_p.E732V|DLG1_ENST00000452595.1_Missense_Mutation_p.E594V|DLG1_ENST00000314062.3_Missense_Mutation_p.E659V|DLG1_ENST00000450955.1_Missense_Mutation_p.E699V|DLG1_ENST00000422288.1_Missense_Mutation_p.E659V|DLG1_ENST00000392382.2_Missense_Mutation_p.E677V			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	710					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.E732V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCACAAACCTTCTTGTTGATT	0.308																																						uc003fxo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2128-2130)GAA>GTA		discs, large homolog 1 isoform 1							91.0	97.0	95.0					3																	196793577		2203	4296	6499	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196793577T>A	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2129A>T	3.37:g.196793577T>A	ENSP00000407531:p.Glu710Val					DLG1_uc011bub.1_Missense_Mutation_p.E606V|DLG1_uc011buc.1_Missense_Mutation_p.E594V|DLG1_uc011bud.1_Missense_Mutation_p.E393V|DLG1_uc003fxn.3_Missense_Mutation_p.E732V|DLG1_uc011bue.1_Missense_Mutation_p.E698V|DLG1_uc010ial.2_Missense_Mutation_p.E710V	p.E710V	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	21	2319	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	710					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.2129A>T	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247529	0.59103	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	D;D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.46	5.46	0.80206	Src homology-3 domain (1);	0.122857	0.53938	D	0.000046	D	0.88463	0.6443	M	0.83483	2.645	0.80722	D	1	B;P;P;P;P	0.43701	0.34;0.563;0.472;0.633;0.815	B;B;B;B;P	0.50440	0.244;0.21;0.308;0.15;0.641	D	0.89552	0.3800	10	0.56958	D	0.05	.	14.3667	0.66810	0.0:0.0:0.0:1.0	.	699;594;606;710;732	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	V	732;723;699;697;659;710;594;659;710;606;677;699	ENSP00000345731:E732V;ENSP00000350303:E699V;ENSP00000321087:E659V;ENSP00000407531:E710V;ENSP00000398939:E594V;ENSP00000413238:E659V;ENSP00000391732:E710V;ENSP00000396658:E606V;ENSP00000376187:E677V;ENSP00000411278:E699V	ENSP00000321087:E659V	E	-	2	0	DLG1	198277974	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.668000	0.83897	2.069000	0.61940	0.383000	0.25322	GAA		PASS	0.308	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		12	128	12	128	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	437083	437083	+	Silent	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:437083A>G	ENST00000338977.5	-	2	1185	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.C391C			Q8TF20	ZN721_HUMAN	zinc finger protein 721	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C391C(1)|p.C161C(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CACACTCTTCACATTTGTAAG	0.423																																						uc003gag.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1171-1173)TGT>TGC		zinc finger protein 721							86.0	92.0	90.0					4																	437083		2132	4267	6399	SO:0001819	synonymous_variant	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:437083A>G	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1137T>C	4.37:g.437083A>G						ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.C423C|ZNF721_uc010ibe.2_Silent_p.C379C	p.C391C	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	1864	-			391					Q69YG7	Silent	SNP	ENST00000338977.5	37	c.1173T>C																																																																																					PASS	0.423	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		9	137	9	137	---	---	---	---
STK32B	55351	broad.mit.edu	37	4	5141686	5141686	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:5141686A>T	ENST00000512636.1	+	0	313				STK32B_ENST00000510398.1_De_novo_Start_OutOfFrame|STK32B_ENST00000282908.5_Splice_Site_p.K36M					serine/threonine kinase 32B									p.K36M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGTTTTGGAAAGGTAAGAATA	0.403																																						uc003gih.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(106-108)AAG>ATG		serine/threonine kinase 32B							184.0	188.0	186.0					4																	5141686		2203	4300	6503			55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5141686A>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000512636.1:c.-35A>T	4.37:g.5141686A>T						STK32B_uc010ida.1_Translation_Start_Site	p.K36M	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			2	171	+			36			ATP (By similarity).|Protein kinase.			Missense_Mutation	SNP	ENST00000512636.1	37	c.107A>T		.	.	.	.	.	.	.	.	.	.	A	17.73	3.461232	0.63513	.	.	ENSG00000152953	ENST00000282908	T	0.68181	-0.31	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41938	U	0.000794	T	0.80003	0.4544	M	0.79343	2.45	0.80722	D	1	D	0.61697	0.99	D	0.64877	0.93	T	0.82637	-0.0359	10	0.87932	D	0	.	12.3319	0.55043	1.0:0.0:0.0:0.0	.	36	Q9NY57	ST32B_HUMAN	M	36	ENSP00000282908:K36M	ENSP00000282908:K36M	K	+	2	0	STK32B	5192587	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.802000	0.75175	2.156000	0.67533	0.533000	0.62120	AAG		PASS	0.403	STK32B-005	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000358209.3	NM_018401		34	217	34	217	---	---	---	---
FBXL5	26234	broad.mit.edu	37	4	15627424	15627424	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:15627424T>C	ENST00000341285.3	-	9	1425	c.1301A>G	c.(1300-1302)aAa>aGa	p.K434R	FBXL5_ENST00000412094.2_Missense_Mutation_p.K417R|FBXL5_ENST00000382358.4_Missense_Mutation_p.K308R	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	434					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)	p.K434R(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						GGTAATGTCTTTATTTTTCCA	0.393																																						uc003goc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1300-1302)AAA>AGA		F-box and leucine-rich repeat protein 5 isoform							122.0	115.0	117.0					4																	15627424		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15627424T>C	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1301A>G	4.37:g.15627424T>C	ENSP00000344866:p.Lys434Arg					FBXL5_uc010idw.1_Missense_Mutation_p.K347R|FBXL5_uc003gob.1_Missense_Mutation_p.K308R|FBXL5_uc010idx.1_Missense_Mutation_p.K433R|FBXL5_uc003god.1_Missense_Mutation_p.K417R|FBXL5_uc010idy.1_Missense_Mutation_p.K434R	p.K434R	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN			9	1404	-			434					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1301A>G	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	T	8.465	0.856316	0.17106	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.30981	1.51;1.52;1.51	5.92	4.75	0.60458	.	0.418466	0.30201	N	0.010173	T	0.17450	0.0419	N	0.17082	0.46	0.24242	N	0.995354	B;B	0.12013	0.005;0.003	B;B	0.09377	0.004;0.002	T	0.20140	-1.0284	10	0.20519	T	0.43	-9.0662	9.383	0.38325	0.0:0.1533:0.0:0.8467	.	417;434	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	R	434;417;308	ENSP00000344866:K434R;ENSP00000408679:K417R;ENSP00000371795:K308R	ENSP00000344866:K434R	K	-	2	0	FBXL5	15236522	1.000000	0.71417	0.985000	0.45067	0.905000	0.53344	1.016000	0.29976	1.068000	0.40764	0.528000	0.53228	AAA		PASS	0.393	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			33	197	33	197	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42964979	42964979	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:42964979C>T	ENST00000399770.2	+	2	455	c.455C>T	c.(454-456)aCc>aTc	p.T152I		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	152	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.T152I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCGGACAACCTTTGAAAGA	0.388																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)ACC>ATC		glutaredoxin, cysteine rich 1							176.0	171.0	173.0					4																	42964979		1869	4099	5968	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42964979C>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.455C>T	4.37:g.42964979C>T	ENSP00000382670:p.Thr152Ile						p.T152I	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			2	455	+			152			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.455C>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746117	0.89663	.	.	ENSG00000215203	ENST00000399770	T	0.75938	-0.98	5.78	5.78	0.91487	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000001	D	0.88948	0.6576	M	0.89353	3.025	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90041	0.4142	10	0.66056	D	0.02	-19.8219	18.9873	0.92777	0.0:1.0:0.0:0.0	.	152	A8MXD5	GRCR1_HUMAN	I	152	ENSP00000382670:T152I	ENSP00000382670:T152I	T	+	2	0	GRXCR1	42659736	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.724000	0.93272	0.655000	0.94253	ACC		PASS	0.388	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		40	281	40	281	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177016	44177016	+	Missense_Mutation	SNP	C	C	A	rs146165410		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:44177016C>A	ENST00000360029.3	-	2	1496	c.1213G>T	c.(1213-1215)Gac>Tac	p.D405Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	405					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.D405Y(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGCGTTTGTCTGGTGGGGGT	0.478										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1213-1215)GAC>TAC		potassium channel tetramerisation domain							201.0	207.0	205.0					4																	44177016		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177016C>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1213G>T	4.37:g.44177016C>A	ENSP00000353129:p.Asp405Tyr	HNSCC(17;0.042)					p.D405Y	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1497	-			405					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1213G>T	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.23|13.23	2.175386|2.175386	0.38413|0.38413	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000360029|ENST00000515268	T|.	0.40476|.	1.03|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.226336|.	0.30252|.	N|.	0.010049|.	T|T	0.49592|0.49592	0.1566|0.1566	N|N	0.14661|0.14661	0.345|0.345	0.51482|0.51482	D|D	0.999924|0.999924	D|.	0.67145|.	0.996|.	P|.	0.54372|.	0.75|.	T|T	0.43718|0.43718	-0.9374|-0.9374	10|5	0.87932|.	D|.	0|.	.|.	17.2866|17.2866	0.87143|0.87143	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs36002024|rs36002024	405|.	Q6ZWB6|.	KCTD8_HUMAN|.	Y|H	405|140	ENSP00000353129:D405Y|.	ENSP00000353129:D405Y|.	D|Q	-|-	1|3	0|2	KCTD8|KCTD8	43871773|43871773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.069000|0.069000	0.16628|0.16628	7.189000|7.189000	0.77747|0.77747	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	GAC|CAG		PASS	0.478	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			108	319	108	319	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57173815	57173815	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:57173815A>T	ENST00000504228.1	+	3	340	c.235A>T	c.(235-237)Atg>Ttg	p.M79L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.M79L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.M72L			Q6ZU35	K1211_HUMAN	KIAA1211	79								p.M79L(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GACCAGTCCCATGGAAATTGT	0.502																																						uc003hbk.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(235-237)ATG>TTG		hypothetical protein LOC57482							87.0	87.0	87.0					4																	57173815		1988	4161	6149	SO:0001583	missense	57482							g.chr4:57173815A>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.235A>T	4.37:g.57173815A>T	ENSP00000423366:p.Met79Leu					KIAA1211_uc010iha.2_Missense_Mutation_p.M72L|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank	p.M79L	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			5	626	+	Glioma(25;0.08)|all_neural(26;0.101)		79					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.235A>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147780	0.37923	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.10960	2.82;2.82;2.82	5.5	1.82	0.25136	.	.	.	.	.	T	0.10723	0.0262	L	0.45581	1.43	0.28824	N	0.897539	B;B	0.20988	0.05;0.05	B;B	0.17722	0.019;0.019	T	0.14364	-1.0475	9	0.62326	D	0.03	-20.5599	8.8242	0.35045	0.7852:0.0:0.2148:0.0	.	72;79	F5H1N7;Q6ZU35	.;K1211_HUMAN	L	79;79;72	ENSP00000264229:M79L;ENSP00000423366:M79L;ENSP00000444006:M72L	ENSP00000264229:M79L	M	+	1	0	KIAA1211	56868572	0.467000	0.25831	0.993000	0.49108	0.942000	0.58702	0.631000	0.24568	0.394000	0.25230	0.482000	0.46254	ATG		PASS	0.502	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	49	7	49	---	---	---	---
SRP72	6731	broad.mit.edu	37	4	57350915	57350915	+	Missense_Mutation	SNP	G	G	T	rs149517121		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:57350915G>T	ENST00000342756.5	+	10	1692	c.971G>T	c.(970-972)cGc>cTc	p.R324L	SRP72_ENST00000510663.1_Missense_Mutation_p.R263L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	324					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.R324L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GAACAATGCCGCAAAATATCT	0.418																																						uc003hbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(970-972)CGC>CTC		signal recognition particle 72kDa							127.0	121.0	123.0					4																	57350915		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57350915G>T	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.971G>T	4.37:g.57350915G>T	ENSP00000342181:p.Arg324Leu					SRP72_uc010ihe.2_Missense_Mutation_p.R263L|SRP72_uc003hbw.1_Missense_Mutation_p.R85L	p.R324L	NM_006947	NP_008878	O76094	SRP72_HUMAN			10	1011	+	Glioma(25;0.08)|all_neural(26;0.101)		324					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.971G>T	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060785	0.76074	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.73047	-0.71;1.52	5.51	4.66	0.58398	.	0.154035	0.64402	D	0.000014	T	0.67316	0.2880	L	0.51914	1.62	0.51482	D	0.999927	P;P;P	0.46395	0.873;0.793;0.877	P;P;P	0.47044	0.524;0.535;0.505	T	0.62623	-0.6815	10	0.21540	T	0.41	.	11.3391	0.49523	0.088:0.0:0.912:0.0	.	263;324;324	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	L	324;269;263;85	ENSP00000342181:R324L;ENSP00000424576:R263L	ENSP00000342181:R324L	R	+	2	0	SRP72	57045672	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.353000	0.66034	2.570000	0.86706	0.655000	0.94253	CGC		PASS	0.418	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			65	135	65	135	---	---	---	---
PPP3CA	5530	broad.mit.edu	37	4	101984428	101984428	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:101984428C>A	ENST00000394854.3	-	9	1725	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	PPP3CA_ENST00000507176.1_Missense_Mutation_p.D250Y|PPP3CA_ENST00000523694.2_Missense_Mutation_p.D281Y|PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000512215.1_Missense_Mutation_p.D116Y|PPP3CA_ENST00000394853.4_Missense_Mutation_p.D348Y	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	348					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.D348Y(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GTAAAAACATCCATGAAATTT	0.363																																						uc011cen.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1042-1044)GAT>TAT		protein phosphatase 3, catalytic subunit, alpha							100.0	96.0	98.0					4																	101984428		2203	4299	6502	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101984428C>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1042G>T	4.37:g.101984428C>A	ENSP00000378323:p.Asp348Tyr					PPP3CA_uc003hvu.2_Missense_Mutation_p.D348Y|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Missense_Mutation_p.D335Y|PPP3CA_uc003hvs.2_Missense_Mutation_p.D281Y|PPP3CA_uc010ilk.2_Missense_Mutation_p.D116Y	p.D348Y	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	9	1717	-			348					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1042G>T	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855755	0.91355	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.35	5.35	0.76521	.	0.057219	0.64402	D	0.000002	T	0.38957	0.1060	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.968;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.997;0.833;0.998;0.983;0.99	T	0.47548	-0.9109	10	0.87932	D	0	-17.9564	19.0665	0.93113	0.0:1.0:0.0:0.0	.	348;116;348;250;281	Q08209;A8W6Z8;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	Y	116;348;348;250;281	ENSP00000422781:D116Y;ENSP00000378323:D348Y;ENSP00000378322:D348Y;ENSP00000422990:D250Y;ENSP00000429350:D281Y	ENSP00000378322:D348Y	D	-	1	0	PPP3CA	102203451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.513000	0.84729	0.655000	0.94253	GAT		PASS	0.363	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		23	47	23	47	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102946403	102946403	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:102946403G>T	ENST00000322953.4	+	9	1605	c.1331G>T	c.(1330-1332)gGg>gTg	p.G444V	BANK1_ENST00000428908.1_Missense_Mutation_p.G311V|BANK1_ENST00000444316.2_Missense_Mutation_p.G414V|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Missense_Mutation_p.G311V|BANK1_ENST00000504592.1_Missense_Mutation_p.G429V|RP11-498M5.2_ENST00000505091.1_RNA	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	444					B cell activation (GO:0042113)			p.G444V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAGACATACGGGCAGAGTGCA	0.453																																						uc003hvy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1330-1332)GGG>GTG		B-cell scaffold protein with ankyrin repeats 1							198.0	195.0	196.0					4																	102946403		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102946403G>T	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1331G>T	4.37:g.102946403G>T	ENSP00000320509:p.Gly444Val					BANK1_uc003hvx.3_Missense_Mutation_p.G429V|BANK1_uc010ill.2_Missense_Mutation_p.G311V|BANK1_uc003hvz.3_Missense_Mutation_p.G414V	p.G444V	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	9	1605	+		Hepatocellular(203;0.217)	444					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.1331G>T	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	9.580	1.123366	0.20959	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.16897	2.99;2.99;2.31;2.31;2.99	5.05	0.613	0.17597	.	1.042900	0.07536	N	0.913032	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.13407	0.009;0.009;0.009	T	0.41034	-0.9531	10	0.22109	T	0.4	.	1.5212	0.02516	0.2397:0.162:0.4342:0.1641	.	311;444;429	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	V	429;444;311;311;414	ENSP00000421443:G429V;ENSP00000320509:G444V;ENSP00000412748:G311V;ENSP00000422314:G311V;ENSP00000388817:G414V	ENSP00000320509:G444V	G	+	2	0	BANK1	103165426	0.001000	0.12720	0.005000	0.12908	0.100000	0.18952	0.426000	0.21363	0.150000	0.19136	-0.282000	0.10007	GGG		PASS	0.453	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		43	133	43	133	---	---	---	---
ELOVL6	79071	broad.mit.edu	37	4	110980846	110980846	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:110980846G>T	ENST00000394607.3	-	4	449	c.286C>A	c.(286-288)Cag>Aag	p.Q96K	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Missense_Mutation_p.Q96K			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	96					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.Q96K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		CAAACTGACTGCTTCAGGCCT	0.413																																						uc003hzz.2																			1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(286-288)CAG>AAG		elongation of very long chain fatty acids-like							94.0	84.0	88.0					4																	110980846		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110980846G>T	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.286C>A	4.37:g.110980846G>T	ENSP00000378105:p.Gln96Lys					ELOVL6_uc003iaa.2_Missense_Mutation_p.Q96K	p.Q96K	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	4	412	-			96					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.286C>A	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.090034	0.76756	.	.	ENSG00000170522	ENST00000394607;ENST00000302274;ENST00000506625;ENST00000503885	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.51	5.51	0.81932	.	0.221814	0.47852	D	0.000205	T	0.18676	0.0448	N	0.25380	0.74	0.80722	D	1	B	0.11235	0.004	B	0.19666	0.026	T	0.06162	-1.0842	10	0.21540	T	0.41	1.0909	19.8016	0.96509	0.0:0.0:1.0:0.0	.	96	Q9H5J4	ELOV6_HUMAN	K	96	ENSP00000378105:Q96K;ENSP00000304736:Q96K;ENSP00000425488:Q96K;ENSP00000426086:Q96K	ENSP00000304736:Q96K	Q	-	1	0	ELOVL6	111200295	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.870000	0.87175	2.770000	0.95276	0.655000	0.94253	CAG		PASS	0.413	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		31	45	31	45	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111427862	111427862	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:111427862T>A	ENST00000265162.5	+	4	1330	c.988T>A	c.(988-990)Ttt>Att	p.F330I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	330					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F330I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TAAAAGTGTGTTTGATTATTT	0.284																																						uc003iab.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(988-990)TTT>ATT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						63.0	61.0	62.0					4																	111427862		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111427862T>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.988T>A	4.37:g.111427862T>A	ENSP00000265162:p.Phe330Ile						p.F330I	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	4	1330	+		Hepatocellular(203;0.217)	330			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.988T>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153357	0.38021	.	.	ENSG00000138792	ENST00000265162	T	0.02280	4.36	5.81	5.81	0.92471	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.088495	0.85682	D	0.000000	T	0.03827	0.0108	N	0.02830	-0.485	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.72168	-0.4372	10	0.32370	T	0.25	.	16.1524	0.81632	0.0:0.0:0.0:1.0	.	330	Q07075	AMPE_HUMAN	I	330	ENSP00000265162:F330I	ENSP00000265162:F330I	F	+	1	0	ENPEP	111647311	1.000000	0.71417	0.914000	0.36105	0.992000	0.81027	5.062000	0.64326	2.223000	0.72356	0.533000	0.62120	TTT		PASS	0.284	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			9	34	9	34	---	---	---	---
TRAM1L1	133022	broad.mit.edu	37	4	118005974	118005974	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:118005974G>T	ENST00000310754.4	-	1	762	c.576C>A	c.(574-576)gaC>gaA	p.D192E		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	192	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D192E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GACGAGGGATGTCTTGTTTTT	0.393																																						uc003ibv.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(574-576)GAC>GAA		translocation associated membrane protein 1-like							171.0	162.0	165.0					4																	118005974		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005974G>T	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.576C>A	4.37:g.118005974G>T	ENSP00000309402:p.Asp192Glu						p.D192E	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			1	763	-			192			Cytoplasmic (Potential).|TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.576C>A	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.772606	0.00640	.	.	ENSG00000174599	ENST00000310754	D	0.87412	-2.25	4.54	-8.24	0.01029	TRAM/LAG1/CLN8 homology domain (3);	0.188932	0.53938	N	0.000041	T	0.66954	0.2842	N	0.20610	0.595	0.29078	N	0.882895	B	0.20550	0.046	B	0.33339	0.162	T	0.66520	-0.5903	10	0.02654	T	1	-0.0509	4.1119	0.10063	0.4947:0.097:0.31:0.0982	.	192	Q8N609	TR1L1_HUMAN	E	192	ENSP00000309402:D192E	ENSP00000309402:D192E	D	-	3	2	TRAM1L1	118225422	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.912000	0.01582	-2.212000	0.00736	-0.768000	0.03414	GAC		PASS	0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		43	120	43	120	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126238488	126238488	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:126238488C>T	ENST00000394329.3	+	1	935	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R308W(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCACGGTGCGGGAGCCCCT	0.667											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(922-924)CGG>TGG		FAT tumor suppressor homolog 4 precursor							25.0	31.0	29.0					4																	126238488		2009	4154	6163	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238488C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.922C>T	4.37:g.126238488C>T	ENSP00000377862:p.Arg308Trp		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.R308W	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	922	+			308			Cadherin 3.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.922C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342548	0.24339	.	.	ENSG00000196159	ENST00000394329	T	0.53857	0.6	5.2	-0.612	0.11597	Cadherin (4);Cadherin-like (1);	0.000000	0.31936	U	0.006835	T	0.62684	0.2448	M	0.64997	1.995	0.40046	D	0.975714	D	0.76494	0.999	D	0.70935	0.971	T	0.62714	-0.6796	10	0.52906	T	0.07	.	9.8101	0.40817	0.3712:0.4001:0.2287:0.0	.	308	Q6V0I7	FAT4_HUMAN	W	308	ENSP00000377862:R308W	ENSP00000377862:R308W	R	+	1	2	FAT4	126457938	0.998000	0.40836	0.957000	0.39632	0.041000	0.13682	1.130000	0.31393	0.135000	0.18707	-0.175000	0.13238	CGG		PASS	0.667	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		13	29	13	29	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153897162	153897162	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:153897162C>T	ENST00000511601.1	+	12	2907	c.2719C>T	c.(2719-2721)Ccc>Tcc	p.P907S	FHDC1_ENST00000260008.3_Missense_Mutation_p.P907S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	907								p.P907S(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CAAGGTCATGCCCATCACCAA	0.682																																						uc003inf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2719-2721)CCC>TCC		FH2 domain containing 1							28.0	31.0	30.0					4																	153897162		2203	4299	6502	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897162C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2719C>T	4.37:g.153897162C>T	ENSP00000427567:p.Pro907Ser						p.P907S	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	2794	+	all_hematologic(180;0.093)		907						Missense_Mutation	SNP	ENST00000511601.1	37	c.2719C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777753	0.70107	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.53857	0.6;0.6	4.98	4.98	0.66077	.	0.391386	0.26590	N	0.023539	T	0.62490	0.2432	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.64183	-0.6467	10	0.49607	T	0.09	.	18.2485	0.89995	0.0:1.0:0.0:0.0	.	907	Q9C0D6	FHDC1_HUMAN	S	907	ENSP00000427567:P907S;ENSP00000260008:P907S	ENSP00000260008:P907S	P	+	1	0	FHDC1	154116612	1.000000	0.71417	0.990000	0.47175	0.267000	0.26476	5.529000	0.67135	2.311000	0.77944	0.462000	0.41574	CCC		PASS	0.682	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		3	44	3	44	---	---	---	---
NPY5R	4889	broad.mit.edu	37	4	164271888	164271888	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:164271888C>G	ENST00000515560.1	+	4	1985	c.463C>G	c.(463-465)Cat>Gat	p.H155D	NPY5R_ENST00000338566.3_Missense_Mutation_p.H155D|NPY5R_ENST00000506953.1_Missense_Mutation_p.H155D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	155					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.H155D(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AACAGCAAACCATGGCTACTT	0.363																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(463-465)CAT>GAT		neuropeptide Y receptor Y5							196.0	199.0	198.0					4																	164271888		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271888C>G	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.463C>G	4.37:g.164271888C>G	ENSP00000423917:p.His155Asp						p.H155D	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	645	+	all_hematologic(180;0.166)	Prostate(90;0.109)	155			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.463C>G	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115425	0.56505	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.38240	1.15;1.15;1.15	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.095757	0.43919	D	0.000518	T	0.47210	0.1433	M	0.85197	2.74	0.58432	D	0.999994	P	0.43909	0.821	B	0.38755	0.281	T	0.61451	-0.7060	10	0.72032	D	0.01	.	18.9152	0.92503	0.0:1.0:0.0:0.0	.	155	Q15761	NPY5R_HUMAN	D	155	ENSP00000339377:H155D;ENSP00000423917:H155D;ENSP00000423474:H155D	ENSP00000339377:H155D	H	+	1	0	NPY5R	164491338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.227000	0.58612	2.533000	0.85409	0.591000	0.81541	CAT		PASS	0.363	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		107	219	107	219	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177032832	177032833	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:177032832_177032833CC>AA	ENST00000280190.4	+	3	329_330	c.173_174CC>AA	c.(172-174)aCC>aAA	p.T58K	WDR17_ENST00000508596.1_Missense_Mutation_p.T34K|WDR17_ENST00000393643.2_Missense_Mutation_p.T34K|WDR17_ENST00000507824.2_Missense_Mutation_p.T58K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	58								p.T58K(1)|p.T58T(1)|p.T58N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATTGTGCGACCCTGGCTATCT	0.366																																						uc003iuj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(172-174)ACC>AAC|c.(172-174)ACC>ACA		WD repeat domain 17 isoform 1																																				SO:0001583	missense	116966							g.chr4:177032832C>A|g.chr4:177032833C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	Exception_encountered	4.37:g.177032832_177032833delinsAA	ENSP00000280190:p.Thr58Lys					WDR17_uc003iuk.2_Missense_Mutation_p.T34N|WDR17_uc003ium.3_Missense_Mutation_p.T34N|WDR17_uc003iul.1_Missense_Mutation_p.T34N|WDR17_uc003iuk.2_Silent_p.T34T|WDR17_uc003ium.3_Silent_p.T34T|WDR17_uc003iul.1_Silent_p.T34T	p.T58N|p.T58T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	3	329|330	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	58					E7EQX0|Q0QD35	Missense_Mutation|Silent	SNP	ENST00000280190.4	37	c.173C>A|c.174C>A	CCDS3825.1																																																																																				PASS	0.366	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			22|21	60|62	21	60	---	---	---	---
SPATA4	132851	broad.mit.edu	37	4	177116559	177116559	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:177116559G>C	ENST00000280191.2	-	1	263	c.155C>G	c.(154-156)tCt>tGt	p.S52C	SPATA4_ENST00000515234.1_5'Flank	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	52						cytoplasm (GO:0005737)		p.S52C(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		AACGGAACGAGACAAGCGGGA	0.592																																						uc003iuo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)TCT>TGT		spermatogenesis associated 4							120.0	116.0	117.0					4																	177116559		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177116559G>C	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.155C>G	4.37:g.177116559G>C	ENSP00000280191:p.Ser52Cys						p.S52C	NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	1	264	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	52					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.155C>G	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022850	0.35701	.	.	ENSG00000150628	ENST00000280191	T	0.47177	0.85	4.42	3.55	0.40652	.	0.234345	0.34652	N	0.003787	T	0.32346	0.0826	N	0.20986	0.625	0.42086	D	0.99127	B	0.15473	0.013	B	0.14023	0.01	T	0.12656	-1.0539	10	0.46703	T	0.11	-23.0494	10.1317	0.42682	0.0:0.2144:0.7856:0.0	.	52	Q8NEY3	SPAT4_HUMAN	C	52	ENSP00000280191:S52C	ENSP00000280191:S52C	S	-	2	0	SPATA4	177353553	0.998000	0.40836	0.422000	0.26621	0.121000	0.20230	3.390000	0.52523	1.161000	0.42604	0.585000	0.79938	TCT		PASS	0.592	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		26	81	26	81	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183245314	183245314	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:183245314G>T	ENST00000511685.1	+	2	264	c.141G>T	c.(139-141)ttG>ttT	p.L47F	TENM3_ENST00000406950.2_Missense_Mutation_p.L47F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	47	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L47F(1)									GCGAGACATTGAAAGCTTTTG	0.507																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)TTG>TTT		odz, odd Oz/ten-m homolog 3							139.0	140.0	140.0					4																	183245314		1966	4156	6122	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183245314G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.141G>T	4.37:g.183245314G>T	ENSP00000424226:p.Leu47Phe					ODZ3_uc010irv.1_Missense_Mutation_p.L47F	p.L47F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	1	178	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	47			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.141G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587653	0.46110	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.48201	0.82;0.82;0.82	5.65	4.8	0.61643	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.69387	0.3105	M	0.76002	2.32	0.34698	D	0.726442	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.992	T	0.81127	-0.1074	9	0.87932	D	0	.	16.7577	0.85504	0.0:0.129:0.871:0.0	.	47;47	D6RGC5;Q9P273	.;TEN3_HUMAN	F	47	ENSP00000421320:L47F;ENSP00000424226:L47F;ENSP00000385276:L47F	ENSP00000385276:L47F	L	+	3	2	ODZ3	183482308	1.000000	0.71417	0.994000	0.49952	0.631000	0.37964	2.365000	0.44196	1.597000	0.50072	0.655000	0.94253	TTG		PASS	0.507	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			28	71	28	71	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187628794	187628794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr4:187628794G>A	ENST00000441802.2	-	2	2397	c.2188C>T	c.(2188-2190)Cag>Tag	p.Q730*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	730	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q730*(2)		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						CCCACAGGCTGGTTTTCCTTT	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(2188-2190)CAG>TAG		FAT tumor suppressor 1 precursor							62.0	60.0	61.0					4																	187628794		1889	4118	6007	SO:0001587	stop_gained	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.chr4:187628794G>A	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.2188C>T	4.37:g.187628794G>A	ENSP00000406229:p.Gln730*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.Q730*	p.Q730*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2376	-			730			Extracellular (Potential).|Cadherin 6.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.2188C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	35	5.542462	0.96474	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.39	3.51	0.40186	.	1.132200	0.06289	N	0.698858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.0202	0.30404	0.159:0.1365:0.7045:0.0	.	.	.	.	X	730	.	ENSP00000260147:Q730X	Q	-	1	0	FAT1	187865788	0.996000	0.38824	0.612000	0.29024	0.072000	0.16883	2.680000	0.46918	1.505000	0.48720	0.591000	0.81541	CAG		PASS	0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		26	62	26	62	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	822005	822005	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:822005C>A	ENST00000283441.8	-	9	1412	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.G343G	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	343						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.G343G(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTCTTCATCCCCTTCCTGTG	0.358																																						uc011cma.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)|pancreas(1)	2						c.(1027-1029)GGG>GGT		zinc finger, DHHC-type containing 11							78.0	60.0	66.0					5																	822005		2203	4291	6494	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:822005C>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1029G>T	5.37:g.822005C>A						ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA	p.G343G	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		9	1413	-			343					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.1029G>T	CCDS3857.1																																																																																				PASS	0.358	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		6	65	6	65	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6620367	6620367	+	Silent	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:6620367G>A	ENST00000264670.6	-	7	978	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	NSUN2_ENST00000506139.1_Silent_p.L188L|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	223					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.L223L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TGGACGAGCAGGTAGCAGCGC	0.527																																						uc003jdu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(667-669)CTG>TTG		NOL1/NOP2/Sun domain family, member 2							98.0	97.0	98.0					5																	6620367		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6620367G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.667C>T	5.37:g.6620367G>A						NSUN2_uc003jdt.2_5'UTR|NSUN2_uc011cmk.1_Silent_p.L188L|NSUN2_uc003jdv.2_5'UTR	p.L223L	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			7	732	-			223					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.667C>T	CCDS3869.1																																																																																				PASS	0.527	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		156	110	156	110	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23527441	23527441	+	Silent	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:23527441T>C	ENST00000296682.3	+	11	2426	c.2244T>C	c.(2242-2244)taT>taC	p.Y748Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	748					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)	p.Y748Y(1)		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						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2242-2244)TAT>TAC		PR domain containing 9							42.0	57.0	52.0					5																	23527441		2111	4287	6398	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527441T>C	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.2244T>C	5.37:g.23527441T>C		HNSCC(3;0.000094)					p.Y748Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2426	+			748			C2H2-type 10.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2244T>C	CCDS43307.1																																																																																				PASS	0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		43	245	43	245	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38425120	38425120	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:38425120C>T	ENST00000354891.3	+	13	2082	c.1736C>T	c.(1735-1737)aCc>aTc	p.T579I	EGFLAM_ENST00000322350.5_Missense_Mutation_p.T579I|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Missense_Mutation_p.T345I	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	579	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.T579I(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATGGTGGCACCTGCACAGCA	0.502																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(1735-1737)ACC>ATC		EGF-like, fibronectin type III and laminin G							175.0	163.0	167.0					5																	38425120		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38425120C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1736C>T	5.37:g.38425120C>T	ENSP00000346964:p.Thr579Ile					EGFLAM_uc003jlb.1_Missense_Mutation_p.T579I|EGFLAM_uc003jle.1_Missense_Mutation_p.T345I|EGFLAM_uc003jlf.1_5'UTR	p.T579I	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			13	2060	+	all_lung(31;0.000385)		579			EGF-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1736C>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298338	0.40694	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	D;D;D	0.92911	-3.13;-3.13;-3.13	5.91	4.1	0.47936	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.162937	0.56097	N	0.000039	D	0.85592	0.5732	L	0.28192	0.835	0.80722	D	1	B;B;B	0.33448	0.162;0.412;0.097	B;B;B	0.34242	0.039;0.178;0.061	T	0.80379	-0.1407	10	0.27082	T	0.32	-8.8798	11.3325	0.49484	0.0:0.8045:0.1277:0.0677	.	345;579;579	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	I	579;579;345;345	ENSP00000346964:T579I;ENSP00000313084:T579I;ENSP00000337607:T345I	ENSP00000313084:T579I	T	+	2	0	EGFLAM	38460877	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.095000	0.41729	0.807000	0.34208	0.655000	0.94253	ACC		PASS	0.502	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		75	477	75	477	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101735267	101735267	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:101735267G>T	ENST00000506729.1	-	10	1977	c.1806C>A	c.(1804-1806)gcC>gcA	p.A602A	SLCO6A1_ENST00000389019.3_Silent_p.A540A|SLCO6A1_ENST00000379807.3_Silent_p.A602A|SLCO6A1_ENST00000379810.1_Silent_p.A349A|SLCO6A1_ENST00000513675.1_Silent_p.A349A			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	602						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A602A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCGCGTCATGGCCAAGACGA	0.279																																						uc003knn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1804-1806)GCC>GCA		solute carrier organic anion transporter family,							66.0	63.0	64.0					5																	101735267		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101735267G>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1806C>A	5.37:g.101735267G>T						SLCO6A1_uc003kno.2_Silent_p.A349A|SLCO6A1_uc003knp.2_Silent_p.A602A|SLCO6A1_uc003knq.2_Silent_p.A540A	p.A602A	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	1978	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	602			Helical; Name=10; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.1806C>A	CCDS34206.1																																																																																				PASS	0.279	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		18	30	18	30	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140168155	140168155	+	Silent	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:140168155T>C	ENST00000504120.2	+	1	2280	c.2280T>C	c.(2278-2280)tcT>tcC	p.S760S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.S760S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	760	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S760S(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGTGCTCTAGCGAGGGCC	0.587																																						uc003lhb.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2278-2280)TCT>TCC		protocadherin alpha 1 isoform 1 precursor							44.0	41.0	42.0					5																	140168155		2203	4300	6503	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140168155T>C	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2280T>C	5.37:g.140168155T>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.S760S	p.S760S	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2280	+			760			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.2280T>C	CCDS54913.1																																																																																				PASS	0.587	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		6	25	6	25	---	---	---	---
TSPAN17	26262	broad.mit.edu	37	5	176084550	176084550	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:176084550T>C	ENST00000503045.1	+	9	836	c.781T>C	c.(781-783)Tgg>Cgg	p.W261R	TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000310032.8_Missense_Mutation_p.W284R|TSPAN17_ENST00000508164.1_Missense_Mutation_p.W281R			Q96FV3	TSN17_HUMAN	tetraspanin 17	0					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)	p.W281R(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			tgaaaacCACTGGCTTACGCC	0.562																																						uc003met.2																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)TGG>CGG		transmembrane 4 superfamily member 17 isoform a							32.0	32.0	32.0					5																	176084550		2199	4277	6476	SO:0001583	missense	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176084550T>C	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.781T>C	5.37:g.176084550T>C	ENSP00000425212:p.Trp261Arg					TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.2_Missense_Mutation_p.W281R|TSPAN17_uc003mev.2_3'UTR|TSPAN17_uc003mew.2_3'UTR	p.W284R	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1079	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6NXF7|Q96S98|Q9UKB9	Missense_Mutation	SNP	ENST00000503045.1	37	c.850T>C		.	.	.	.	.	.	.	.	.	.	T	11.33	1.606173	0.28623	.	.	ENSG00000048140	ENST00000310032;ENST00000508164;ENST00000503045	T;T;T	0.16897	3.16;3.16;2.31	3.83	-1.34	0.09143	.	1.544850	0.04513	N	0.383213	T	0.08133	0.0203	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31475	-0.9942	10	0.37606	T	0.19	.	3.1656	0.06534	0.202:0.382:0.0:0.416	.	281	Q96FV3-4	.	R	284;281;261	ENSP00000309036:W284R;ENSP00000422053:W281R;ENSP00000425212:W261R	ENSP00000309036:W284R	W	+	1	0	TSPAN17	176017156	0.909000	0.30893	0.012000	0.15200	0.185000	0.23345	1.145000	0.31577	-0.231000	0.09825	0.482000	0.46254	TGG		PASS	0.562	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			8	13	8	13	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176678730	176678730	+	Splice_Site	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:176678730G>C	ENST00000439151.2	+	12	4686		c.e12-1		NSD1_ENST00000354179.4_Splice_Site|NSD1_ENST00000347982.4_Splice_Site|NSD1_ENST00000361032.4_Splice_Site	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTCTTAACAGAATTGTGAAA	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Unknown(2)		lung(2)	ovary(2)|kidney(1)	3						c.e12-1		nuclear receptor binding SET domain protein 1							107.0	103.0	104.0					5																	176678730		2203	4300	6503	SO:0001630	splice_region_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176678730G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4642-1G>C	5.37:g.176678730G>C		HNSCC(47;0.14)				NSD1_uc003mft.3_Splice_Site_p.N1279_splice|NSD1_uc003mfs.1_Splice_Site_p.N1445_splice|NSD1_uc011dfx.1_Splice_Site_p.N1196_splice	p.N1548_splice	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	12	4780	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						Q96PD8|Q96RN7	Splice_Site	SNP	ENST00000439151.2	37	c.4642_splice	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720220	0.68844	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7172	0.91679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NSD1	176611336	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	9.309000	0.96252	2.509000	0.84616	0.655000	0.94253	.		PASS	0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	Intron	31	77	31	77	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180049733	180049733	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr5:180049733G>T	ENST00000261937.6	-	12	1733	c.1655C>A	c.(1654-1656)aCc>aAc	p.T552N	FLT4_ENST00000502649.1_Missense_Mutation_p.T552N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.T552N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	552	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.T552N(2)|p.T362N(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCACTCACTGGTCACATAGAA	0.577																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3																			3	Substitution - Missense(3)		lung(3)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1654-1656)ACC>AAC		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						108.0	89.0	95.0					5																	180049733		2203	4298	6501	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180049733G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1655C>A	5.37:g.180049733G>T	ENSP00000261937:p.Thr552Asn					FLT4_uc003mlz.3_Missense_Mutation_p.T552N|FLT4_uc003mmb.1_Missense_Mutation_p.T85N|FLT4_uc011dgy.1_Missense_Mutation_p.T552N	p.T552N	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	12	1734	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	552			Ig-like C2-type 5.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1655C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815870	0.90790	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.94497	-3.44;-3.44;-3.44	4.33	4.33	0.51752	Immunoglobulin subtype (1);Immunoglobulin-like (1);	.	.	.	.	D	0.97523	0.9189	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.76494	0.999;0.988;0.986;0.978	D;D;D;D	0.74674	0.984;0.962;0.968;0.949	D	0.98559	1.0640	9	0.72032	D	0.01	.	17.2335	0.86991	0.0:0.0:1.0:0.0	.	552;362;552;552	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	N	552;552;552;362	ENSP00000261937:T552N;ENSP00000377016:T552N;ENSP00000426057:T552N	ENSP00000261937:T552N	T	-	2	0	FLT4	179982339	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.144000	0.66660	0.462000	0.41574	ACC		PASS	0.577	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			14	23	14	23	---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25830752	25830752	+	Splice_Site	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:25830752C>G	ENST00000244527.4	-	2	149	c.34G>C	c.(34-36)Gtt>Ctt	p.V12L	SLC17A1_ENST00000476801.1_Splice_Site_p.V12L|SLC17A1_ENST00000427328.1_Splice_Site_p.V12L|SLC17A1_ENST00000468082.1_Splice_Site_p.V12L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	12					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.V12L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGTGCTACCTTTTTTGGGA	0.398																																						uc003nfh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(34-36)GTT>CTT		solute carrier family 17 (sodium phosphate),							186.0	175.0	179.0					6																	25830752		2203	4300	6503	SO:0001630	splice_region_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25830752C>G		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.34+1G>C	6.37:g.25830752C>G						SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.V10L|SLC17A1_uc010jqc.1_Missense_Mutation_p.V10L	p.V12L	NM_005074	NP_005065	Q14916	NPT1_HUMAN			2	150	-			12					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	c.34G>C	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445193	0.43429	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	3.06	3.06	0.35304	Major facilitator superfamily domain, general substrate transporter (1);	1.227220	0.06490	N	0.734350	T	0.33206	0.0855	M	0.64170	1.965	0.33637	D	0.606728	B;B	0.20550	0.046;0.027	B;B	0.18263	0.021;0.009	T	0.23476	-1.0187	9	.	.	.	.	9.8591	0.41103	0.0:1.0:0.0:0.0	.	12;12	Q14916-2;Q14916	.;NPT1_HUMAN	L	12	ENSP00000244527:V12L;ENSP00000410549:V12L;ENSP00000420614:V12L;ENSP00000420546:V12L	.	V	-	1	0	SLC17A1	25938731	1.000000	0.71417	0.993000	0.49108	0.427000	0.31564	2.477000	0.45180	2.015000	0.59207	0.563000	0.77884	GTT		PASS	0.398	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		Missense_Mutation	41	201	41	201	---	---	---	---
HIST1H2AD	3013	broad.mit.edu	37	6	26199405	26199405	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:26199405C>A	ENST00000341023.1	-	1	66	c.67G>T	c.(67-69)Gga>Tga	p.G23*	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR|HIST1H2BF_ENST00000359985.1_5'Flank	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	23						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G23*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				AACTGGAGTCCGGCCCGCGAA	0.607																																						uc003ngw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(67-69)GGA>TGA		histone cluster 1, H2ad							21.0	25.0	23.0					6																	26199405		2203	4300	6503	SO:0001587	stop_gained	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199405C>A	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.67G>T	6.37:g.26199405C>A	ENSP00000341094:p.Gly23*					HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	p.G23*	NM_021065	NP_066409	P20671	H2A1D_HUMAN			1	67	-		all_hematologic(11;0.196)	23					A0PK91|P57754|Q6FGY6	Nonsense_Mutation	SNP	ENST00000341023.1	37	c.67G>T	CCDS4591.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.024443	0.54683	.	.	ENSG00000196866	ENST00000341023	.	.	.	4.82	3.95	0.45737	.	0.336680	0.21144	U	0.079423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.3936	0.55373	0.0:0.9173:0.0:0.0827	.	.	.	.	X	23	.	ENSP00000341094:G23X	G	-	1	0	HIST1H2AD	26307384	1.000000	0.71417	0.023000	0.16930	0.003000	0.03518	7.550000	0.82173	1.150000	0.42419	0.655000	0.94253	GGA		PASS	0.607	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		17	37	17	37	---	---	---	---
HLA-DMA	3108	broad.mit.edu	37	6	32917165	32917166	+	Missense_Mutation	DNP	CG	CG	AA	rs199940435|rs371040586		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:32917165_32917166CG>AA	ENST00000374843.4	-	4	748_749	c.663_664CG>TT	c.(661-666)aaCGca>aaTTca	p.A222S	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.A188S|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.A127S|HLA-DMA_ENST00000464392.1_5'UTR	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	222	Connecting peptide. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)	p.A222S(2)|p.N221N(1)		kidney(1)|large_intestine(2)|lung(8)	11						GAGGGCAGTGCGTTCCGGGGTA	0.584																																						uc003ocm.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(664-666)GCA>TCA|c.(661-663)AAC>AAT		major histocompatibility complex, class II, DM																																				SO:0001583	missense	3108					integral to membrane|MHC class II protein complex		g.chr6:32917165C>A|g.chr6:32917166G>A		CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.663_664delinsAA	6.37:g.32917165_32917166delinsAA	ENSP00000363976:p.Ala222Ser						p.A222S|p.N221N	NM_006120	NP_006111	Q31604	Q31604_HUMAN			4	750|749	-			222|221					Q29639|Q29640	Missense_Mutation|Silent	SNP	ENST00000374843.4	37	c.664G>T|c.663C>T	CCDS4761.1																																																																																				PASS	0.584	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120		7	33	7	33	---	---	---	---
TJAP1	93643	broad.mit.edu	37	6	43466779	43466779	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:43466779G>T	ENST00000372445.5	+	4	416	c.40G>T	c.(40-42)Gca>Tca	p.A14S	TJAP1_ENST00000436109.2_Missense_Mutation_p.A14S|TJAP1_ENST00000259751.1_Missense_Mutation_p.A14S|TJAP1_ENST00000438588.2_Missense_Mutation_p.A14S|TJAP1_ENST00000372444.2_Missense_Mutation_p.A14S|TJAP1_ENST00000372452.1_Missense_Mutation_p.A14S|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.A14S	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	14					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.A14S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTACCGTAAGGCACCACCAGA	0.587																																						uc003ovd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GCA>TCA		tight junction associated protein 1 isoform a							92.0	77.0	82.0					6																	43466779		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43466779G>T	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.40G>T	6.37:g.43466779G>T	ENSP00000361522:p.Ala14Ser					TJAP1_uc003ovf.2_Missense_Mutation_p.A14S|TJAP1_uc003ove.2_Missense_Mutation_p.A14S|TJAP1_uc003ovc.2_Missense_Mutation_p.A14S|TJAP1_uc010jyp.2_5'UTR|TJAP1_uc011dvh.1_Missense_Mutation_p.A14S|TJAP1_uc003ovg.2_5'UTR|TJAP1_uc010jyq.2_Missense_Mutation_p.A14S|TJAP1_uc011dvi.1_Missense_Mutation_p.A14S|TJAP1_uc011dvj.1_5'Flank	p.A14S	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	416	+	all_lung(25;0.00536)		14					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.40G>T	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369786	0.95900	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	M	0.62723	1.935	0.58432	D	0.999996	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.57900	-0.7731	10	0.59425	D	0.04	-0.0171	17.1606	0.86802	0.0:0.0:1.0:0.0	.	14;14;14	E2QRK7;Q5JTD0;Q5JTD0-2	.;TJAP1_HUMAN;.	S	14	ENSP00000361521:A14S;ENSP00000361522:A14S;ENSP00000407080:A14S;ENSP00000390981:A14S;ENSP00000259751:A14S;ENSP00000361530:A14S;ENSP00000361527:A14S;ENSP00000408769:A14S	ENSP00000259751:A14S	A	+	1	0	TJAP1	43574757	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.903000	0.87398	2.495000	0.84180	0.655000	0.94253	GCA		PASS	0.587	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		7	64	7	64	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52874359	52874359	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:52874359C>T	ENST00000350082.5	-	12	1845	c.1499G>A	c.(1498-1500)aGt>aAt	p.S500N	ICK_ENST00000356971.3_Missense_Mutation_p.S500N	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	500					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S500N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					atttcttatactgatccctga	0.348																																						uc003pbh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(1498-1500)AGT>AAT		intestinal cell kinase							130.0	116.0	121.0					6																	52874359		2203	4300	6503	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52874359C>T	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1499G>A	6.37:g.52874359C>T	ENSP00000263043:p.Ser500Asn					ICK_uc003pbi.2_Missense_Mutation_p.S500N	p.S500N	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN			13	1989	-	Lung NSC(77;0.103)		500					A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.1499G>A	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.685486	0.00745	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.71222	-0.55;-0.55	5.57	-0.159	0.13379	.	0.280566	0.38492	N	0.001662	T	0.06962	0.0177	N	0.00152	-1.975	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.49062	-0.8978	10	0.02654	T	1	-0.001	6.6533	0.22975	0.0:0.1409:0.3624:0.4967	.	500	Q9UPZ9	ICK_HUMAN	N	500	ENSP00000263043:S500N;ENSP00000349458:S500N	ENSP00000263043:S500N	S	-	2	0	ICK	52982318	1.000000	0.71417	0.997000	0.53966	0.103000	0.19146	0.623000	0.24447	0.106000	0.17784	-0.383000	0.06682	AGT		PASS	0.348	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		37	130	37	130	---	---	---	---
LCA5	167691	broad.mit.edu	37	6	80196890	80196890	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:80196890C>A	ENST00000392959.1	-	9	2536	c.1925G>T	c.(1924-1926)gGg>gTg	p.G642V	LCA5_ENST00000369846.4_Missense_Mutation_p.G642V	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	642					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.G642V(1)|p.G642L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCCTTTATTCCCAGGGAGAAA	0.428																																						uc003pix.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1924-1926)GGG>GTG		Leber congenital amaurosis 5							132.0	138.0	136.0					6																	80196890		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80196890C>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1925G>T	6.37:g.80196890C>A	ENSP00000376686:p.Gly642Val					LCA5_uc003piy.2_Missense_Mutation_p.G642V	p.G642V	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	8	2360	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	642					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1925G>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325380	0.10900	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.30981	1.51;1.51	5.38	3.56	0.40772	.	0.377308	0.26414	N	0.024507	T	0.09992	0.0245	L	0.56769	1.78	0.23724	N	0.997019	B	0.24920	0.114	B	0.18561	0.022	T	0.22312	-1.0220	10	0.15066	T	0.55	-3.4149	7.5513	0.27798	0.3964:0.5244:0.0:0.0793	.	642	Q86VQ0	LCA5_HUMAN	V	642	ENSP00000358861:G642V;ENSP00000376686:G642V	ENSP00000358861:G642V	G	-	2	0	LCA5	80253609	0.001000	0.12720	0.521000	0.27850	0.238000	0.25445	0.653000	0.24902	1.231000	0.43661	0.573000	0.79308	GGG		PASS	0.428	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		48	249	48	249	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85472389	85472389	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:85472389G>T	ENST00000369663.5	-	2	707	c.370C>A	c.(370-372)Cgc>Agc	p.R124S	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	124					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R124S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCCAGGGAGCGCGCCGGAGAC	0.697																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(370-372)CGC>AGC		T-box 18							19.0	24.0	23.0					6																	85472389		2183	4282	6465	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85472389G>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.370C>A	6.37:g.85472389G>T	ENSP00000358677:p.Arg124Ser					TBX18_uc010kbq.1_5'UTR	p.R124S	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	2	370	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	124					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.370C>A	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	2.563	-0.301327	0.05495	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.86497	-2.13	5.52	4.64	0.57946	.	0.381182	0.29830	N	0.011087	T	0.52645	0.1747	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.37103	-0.9720	10	0.09590	T	0.72	.	11.2157	0.48825	0.0:0.1385:0.7176:0.1439	.	124	O95935	TBX18_HUMAN	S	39;124	ENSP00000358677:R124S	ENSP00000358677:R124S	R	-	1	0	TBX18	85529108	0.983000	0.35010	0.075000	0.20258	0.081000	0.17604	4.519000	0.60517	1.304000	0.44892	0.561000	0.74099	CGC		PASS	0.697	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		10	53	10	53	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87925771	87925771	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:87925771G>T	ENST00000369577.3	+	2	362	c.319G>T	c.(319-321)Gca>Tca	p.A107S	ZNF292_ENST00000339907.4_Missense_Mutation_p.A107S|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	107						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A107S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGAACGCTTGGCATTGTGAGT	0.393																																						uc003plm.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(319-321)GCA>TCA		zinc finger protein 292							136.0	123.0	127.0					6																	87925771		1899	4121	6020	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87925771G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.319G>T	6.37:g.87925771G>T	ENSP00000358590:p.Ala107Ser					ZNF292_uc003pll.1_Missense_Mutation_p.A107S	p.A107S	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	2	360	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	107					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.319G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784569	0.49997	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.10860	2.84;2.83	5.36	5.36	0.76844	.	.	.	.	.	T	0.06826	0.0174	N	0.21142	0.635	0.40083	D	0.97615	P;P	0.46142	0.789;0.873	B;P	0.47206	0.212;0.541	T	0.42949	-0.9421	9	0.27082	T	0.32	.	19.0821	0.93186	0.0:0.0:1.0:0.0	.	107;107	O60281;Q6ZW83	ZN292_HUMAN;.	S	107	ENSP00000358590:A107S;ENSP00000342847:A107S	ENSP00000342847:A107S	A	+	1	0	ZNF292	87982490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.175000	0.58263	2.508000	0.84585	0.563000	0.77884	GCA		PASS	0.393	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		9	79	9	79	---	---	---	---
BVES	11149	broad.mit.edu	37	6	105573354	105573354	+	Missense_Mutation	SNP	T	T	A	rs370640207		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:105573354T>A	ENST00000314641.5	-	4	667	c.451A>T	c.(451-453)Atg>Ttg	p.M151L	BVES_ENST00000336775.5_Missense_Mutation_p.M151L|BVES_ENST00000446408.2_Missense_Mutation_p.M151L	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	151					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.M151L(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GTTTGGATCATGCAAAACTGT	0.438																																						uc003pqw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)ATG>TTG		blood vessel epicardial substance isoform 5							160.0	158.0	159.0					6																	105573354		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573354T>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.451A>T	6.37:g.105573354T>A	ENSP00000313172:p.Met151Leu					BVES_uc003pqx.2_Missense_Mutation_p.M151L|BVES_uc003pqy.2_Missense_Mutation_p.M151L	p.M151L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			4	608	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	151			Cytoplasmic (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.451A>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453795	0.43531	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.28454	1.61;1.61;1.61	5.76	4.53	0.55603	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.352841	0.38837	N	0.001556	T	0.04318	0.0119	N	0.02539	-0.55	0.32311	N	0.563692	B	0.16166	0.016	B	0.17979	0.02	T	0.22208	-1.0223	10	0.33141	T	0.24	-30.3374	6.3762	0.21509	0.1406:0.0732:0.0:0.7861	.	151	Q8NE79	POPD1_HUMAN	L	151	ENSP00000313172:M151L;ENSP00000337259:M151L;ENSP00000397310:M151L	ENSP00000313172:M151L	M	-	1	0	BVES	105680047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.833000	0.55790	2.192000	0.70111	0.533000	0.62120	ATG		PASS	0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		71	296	71	296	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117706942	117706942	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:117706942G>T	ENST00000368508.3	-	15	2406	c.2208C>A	c.(2206-2208)atC>atA	p.I736I	ROS1_ENST00000368507.3_Silent_p.I731I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	736					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I736I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATTCTCTGAGATATCCGTCC	0.463			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2206-2208)ATC>ATA		proto-oncogene c-ros-1 protein precursor							141.0	123.0	129.0					6																	117706942		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117706942G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2208C>A	6.37:g.117706942G>T						ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.I736I	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	15	2407	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	736			Extracellular (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.2208C>A	CCDS5116.1																																																																																				PASS	0.463	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			43	120	43	120	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	131996260	131996260	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:131996260C>A	ENST00000414305.1	+	10	1131	c.803C>A	c.(802-804)aCc>aAc	p.T268N	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000543135.1_Missense_Mutation_p.T234N|ENPP3_ENST00000358229.5_Missense_Mutation_p.T268N|ENPP3_ENST00000357639.3_Missense_Mutation_p.T268N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	268	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T268N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAAGCCGCTACCTACTTTTGG	0.423																																						uc003qcu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(802-804)ACC>AAC		ectonucleotide pyrophosphatase/phosphodiesterase							105.0	100.0	102.0					6																	131996260		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131996260C>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.803C>A	6.37:g.131996260C>A	ENSP00000406261:p.Thr268Asn					ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.T234N|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.T268N	p.T268N	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	10	1150	+	Breast(56;0.0753)		268			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.803C>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868848	0.51588	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000358229	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.64	3.83	0.44106	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.446433	0.22232	N	0.062813	T	0.77239	0.4101	M	0.78049	2.395	0.29203	N	0.875107	D	0.55800	0.973	D	0.65874	0.939	T	0.75465	-0.3308	10	0.87932	D	0	-2.0901	15.4187	0.74995	0.0:0.7369:0.2631:0.0	.	268	O14638	ENPP3_HUMAN	N	268;268;234;268	ENSP00000406261:T268N;ENSP00000350265:T268N;ENSP00000440810:T234N;ENSP00000350964:T268N	ENSP00000350265:T268N	T	+	2	0	ENPP3	132037953	0.968000	0.33430	0.015000	0.15790	0.427000	0.31564	3.534000	0.53568	0.698000	0.31739	0.542000	0.68232	ACC		PASS	0.423	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			29	96	29	96	---	---	---	---
MAP3K5	4217	broad.mit.edu	37	6	136923061	136923061	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:136923061C>T	ENST00000359015.4	-	20	3096	c.2736G>A	c.(2734-2736)aaG>aaA	p.K912K	MAP3K5_ENST00000355845.4_Silent_p.K159K	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	912	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.K912K(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GTATGAATGCCTTGGCCTCTG	0.403																																						uc003qhc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(2734-2736)AAG>AAA		mitogen-activated protein kinase kinase kinase							114.0	101.0	106.0					6																	136923061		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136923061C>T	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2736G>A	6.37:g.136923061C>T						MAP3K5_uc011edj.1_Silent_p.K159K|MAP3K5_uc011edk.1_Silent_p.K757K	p.K912K	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	20	3097	-	Colorectal(23;0.24)		912			Protein kinase.		A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.2736G>A	CCDS5179.1																																																																																				PASS	0.403	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			17	119	17	119	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138200446	138200446	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:138200446G>T	ENST00000237289.4	+	7	1930	c.1864G>T	c.(1864-1866)Ggc>Tgc	p.G622C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	622	Interaction with TNIP1. {ECO:0000250}.|Required for proteosomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.G622C(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AGAAAACAAGGGCTTTTGCAC	0.527			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2				Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		26	Whole gene deletion(25)|Substitution - Missense(1)	p.0?(22)	haematopoietic_and_lymphoid_tissue(25)|lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(1864-1866)GGC>TGC		tumor necrosis factor, alpha-induced protein 3							72.0	79.0	76.0					6																	138200446		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138200446G>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1864G>T	6.37:g.138200446G>T	ENSP00000237289:p.Gly622Cys					TNFAIP3_uc003qhs.2_Missense_Mutation_p.G622C	p.G622C	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1930	+	Breast(32;0.135)|Colorectal(23;0.24)		622			Interaction with NAF1 (By similarity).|A20-type 4.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1864G>T	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317635	0.81469	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.64803	-0.12	5.82	5.82	0.92795	Zinc finger, A20-type (3);	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.77395	-0.2604	10	0.87932	D	0	-15.4424	18.2711	0.90069	0.0:0.0:1.0:0.0	.	622	P21580	TNAP3_HUMAN	C	622	ENSP00000237289:G622C	ENSP00000237289:G622C	G	+	1	0	TNFAIP3	138242139	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.060000	0.93907	2.757000	0.94681	0.655000	0.94253	GGC		PASS	0.527	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			15	125	15	125	---	---	---	---
IYD	389434	broad.mit.edu	37	6	150710499	150710499	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:150710499T>A	ENST00000344419.3	+	2	330	c.190T>A	c.(190-192)Tgg>Agg	p.W64R	IYD_ENST00000425615.3_Missense_Mutation_p.W9R|IYD_ENST00000500320.3_Missense_Mutation_p.W64R|IYD_ENST00000392255.3_Missense_Mutation_p.W64R|IYD_ENST00000392256.2_Missense_Mutation_p.W64R|IYD_ENST00000229447.5_Missense_Mutation_p.W64R	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	64					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.W64R(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGCTGATGAATGGCAAGAATC	0.383																																						uc003qnu.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(190-192)TGG>AGG		iodotyrosine dehalogenase 1 isoform 2							64.0	62.0	63.0					6																	150710499		2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150710499T>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.190T>A	6.37:g.150710499T>A	ENSP00000343763:p.Trp64Arg					IYD_uc003qnv.1_Missense_Mutation_p.W64R|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.W64R|IYD_uc010kik.1_Missense_Mutation_p.N4K	p.W64R	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	2	330	+		Ovarian(120;0.028)	64			Extracellular (Potential).		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.190T>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928450	0.92389	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	D;T;D;D;D;D	0.86865	-2.18;-0.51;-2.11;-2.14;-2.16;-2.12	5.4	4.22	0.49857	.	0.255328	0.42548	D	0.000694	D	0.82875	0.5132	M	0.72894	2.215	0.43222	D	0.995105	P;P;P	0.50443	0.788;0.935;0.716	B;P;B	0.48166	0.272;0.569;0.204	T	0.80743	-0.1246	10	0.23891	T	0.37	-24.2648	12.7564	0.57336	0.0:0.0:0.1368:0.8632	.	64;64;64	C9JFW2;Q6PHW0-3;Q6PHW0	.;.;IYD1_HUMAN	R	64;64;64;64;64;9	ENSP00000229447:W64R;ENSP00000343763:W64R;ENSP00000376085:W64R;ENSP00000376084:W64R;ENSP00000441276:W64R;ENSP00000390081:W9R	ENSP00000229447:W64R	W	+	1	0	IYD	150752192	1.000000	0.71417	0.106000	0.21319	0.807000	0.45602	2.684000	0.46951	1.031000	0.39867	0.454000	0.30748	TGG		PASS	0.383	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		22	64	22	64	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152605113	152605113	+	Splice_Site	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:152605113C>A	ENST00000367255.5	-	96	18808	c.18207G>T	c.(18205-18207)gaG>gaT	p.E6069D	SYNE1_ENST00000423061.1_Splice_Site_p.E5998D|SYNE1_ENST00000356820.4_Splice_Site_p.E593D|SYNE1_ENST00000448038.1_Splice_Site_p.E5998D|SYNE1_ENST00000341594.5_Splice_Site_p.E5681D|SYNE1_ENST00000265368.4_Splice_Site_p.E6069D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6069					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E6069D(2)|p.E5998D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATTGGTTACCTCCAAAAGCT	0.478										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(18205-18207)GAG>GAT		spectrin repeat containing, nuclear envelope 1							53.0	54.0	54.0					6																	152605113		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152605113C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18207+1G>T	6.37:g.152605113C>A		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.E593D|SYNE1_uc003qos.3_Missense_Mutation_p.E593D|SYNE1_uc003qot.3_Missense_Mutation_p.E5998D|SYNE1_uc003qou.3_Missense_Mutation_p.E6069D|SYNE1_uc010kiy.1_Missense_Mutation_p.E248D	p.E6069D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	96	18809	-		Ovarian(120;0.0955)	6069			Spectrin 20.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.18207G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.137731	0.94517	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.46	5.46	0.80206	.	0.208158	0.33075	N	0.005303	T	0.57917	0.2086	M	0.66939	2.045	0.80722	D	1	D;P;P;D	0.89917	1.0;0.784;0.784;1.0	D;P;P;D	0.83275	0.996;0.449;0.449;0.986	T	0.55134	-0.8188	9	.	.	.	.	19.3604	0.94434	0.0:1.0:0.0:0.0	.	484;6069;6069;5998	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	6069;5998;6069;5998;5681;593	ENSP00000356224:E6069D;ENSP00000396024:E5998D;ENSP00000265368:E6069D;ENSP00000390975:E5998D;ENSP00000341887:E5681D;ENSP00000349276:E593D	.	E	-	3	2	SYNE1	152646806	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.412000	0.80091	2.570000	0.86706	0.585000	0.79938	GAG		PASS	0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Missense_Mutation	7	74	7	74	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152655162	152655162	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:152655162C>T	ENST00000367255.5	-	77	13376	c.12775G>A	c.(12775-12777)Gaa>Aaa	p.E4259K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E4188K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4188K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4124K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4259K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4259					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E4259K(2)|p.E4188K(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTATCCCATTCTGTAGTAAAT	0.373										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12775-12777)GAA>AAA		spectrin repeat containing, nuclear envelope 1							128.0	132.0	131.0					6																	152655162		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152655162C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12775G>A	6.37:g.152655162C>T	ENSP00000356224:p.Glu4259Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E4188K|SYNE1_uc003qou.3_Missense_Mutation_p.E4259K|SYNE1_uc010kiz.2_Missense_Mutation_p.E14K	p.E4259K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	77	13377	-		Ovarian(120;0.0955)	4259			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12775G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401786	0.62288	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.71	5.71	0.89125	.	0.092173	0.47093	D	0.000260	T	0.21062	0.0507	L	0.55103	1.725	0.80722	D	1	B;B;B;B	0.31256	0.316;0.211;0.211;0.316	B;B;B;B	0.32864	0.154;0.073;0.073;0.154	T	0.11299	-1.0593	10	0.07175	T	0.84	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	4259;4259;4259;4188	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4259;4188;4259;4188;4124	ENSP00000356224:E4259K;ENSP00000396024:E4188K;ENSP00000265368:E4259K;ENSP00000390975:E4188K;ENSP00000341887:E4124K	ENSP00000265368:E4259K	E	-	1	0	SYNE1	152696855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	GAA		PASS	0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		42	279	42	279	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152784642	152784642	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:152784642C>A	ENST00000367255.5	-	19	2544	c.1943G>T	c.(1942-1944)cGa>cTa	p.R648L	SYNE1_ENST00000367248.3_Missense_Mutation_p.R638L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R655L|SYNE1_ENST00000466159.2_Missense_Mutation_p.R648L|SYNE1_ENST00000413186.2_Missense_Mutation_p.R648L|SYNE1_ENST00000367253.4_Missense_Mutation_p.R648L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R655L|SYNE1_ENST00000495090.2_Missense_Mutation_p.R215L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R655L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R648L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	648					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R648Q(4)|p.R648L(2)|p.R655L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGTAAATTTCGAAAAAAATC	0.343										HNSCC(10;0.0054)																												uc010kiw.2																			7	Substitution - Missense(7)		lung(3)|upper_aerodigestive_tract(2)|skin(2)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(1942-1944)CGA>CTA		spectrin repeat containing, nuclear envelope 1							39.0	38.0	38.0					6																	152784642		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152784642C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1943G>T	6.37:g.152784642C>A	ENSP00000356224:p.Arg648Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R655L|SYNE1_uc003qou.3_Missense_Mutation_p.R648L|SYNE1_uc010kjb.1_Missense_Mutation_p.R631L|SYNE1_uc003qpa.1_Missense_Mutation_p.R648L|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.R164L|SYNE1_uc003qoz.2_Missense_Mutation_p.R80L|SYNE1_uc003qoy.2_Missense_Mutation_p.R215L	p.R648L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	19	2545	-		Ovarian(120;0.0955)	648			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.1943G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	31	5.092326	0.94149	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159	T;T;T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.56	5.56	0.83823	.	0.000000	0.48767	D	0.000174	T	0.49457	0.1558	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.985;0.977;0.956;0.993;0.985;0.993	T	0.45673	-0.9245	10	0.62326	D	0.03	.	19.8892	0.96923	0.0:1.0:0.0:0.0	.	631;648;648;215;638;648;655	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	L	648;655;648;655;655;648;638;648;215;648	ENSP00000356224:R648L;ENSP00000396024:R655L;ENSP00000265368:R648L;ENSP00000390975:R655L;ENSP00000341887:R655L;ENSP00000356222:R648L;ENSP00000356217:R638L;ENSP00000414510:R648L;ENSP00000438508:R215L;ENSP00000446021:R648L	ENSP00000265368:R648L	R	-	2	0	SYNE1	152826335	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.701000	0.84566	2.777000	0.95525	0.591000	0.81541	CGA		PASS	0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	39	17	39	---	---	---	---
RNASET2	8635	broad.mit.edu	37	6	167347621	167347621	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:167347621C>T	ENST00000508775.1	-	7	969	c.450G>A	c.(448-450)gtG>gtA	p.V150V	RP11-514O12.4_ENST00000507747.1_Missense_Mutation_p.C131Y|RNASET2_ENST00000476238.2_Silent_p.V150V|RNASET2_ENST00000496851.2_5'UTR|RNASET2_ENST00000366855.6_Silent_p.V112V	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	150					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)	p.V150V(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ATTTTAGAAGCACACTAAAAT	0.358																																						uc003qve.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)GTG>GTA		ribonuclease T2 precursor							86.0	88.0	87.0					6																	167347621		2203	4300	6503	SO:0001819	synonymous_variant	8635				RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	g.chr6:167347621C>T	AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.450G>A	6.37:g.167347621C>T						RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Silent_p.V58V|RNASET2_uc003qvg.2_Silent_p.V87V|RNASET2_uc003qvi.1_3'UTR	p.V150V	NM_003730	NP_003721	O00584	RNT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)	7	857	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	150					B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Silent	SNP	ENST00000508775.1	37	c.450G>A	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	C	0.574	-0.839967	0.02692	.	.	ENSG00000249141	ENST00000507747	.	.	.	4.07	0.00899	0.14077	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.37088	D	0.89931	.	.	.	.	.	.	T	0.13124	-1.0521	4	.	.	.	-9.0062	3.7392	0.08523	0.1664:0.4528:0.0:0.3808	.	.	.	.	Y	131	.	.	C	-	2	0	RP11-514O12.4	167267611	0.001000	0.12720	0.000000	0.03702	0.383000	0.30230	-0.777000	0.04669	0.032000	0.15435	-0.169000	0.13324	TGC		PASS	0.358	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730		13	79	13	79	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168351866	168351866	+	Splice_Site	SNP	C	C	T	rs144621028		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr6:168351866C>T	ENST00000447894.2	+	29	3811	c.3811C>T	c.(3811-3813)Cgt>Tgt	p.R1271C	MLLT4_ENST00000351017.4_Splice_Site_p.R1278C|MLLT4_ENST00000400822.3_Splice_Site_p.R1270C|MLLT4_ENST00000344191.4_Splice_Site_p.R1271C|MLLT4_ENST00000392108.3_Splice_Site_p.R1271C|MLLT4_ENST00000366806.2_Splice_Site_p.R1271C|MLLT4_ENST00000392112.1_Splice_Site_p.R1254C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1271					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)	p.R1271C(1)|p.R1255C(1)		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)		CTTTTTGCAGCGTGTTACACG	0.353			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(3808-3810)CGT>TGT		myeloid/lymphoid or mixed-lineage leukemia		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	44.0	46.0	45.0		3811,3760	5.2	1.0	6	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	MLLT4	NM_001040000.2,NM_001207008.1	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1271/1652,1254/1744	168351866	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	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.chr6:168351866C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3811-1C>T	6.37:g.168351866C>T						MLLT4_uc003qwb.1_Missense_Mutation_p.R1255C|MLLT4_uc003qwc.1_Missense_Mutation_p.R1271C|MLLT4_uc003qwg.1_Missense_Mutation_p.R580C	p.R1270C	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)	29	3950	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1271					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3808C>T		.	.	.	.	.	.	.	.	.	.	C	22.6	4.313877	0.81358	0.0	1.16E-4	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.06449	3.52;3.4;3.51;3.49;3.3;3.4;3.4	5.22	5.22	0.72569	.	0.063404	0.64402	D	0.000005	T	0.14570	0.0352	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	P;P;D;P	0.64237	0.794;0.899;0.923;0.851	T	0.01202	-1.1420	9	.	.	.	-5.3582	19.1774	0.93607	0.0:1.0:0.0:0.0	.	1271;1270;1271;1255	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	1271;1278;1271;1271;1254;1271;1270;1271	ENSP00000341118:R1271C;ENSP00000252692:R1278C;ENSP00000375956:R1271C;ENSP00000355771:R1271C;ENSP00000375960:R1254C;ENSP00000383623:R1270C;ENSP00000404595:R1271C	.	R	+	1	0	MLLT4	168094715	1.000000	0.71417	0.956000	0.39512	0.932000	0.56968	5.809000	0.69172	2.595000	0.87683	0.655000	0.94253	CGT		PASS	0.353	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Missense_Mutation	15	54	15	54	---	---	---	---
SLC29A4	222962	broad.mit.edu	37	7	5331371	5331371	+	Missense_Mutation	SNP	G	G	T	rs202005474		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:5331371G>T	ENST00000396872.3	+	5	624	c.463G>T	c.(463-465)Gtg>Ttg	p.V155L	SLC29A4_ENST00000406453.3_Silent_p.T142T|SLC29A4_ENST00000297195.4_Missense_Mutation_p.V155L			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	155					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.V155L(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CATCTGCGACGTGTGGCTGCA	0.637																																						uc003sod.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(463-465)GTG>TTG		solute carrier family 29 (nucleoside							75.0	71.0	73.0					7																	5331371		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5331371G>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.463G>T	7.37:g.5331371G>T	ENSP00000380081:p.Val155Leu					SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.V155L|SLC29A4_uc003soe.2_Silent_p.T142T	p.V155L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	5	624	+		Ovarian(82;0.0175)	155			Helical; (Potential).		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.463G>T	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	19.62	3.861309	0.71949	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000297195	T;T;T	0.33216	1.42;1.42;1.42	4.41	4.41	0.53225	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	T	0.35364	0.0929	M	0.70842	2.15	0.80722	D	1	B	0.13145	0.007	B	0.17098	0.017	T	0.21042	-1.0257	10	0.39692	T	0.17	-5.7833	15.189	0.73028	0.0:0.0:1.0:0.0	.	155	Q7RTT9	S29A4_HUMAN	L	155	ENSP00000406803:V155L;ENSP00000380081:V155L;ENSP00000297195:V155L	ENSP00000297195:V155L	V	+	1	0	SLC29A4	5297897	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	9.304000	0.96190	2.005000	0.58758	0.511000	0.50034	GTG		PASS	0.637	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		12	82	12	82	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21654792	21654792	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:21654792C>G	ENST00000409508.3	+	21	3944	c.3913C>G	c.(3913-3915)Ctt>Gtt	p.L1305V	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1305V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1305	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1305V(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATCTACTCGTCTTTTTGAAGT	0.398									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(3913-3915)CTT>GTT		dynein, axonemal, heavy chain 11							126.0	119.0	121.0					7																	21654792		1852	4095	5947	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21654792C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3913C>G	7.37:g.21654792C>G	ENSP00000475939:p.Leu1305Val						p.L1305V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			21	3944	+			1305			Potential.|Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3913C>G		.	.	.	.	.	.	.	.	.	.	C	18.27	3.586919	0.66105	.	.	ENSG00000105877	ENST00000328843	T	0.28454	1.61	5.37	5.37	0.77165	.	0.815252	0.10748	N	0.638695	T	0.28433	0.0703	.	.	.	0.53688	D	0.999974	B	0.20052	0.041	B	0.19666	0.026	T	0.04017	-1.0984	9	0.52906	T	0.07	.	12.4687	0.55775	0.0:0.922:0.0:0.078	.	1305	Q96DT5	DYH11_HUMAN	V	1305	ENSP00000330671:L1305V	ENSP00000330671:L1305V	L	+	1	0	DNAH11	21621317	0.984000	0.35163	0.916000	0.36221	0.995000	0.86356	2.682000	0.46934	2.659000	0.90383	0.655000	0.94253	CTT		PASS	0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		25	47	25	47	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21778398	21778398	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:21778398C>A	ENST00000409508.3	+	47	7756	c.7725C>A	c.(7723-7725)atC>atA	p.I2575I	DNAH11_ENST00000328843.6_Silent_p.I2582I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2582	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2582I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTATTTTATCGACGACATGA	0.383									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7744-7746)ATC>ATA		dynein, axonemal, heavy chain 11							52.0	53.0	53.0					7																	21778398		2117	4250	6367	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21778398C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7725C>A	7.37:g.21778398C>A							p.I2582I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			48	7777	+			2582			AAA 3 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.7746C>A																																																																																					PASS	0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	18	7	18	---	---	---	---
HOXA10	3206	broad.mit.edu	37	7	27213855	27213855	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:27213855G>T	ENST00000283921.4	-	1	70	c.71C>A	c.(70-72)cCc>cAc	p.P24H	HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|HOXA10_ENST00000396344.4_Intron|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	24					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P24H(1)|p.P7H(1)		breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GTTCGCGGCGGGGCTCTCCGA	0.592																																						uc011jzm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(70-72)CCC>CAC		homeobox A10 isoform a							54.0	60.0	58.0					7																	27213855		1137	2571	3708	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213855G>T		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.71C>A	7.37:g.27213855G>T	ENSP00000283921:p.Pro24His					HOXA10_uc003syw.3_Intron	p.P24H	NM_018951	NP_061824	P31260	HXA10_HUMAN			1	101	-			24					O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.71C>A	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010382	0.54361	.	.	ENSG00000253293	ENST00000283921;ENST00000381834	T	0.57107	0.42	5.28	5.28	0.74379	.	0.218241	0.30602	N	0.009265	T	0.74207	0.3686	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75013	-0.3467	10	0.45353	T	0.12	.	18.9074	0.92467	0.0:0.0:1.0:0.0	.	24	P31260	HXA10_HUMAN	H	24;7	ENSP00000283921:P24H	ENSP00000283921:P24H	P	-	2	0	HOXA10	27180380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.735000	0.84939	2.441000	0.82636	0.561000	0.74099	CCC		PASS	0.592	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			21	48	21	48	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35242129	35242129	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:35242129C>T	ENST00000408931.3	-	8	1783	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	419					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P419P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGTATCGCGGCATGTGGA	0.522																																						uc011kas.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1255-1257)CCG>CCA		T-box transcription factor TBX20							32.0	33.0	32.0					7																	35242129		1933	4132	6065	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35242129C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1257G>A	7.37:g.35242129C>T							p.P419P	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			8	1268	-			419					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.1257G>A	CCDS43568.1																																																																																				PASS	0.522	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		9	28	9	28	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55914210	55914210	+	Splice_Site	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:55914210C>G	ENST00000388975.3	-	3	291	c.175G>C	c.(175-177)Ggg>Cgg	p.G59R	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	59	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.G59R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGACACTTACCCACACAGAGA	0.333																																						uc003tqz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GGG>CGG		septin 14							163.0	159.0	160.0					7																	55914210		1859	4106	5965	SO:0001630	splice_region_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55914210C>G	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.175+1G>C	7.37:g.55914210C>G							p.G59R	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	292	-	Breast(14;0.214)		59			GTP (By similarity).		A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.175G>C	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	c	19.75	3.885638	0.72410	.	.	ENSG00000154997	ENST00000388975	D	0.90197	-2.63	4.4	4.4	0.53042	.	0.109437	0.38111	N	0.001810	D	0.96993	0.9018	H	0.97732	4.065	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98241	1.0488	9	.	.	.	.	15.2825	0.73797	0.0:1.0:0.0:0.0	.	59	Q6ZU15	SEP14_HUMAN	R	59	ENSP00000373627:G59R	.	G	-	1	0	SEPT14	55881704	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	6.488000	0.73637	2.385000	0.81259	0.655000	0.94253	GGG		PASS	0.333	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	Missense_Mutation	41	171	41	171	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73462840	73462840	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:73462840C>A	ENST00000252034.7	+	15	1152	c.753C>A	c.(751-753)ggC>ggA	p.G251G	ELN_ENST00000458204.1_Silent_p.G241G|ELN_ENST00000320399.6_Silent_p.G251G|ELN_ENST00000357036.5_Silent_p.G256G|ELN_ENST00000380584.4_Silent_p.G237G|ELN_ENST00000429192.1_Silent_p.G256G|ELN_ENST00000414324.1_Silent_p.G246G|ELN_ENST00000445912.1_Silent_p.G251G|ELN_ENST00000358929.4_Silent_p.G251G|ELN_ENST00000380562.4_Silent_p.G251G|ELN_ENST00000380553.4_Silent_p.G134G|ELN_ENST00000380575.4_Silent_p.G241G|ELN_ENST00000320492.7_Silent_p.G215G|ELN_ENST00000380576.5_Silent_p.G251G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	251	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.G251G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGGGGTTGGCCCCCAGgcag	0.622			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2				Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(751-753)GGC>GGA		elastin isoform a precursor	Rofecoxib(DB00533)						94.0	100.0	98.0					7																	73462840		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73462840C>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.753C>A	7.37:g.73462840C>A						RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_Intron|ELN_uc011kfe.1_Silent_p.G220G|ELN_uc003tzn.2_Silent_p.G251G|ELN_uc003tzz.2_Silent_p.G215G|ELN_uc003tzo.2_Silent_p.G237G|ELN_uc003tzp.2_Silent_p.G207G|ELN_uc003tzq.2_Silent_p.G134G|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.G251G|ELN_uc003tzt.2_Silent_p.G256G|ELN_uc003tzu.2_Silent_p.G256G|ELN_uc003tzv.2_Silent_p.G241G|ELN_uc003tzx.2_Silent_p.G241G|ELN_uc011kff.1_Silent_p.G251G|ELN_uc003tzy.2_Silent_p.G246G	p.G251G	NM_000501	NP_001075224	P15502	ELN_HUMAN			15	844	+		Lung NSC(55;0.159)	251			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.753C>A	CCDS5562.2																																																																																				PASS	0.622	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		24	157	24	157	---	---	---	---
POR	5447	broad.mit.edu	37	7	75613147	75613147	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:75613147G>T	ENST00000461988.1	+	10	1144	c.1039G>T	c.(1039-1041)Gtc>Ttc	p.V347F	POR_ENST00000419840.1_Missense_Mutation_p.V161F|POR_ENST00000394893.1_Missense_Mutation_p.V347F|POR_ENST00000439269.1_Missense_Mutation_p.V85F|POR_ENST00000545601.1_Missense_Mutation_p.V155F|POR_ENST00000450476.1_Missense_Mutation_p.V246F	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	344	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)	p.V344F(1)|p.V246F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CGACCTGGACGTCGTCATGTC	0.632																																						uc003udy.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1039-1041)GTC>TTC		cytochrome P450 reductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						34.0	39.0	37.0					7																	75613147		2069	4200	6269	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75613147G>T	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.1039G>T	7.37:g.75613147G>T	ENSP00000419970:p.Val347Phe					POR_uc011kgc.1_Missense_Mutation_p.V155F|POR_uc011kgd.1_Missense_Mutation_p.V246F|POR_uc011kge.1_Missense_Mutation_p.V85F|POR_uc003uea.2_5'Flank	p.V347F	NM_000941	NP_000932	P16435	NCPR_HUMAN			10	1121	+			344			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.1039G>T	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.319|8.319	0.823922|0.823922	0.16678|0.16678	.|.	.|.	ENSG00000127948|ENSG00000127948	ENST00000447222|ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269	.|T;T;T;T;T;T	.|0.66280	.|-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.61|4.61	1.78|1.78	0.24846|0.24846	.|Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	.|0.518600	.|0.21057	.|N	.|0.080899	T|T	0.46308|0.46308	0.1386|0.1386	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;P;B;B	.|0.45715	.|0.019;0.865;0.378;0.432	.|B;P;B;B	.|0.45119	.|0.036;0.47;0.174;0.179	T|T	0.36065|0.36065	-0.9763|-0.9763	5|10	.|0.62326	.|D	.|0.03	-36.6866|-36.6866	4.7811|4.7811	0.13202|0.13202	0.4006:0.1516:0.4479:0.0|0.4006:0.1516:0.4479:0.0	.|.	.|344;246;155;353	.|P16435;E7EVY7;F5H468;Q59ED7	.|NCPR_HUMAN;.;.;.	L|F	397|347;161;347;155;246;85	.|ENSP00000419970:V347F;ENSP00000414244:V161F;ENSP00000378355:V347F;ENSP00000446149:V155F;ENSP00000416572:V246F;ENSP00000412490:V85F	.|ENSP00000378355:V347F	R|V	+|+	2|1	0|0	POR|POR	75451083|75451083	0.002000|0.002000	0.14202|0.14202	0.083000|0.083000	0.20561|0.20561	0.104000|0.104000	0.19210|0.19210	0.594000|0.594000	0.24014|0.24014	0.590000|0.590000	0.29694|0.29694	-0.282000|-0.282000	0.10007|0.10007	CGT|GTC		PASS	0.632	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		6	14	6	14	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86394673	86394673	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:86394673C>T	ENST00000361669.2	+	2	1311	c.212C>T	c.(211-213)gCc>gTc	p.A71V	GRM3_ENST00000439827.1_Missense_Mutation_p.A71V|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A69V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	71					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.A71V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CGCCTGGAAGCCATGTTGTTT	0.428																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(211-213)GCC>GTC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						161.0	150.0	154.0					7																	86394673		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394673C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.212C>T	7.37:g.86394673C>T	ENSP00000355316:p.Ala71Val					GRM3_uc010lef.2_Missense_Mutation_p.A69V|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.A71V	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1311	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		71			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.212C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145041	0.94603	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.79;-2.79	5.24	5.24	0.73138	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96551	0.9408	10	0.87932	D	0	.	17.9854	0.89154	0.0:1.0:0.0:0.0	.	71;71	G5E9K2;Q14832	.;GRM3_HUMAN	V	71;71;69;71;71	ENSP00000355316:A71V;ENSP00000398767:A71V;ENSP00000378209:A69V;ENSP00000390037:A71V;ENSP00000407490:A71V	ENSP00000355316:A71V	A	+	2	0	GRM3	86232609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.645000	0.83430	2.732000	0.93576	0.655000	0.94253	GCC		PASS	0.428	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			57	147	57	147	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86479772	86479773	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:86479772_86479773CC>TG	ENST00000361669.2	+	5	3577_3578	c.2478_2479CC>TG	c.(2476-2481)atCCtg>atTGtg	p.L827V	GRM3_ENST00000439827.1_Missense_Mutation_p.P471C|GRM3_ENST00000536043.1_Missense_Mutation_p.L699V|GRM3_ENST00000546348.1_Missense_Mutation_p.L419V|GRM3_ENST00000394720.2_Missense_Mutation_p.P469C	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	827					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.L827V(2)|p.I826I(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TTCACATCATCCTGTTTCAACC	0.49																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2476-2478)ATC>ATT|c.(2479-2481)CTG>GTG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)																																			SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86479772C>T|g.chr7:86479773C>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	Exception_encountered	7.37:g.86479772_86479773delinsTG	ENSP00000355316:p.Leu827Val					GRM3_uc010lef.2_Missense_Mutation_p.P469S|GRM3_uc010leg.2_Silent_p.I698I|GRM3_uc010leh.2_Silent_p.I418I|GRM3_uc010lef.2_Missense_Mutation_p.P469R|GRM3_uc010leg.2_Missense_Mutation_p.L699V|GRM3_uc010leh.2_Missense_Mutation_p.L419V	p.I826I|p.L827V	NM_000840	NP_000831	Q14832	GRM3_HUMAN			5	3577|3578	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		826|827			Helical; Name=7; (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent|Missense_Mutation	SNP	ENST00000361669.2	37	c.2478C>T|c.2479C>G	CCDS5600.1																																																																																				PASS	0.490	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			29	82|81	29	81	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92028042	92028042	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:92028042G>C	ENST00000265742.3	+	20	3425	c.3049G>C	c.(3049-3051)Gtg>Ctg	p.V1017L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	1017							zinc ion binding (GO:0008270)	p.V1017L(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTGGAACTGGTGCTGCCAGA	0.468																																						uc003ulw.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(3049-3051)GTG>CTG		ankyrin repeat and IBR domain containing 1							64.0	65.0	65.0					7																	92028042		1966	4156	6122	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92028042G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.3049G>C	7.37:g.92028042G>C	ENSP00000265742:p.Val1017Leu					ANKIB1_uc010lew.1_Missense_Mutation_p.V286L	p.V1017L	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3425	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		1017					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.3049G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244839	0.22796	.	.	ENSG00000001629	ENST00000265742	T	0.09723	2.95	5.24	1.28	0.21552	.	1.144190	0.06283	N	0.697857	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.40608	-0.9554	10	0.44086	T	0.13	.	5.8578	0.18730	0.2224:0.0:0.6429:0.1347	.	369;1017	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	L	1017	ENSP00000265742:V1017L	ENSP00000265742:V1017L	V	+	1	0	ANKIB1	91865978	0.184000	0.23200	0.002000	0.10522	0.671000	0.39405	1.679000	0.37597	0.123000	0.18342	0.650000	0.86243	GTG		PASS	0.468	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			11	50	11	50	---	---	---	---
PEG10	23089	broad.mit.edu	37	7	94293392	94293392	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:94293392G>C	ENST00000482108.1	+	2	1003	c.524G>C	c.(523-525)cGc>cCc	p.R175P	PEG10_ENST00000488574.1_Missense_Mutation_p.R175P	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	175	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R175H(1)|p.R175P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGACGCCTGCGCCAAGGCATG	0.527																																						uc011kie.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(751-753)CGC>CCC		paternally expressed 10 isoform RF1							140.0	146.0	144.0					7																	94293392		2020	4177	6197	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293392G>C	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.524G>C	7.37:g.94293392G>C	ENSP00000417587:p.Arg175Pro						p.R251P	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	969	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		175			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.752G>C	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763842	0.49574	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14640	2.49;2.49	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.32346	0.0826	L	0.58510	1.815	0.25498	N	0.987588	D;D	0.71674	0.998;0.998	D;D	0.67725	0.953;0.953	T	0.03852	-1.0998	9	0.66056	D	0.02	.	14.1258	0.65219	0.0:0.0:1.0:0.0	.	251;175	B4DSP0;Q86TG7	.;PEG10_HUMAN	P	175	ENSP00000417587:R175P;ENSP00000418944:R175P	ENSP00000417587:R175P	R	+	2	0	PEG10	94131328	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.305000	0.43664	2.276000	0.75962	0.555000	0.69702	CGC		PASS	0.527	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		32	264	32	264	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103293160	103293160	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:103293160G>A	ENST00000428762.1	-	14	1760	c.1601C>T	c.(1600-1602)cCt>cTt	p.P534L	RELN_ENST00000424685.2_Missense_Mutation_p.P534L|RELN_ENST00000343529.5_Missense_Mutation_p.P534L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	534					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)	p.P534L(1)		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)		TTTGGTAGCAGGAGTCTGAAG	0.428																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1600-1602)CCT>CTT		reelin isoform a							122.0	124.0	123.0					7																	103293160		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103293160G>A		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.1601C>T	7.37:g.103293160G>A	ENSP00000392423:p.Pro534Leu					RELN_uc010liz.2_Missense_Mutation_p.P534L	p.P534L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	14	1761	-			534					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1601C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602096	0.87055	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22945	1.93;1.93;1.93	5.67	4.79	0.61399	.	0.056273	0.64402	D	0.000001	T	0.41581	0.1165	L	0.34521	1.04	0.80722	D	1	D;P	0.89917	1.0;0.906	D;B	0.91635	0.999;0.444	T	0.38045	-0.9679	10	0.66056	D	0.02	.	16.4245	0.83810	0.0:0.0:0.8675:0.1325	.	534;534	P78509-2;P78509	.;RELN_HUMAN	L	534	ENSP00000392423:P534L;ENSP00000345694:P534L;ENSP00000388446:P534L	ENSP00000345694:P534L	P	-	2	0	RELN	103080396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.586000	0.82596	1.519000	0.48950	0.655000	0.94253	CCT		PASS	0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		47	158	47	158	---	---	---	---
GPR85	54329	broad.mit.edu	37	7	112724772	112724772	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:112724772G>C	ENST00000297146.3	-	3	608	c.5C>G	c.(4-6)gCg>gGg	p.A2G	GPR85_ENST00000449591.1_Missense_Mutation_p.A2G|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.A2G|GPR85_ENST00000424100.1_Missense_Mutation_p.A2G	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	2					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A2V(1)|p.A2G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCTATAGTTCGCCATAGATGG	0.398																																						uc010ljv.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)|central_nervous_system(1)	2						c.(4-6)GCG>GGG		G protein-coupled receptor 85							27.0	27.0	27.0					7																	112724772		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724772G>C	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.5C>G	7.37:g.112724772G>C	ENSP00000297146:p.Ala2Gly					GPR85_uc003vgp.1_Missense_Mutation_p.A2G|GPR85_uc003vgq.2_Missense_Mutation_p.A2G|GPR85_uc010ljw.1_Missense_Mutation_p.A2G	p.A2G	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	522	-			2			Extracellular (Potential).		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.5C>G	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908863	0.52439	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591;ENST00000449735;ENST00000438062	T;T;T;T;T	0.60548	0.54;0.54;0.54;0.54;0.18	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	N	0.08118	0	0.80722	D	1	B	0.30851	0.297	B	0.21360	0.034	T	0.33675	-0.9859	10	0.46703	T	0.11	.	19.7321	0.96186	0.0:0.0:1.0:0.0	.	2	P60893	GPR85_HUMAN	G	2	ENSP00000445808:A2G;ENSP00000297146:A2G;ENSP00000396763:A2G;ENSP00000401178:A2G;ENSP00000415699:A2G	ENSP00000297146:A2G	A	-	2	0	GPR85	112512008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.668000	0.90789	0.655000	0.94253	GCG		PASS	0.398	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			15	31	15	31	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113517799	113517799	+	Silent	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:113517799T>C	ENST00000284601.3	-	4	3416	c.3348A>G	c.(3346-3348)aaA>aaG	p.K1116K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1116					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.K1116K(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGACAGACTCTTTTTGTCTAC	0.363																																						uc010ljy.1																			1	Substitution - coding silent(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(3346-3348)AAA>AAG		protein phosphatase 1, regulatory (inhibitor)							95.0	95.0	95.0					7																	113517799		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113517799T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3348A>G	7.37:g.113517799T>C							p.K1116K	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	3379	-			1116					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.3348A>G	CCDS5759.1																																																																																				PASS	0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		56	134	56	134	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123593754	123593754	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:123593754A>T	ENST00000439500.1	+	4	743	c.130A>T	c.(130-132)Att>Ttt	p.I44F	SPAM1_ENST00000223028.7_Missense_Mutation_p.I44F|SPAM1_ENST00000340011.5_Missense_Mutation_p.I44F|SPAM1_ENST00000402183.2_Missense_Mutation_p.I44F|SPAM1_ENST00000460182.1_Missense_Mutation_p.I44F	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	44					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.I44F(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCTCCTGTTATTCCAAATGT	0.418																																						uc003vld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)	4						c.(130-132)ATT>TTT		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						67.0	61.0	63.0					7																	123593754		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123593754A>T	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.130A>T	7.37:g.123593754A>T	ENSP00000402123:p.Ile44Phe					SPAM1_uc003vle.2_Missense_Mutation_p.I44F|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.I44F|SPAM1_uc010lku.2_Missense_Mutation_p.I44F	p.I44F	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	532	+			44					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.130A>T	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136126	0.37728	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	6.03	-7.89	0.01174	Aldolase-type TIM barrel (1);	0.481200	0.22721	N	0.056448	T	0.13243	0.0321	L	0.52364	1.645	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.25759	0.063;0.063	T	0.18871	-1.0323	10	0.25751	T	0.34	-8.0637	0.938	0.01349	0.2419:0.2829:0.13:0.3452	.	44;44	Q8TC30;P38567	.;HYALP_HUMAN	F	44	ENSP00000386028:I44F;ENSP00000391491:I44F;ENSP00000417934:I44F;ENSP00000345849:I44F;ENSP00000402123:I44F;ENSP00000223028:I44F	ENSP00000223028:I44F	I	+	1	0	SPAM1	123380990	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.395000	0.02516	-1.266000	0.02446	-0.336000	0.08194	ATT		PASS	0.418	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			21	91	21	91	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131887566	131887566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:131887566C>A	ENST00000359827.3	-	12	3387	c.2425G>T	c.(2425-2427)Gag>Tag	p.E809*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.E809*			Q9HCM2	PLXA4_HUMAN	plexin A4	809	PSI 3.				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)	p.E809*(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCAGCTCTCACGCATGGCT	0.647																																						uc003vra.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(2425-2427)GAG>TAG		plexin A4 isoform 1							21.0	22.0	22.0					7																	131887566		2158	4280	6438	SO:0001587	stop_gained	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131887566C>A	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.2425G>T	7.37:g.131887566C>A	ENSP00000352882:p.Glu809*						p.E809*	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			12	2654	-			809			PSI 3.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	c.2425G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	42	9.378305	0.99153	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	.	.	.	4.41	3.51	0.40186	.	0.427519	0.26003	N	0.026927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	13.191	0.59711	0.0:0.6645:0.3355:0.0	.	.	.	.	X	809	.	ENSP00000323194:E809X	E	-	1	0	PLXNA4	131538106	0.994000	0.37717	0.872000	0.34217	0.954000	0.61252	3.144000	0.50616	1.190000	0.43042	0.561000	0.74099	GAG		PASS	0.647	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	27	8	27	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142641733	142641733	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:142641733G>T	ENST00000355265.2	-	12	1884	c.1410C>A	c.(1408-1410)gaC>gaA	p.D470E	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	470					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.D470E(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCTGACCTTGTCCTGGGCCA	0.567																																						uc003wcb.2																			1	Substitution - Missense(1)	p.D470N(1)	lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1408-1410)GAC>GAA		Kell blood group, metallo-endopeptidase							60.0	51.0	54.0					7																	142641733		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142641733G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1410C>A	7.37:g.142641733G>T	ENSP00000347409:p.Asp470Glu						p.D470E	NM_000420	NP_000411	P23276	KELL_HUMAN			12	1620	-	Melanoma(164;0.059)		470			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1410C>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.797077	0.00617	.	.	ENSG00000197993	ENST00000355265	T	0.68765	-0.35	4.68	2.85	0.33270	Peptidase M13 (1);	0.442672	0.18862	N	0.129096	T	0.41558	0.1164	N	0.20685	0.6	0.22940	N	0.99853	B	0.17465	0.022	B	0.16722	0.016	T	0.30534	-0.9975	10	0.02654	T	1	-3.6059	5.7586	0.18186	0.0994:0.0:0.7101:0.1906	.	470	P23276	KELL_HUMAN	E	470	ENSP00000347409:D470E	ENSP00000347409:D470E	D	-	3	2	KEL	142351855	0.998000	0.40836	0.992000	0.48379	0.027000	0.11550	1.853000	0.39358	0.581000	0.29539	-0.518000	0.04402	GAC		PASS	0.567	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		7	38	7	38	---	---	---	---
CTAGE6	340307	broad.mit.edu	37	7	143453479	143453479	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:143453479G>C	ENST00000470691.2	-	1	1310	c.1273C>G	c.(1273-1275)Cgt>Ggt	p.R425G	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	425						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					TCAGTGGCACGGCTGAGCTTT	0.378																																						uc003wdk.3																			0					0						c.(1273-1275)CGT>GGT		CTAGE family, member 6							148.0	133.0	137.0					7																	143453479		1979	4183	6162	SO:0001583	missense	340307					integral to membrane		g.chr7:143453479G>C	BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1273C>G	7.37:g.143453479G>C	ENSP00000474388:p.Arg425Gly					uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron	p.R425G	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN			1	1365	-	Melanoma(164;0.0903)		425			Potential.		A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37	c.1273C>G																																																																																					PASS	0.378	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		17	276	17	276	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147092850	147092850	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:147092850G>A	ENST00000361727.3	+	10	2164	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	550	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D550N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTCAGCATTGACATGTGTGC	0.428										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1648-1650)GAC>AAC		cell recognition molecule Caspr2 precursor							154.0	136.0	142.0					7																	147092850		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092850G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1648G>A	7.37:g.147092850G>A	ENSP00000354778:p.Asp550Asn	HNSCC(39;0.1)					p.D550N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2164	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	550			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1648G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240983	0.95272	.	.	ENSG00000174469	ENST00000361727	T	0.76316	-1.01	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000002	T	0.81138	0.4760	M	0.73372	2.23	0.80722	D	1	B	0.33964	0.434	B	0.40285	0.325	T	0.81904	-0.0719	10	0.54805	T	0.06	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	550	Q9UHC6	CNTP2_HUMAN	N	550	ENSP00000354778:D550N	ENSP00000354778:D550N	D	+	1	0	CNTNAP2	146723783	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC		PASS	0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			58	143	58	143	---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154863283	154863283	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:154863283A>G	ENST00000287907.2	+	1	1250	c.674A>G	c.(673-675)aAg>aGg	p.K225R	HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	225					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.K225R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	AAGATCTACAAGGCTGCCAAG	0.557																																						uc003wlu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(673-675)AAG>AGG		5-hydroxytryptamine receptor 5A							82.0	77.0	79.0					7																	154863283		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863283A>G		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.674A>G	7.37:g.154863283A>G	ENSP00000287907:p.Lys225Arg					uc011kvt.1_5'Flank|uc003wlt.2_5'Flank	p.K225R	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	738	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	225			Cytoplasmic (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.674A>G	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169575	0.38315	.	.	ENSG00000157219	ENST00000287907	T	0.35236	1.32	4.76	0.967	0.19674	GPCR, rhodopsin-like superfamily (1);	0.142514	0.64402	N	0.000007	T	0.18130	0.0435	N	0.20845	0.615	0.45867	D	0.998727	B	0.25486	0.127	B	0.28638	0.092	T	0.19647	-1.0299	10	0.02654	T	1	.	9.4475	0.38706	0.7125:0.0:0.2875:0.0	.	225	P47898	5HT5A_HUMAN	R	225	ENSP00000287907:K225R	ENSP00000287907:K225R	K	+	2	0	HTR5A	154494216	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	3.352000	0.52239	0.020000	0.15106	-0.263000	0.10527	AAG		PASS	0.557	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		9	73	9	73	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158663842	158663842	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr7:158663842T>C	ENST00000407559.3	+	3	237	c.79T>C	c.(79-81)Tca>Cca	p.S27P		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	27					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S27P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GGCCATACAGTCAGGTGGTTC	0.488																																						uc003woe.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(79-81)TCA>CCA		WD repeat domain 60							50.0	53.0	52.0					7																	158663842		1971	4150	6121	SO:0001583	missense	55112							g.chr7:158663842T>C		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.79T>C	7.37:g.158663842T>C	ENSP00000384290:p.Ser27Pro						p.S27P	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	3	237	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	27					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.79T>C	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.119896	0.37436	.	.	ENSG00000126870	ENST00000407559;ENST00000397143	T;T	0.69435	1.71;-0.4	5.0	0.996	0.19844	.	1.043680	0.07507	N	0.908232	T	0.64450	0.2599	L	0.47716	1.5	0.09310	N	1	P	0.48911	0.917	P	0.46049	0.502	T	0.54077	-0.8347	10	0.41790	T	0.15	-3.7322	11.167	0.48550	0.0:0.0:0.5059:0.4941	.	27	Q8WVS4	WDR60_HUMAN	P	27;37	ENSP00000384290:S27P;ENSP00000380330:S37P	ENSP00000380330:S37P	S	+	1	0	WDR60	158356603	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.235000	0.17948	-0.010000	0.14271	-0.313000	0.08912	TCA		PASS	0.488	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		3	46	3	46	---	---	---	---
BLK	640	broad.mit.edu	37	8	11400774	11400774	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:11400774C>T	ENST00000259089.4	+	2	633	c.41C>T	c.(40-42)cCg>cTg	p.P14L	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	14					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P14L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AAGGAAAAGCCGATCAAAGAG	0.602																																						uc003wty.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|stomach(1)|ovary(1)	3						c.(40-42)CCG>CTG		B lymphoid tyrosine kinase							79.0	82.0	81.0					8																	11400774		2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11400774C>T	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.41C>T	8.37:g.11400774C>T	ENSP00000259089:p.Pro14Leu					BLK_uc003wtz.2_Intron	p.P14L	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	2	622	+			14					Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.41C>T	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	C	8.954	0.968926	0.18659	.	.	ENSG00000136573	ENST00000259089;ENST00000427279	T	0.73575	-0.76	0.426	-0.852	0.10713	.	0.382337	0.18702	N	0.133549	T	0.45276	0.1334	N	0.08118	0	0.28783	N	0.899738	B	0.18610	0.029	B	0.04013	0.001	T	0.19386	-1.0307	9	0.24483	T	0.36	.	.	.	.	.	14	P51451	BLK_HUMAN	L	14	ENSP00000259089:P14L	ENSP00000259089:P14L	P	+	2	0	BLK	11438183	0.402000	0.25311	0.224000	0.23877	0.348000	0.29142	0.204000	0.17335	-0.657000	0.05373	0.195000	0.17529	CCG		PASS	0.602	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			17	45	17	45	---	---	---	---
MCM4	4173	broad.mit.edu	37	8	48878887	48878887	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:48878887C>G	ENST00000262105.2	+	8	1182	c.973C>G	c.(973-975)Ccc>Gcc	p.P325A	MCM4_ENST00000523944.1_Missense_Mutation_p.P325A	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	325					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.P325A(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CATTGCAGAGCCCAGTGTGTG	0.642																																						uc003xqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(973-975)CCC>GCC		minichromosome maintenance complex component 4							54.0	49.0	51.0					8																	48878887		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48878887C>G		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.973C>G	8.37:g.48878887C>G	ENSP00000262105:p.Pro325Ala					MCM4_uc003xql.1_Missense_Mutation_p.P325A|MCM4_uc011ldi.1_Missense_Mutation_p.P312A	p.P325A	NM_182746	NP_877423	P33991	MCM4_HUMAN			9	1068	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	325					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.973C>G	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066232	0.76187	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.07114	3.22;3.22	5.61	5.61	0.85477	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57230	-0.7847	10	0.87932	D	0	-30.0527	19.998	0.97395	0.0:1.0:0.0:0.0	.	325;325	B3KMX0;P33991	.;MCM4_HUMAN	A	325;325;312;285	ENSP00000430194:P325A;ENSP00000262105:P325A	ENSP00000262105:P325A	P	+	1	0	MCM4	49041440	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	7.308000	0.78929	2.804000	0.96469	0.462000	0.41574	CCC		PASS	0.642	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		18	56	18	56	---	---	---	---
ST18	9705	broad.mit.edu	37	8	53071463	53071463	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:53071463C>T	ENST00000276480.7	-	15	2484	c.1801G>A	c.(1801-1803)Gcc>Acc	p.A601T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	601					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A601T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCTACCTTGGCATGCAGACTC	0.547																																						uc003xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1801-1803)GCC>ACC		suppression of tumorigenicity 18							105.0	107.0	106.0					8																	53071463		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53071463C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1801G>A	8.37:g.53071463C>T	ENSP00000276480:p.Ala601Thr					ST18_uc011ldq.1_Missense_Mutation_p.A248T|ST18_uc011ldr.1_Missense_Mutation_p.A566T|ST18_uc011lds.1_Missense_Mutation_p.A506T|ST18_uc003xra.2_Missense_Mutation_p.A601T|ST18_uc003xrb.2_Missense_Mutation_p.A601T	p.A601T	NM_014682	NP_055497	O60284	ST18_HUMAN			10	1957	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	601					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1801G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563627	0.86335	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.44083	0.93;0.93	6.08	6.08	0.98989	Myelin transcription factor 1 (1);	0.098770	0.64402	D	0.000001	T	0.62986	0.2473	L	0.55481	1.735	0.58432	D	0.999998	D;D	0.89917	1.0;0.966	D;P	0.91635	0.999;0.789	T	0.55483	-0.8134	10	0.40728	T	0.16	-18.5405	20.6634	0.99662	0.0:1.0:0.0:0.0	.	601;601	E5RHS3;O60284	.;ST18_HUMAN	T	601	ENSP00000276480:A601T;ENSP00000428521:A601T	ENSP00000276480:A601T	A	-	1	0	ST18	53234016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.110000	0.64622	2.894000	0.99253	0.655000	0.94253	GCC		PASS	0.547	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			56	171	56	171	---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54684613	54684613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:54684613C>A	ENST00000359530.2	-	10	1248	c.985G>T	c.(985-987)Gaa>Taa	p.E329*	ATP6V1H_ENST00000355221.3_Nonsense_Mutation_p.E311*|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.E289*|ATP6V1H_ENST00000523899.1_5'Flank|ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.E329*	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	329					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.E311*(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CTGATATCTTCATCATCGTAC	0.393																																						uc003xrl.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(985-987)GAA>TAA		ATPase, H+ transporting, lysosomal 50/57kDa, V1							130.0	118.0	122.0					8																	54684613		2203	4300	6503	SO:0001587	stop_gained	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54684613C>A	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.985G>T	8.37:g.54684613C>A	ENSP00000352522:p.Glu329*					ATP6V1H_uc003xrk.2_Nonsense_Mutation_p.E289*|ATP6V1H_uc003xrm.2_Nonsense_Mutation_p.E329*|ATP6V1H_uc003xrn.2_Nonsense_Mutation_p.E311*|ATP6V1H_uc011ldv.1_Nonsense_Mutation_p.E249*|ATP6V1H_uc010lyd.2_Nonsense_Mutation_p.E265*	p.E329*	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		10	1137	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	329					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Nonsense_Mutation	SNP	ENST00000359530.2	37	c.985G>T	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	C	41	8.843209	0.98974	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-22.4354	19.1196	0.93357	0.0:1.0:0.0:0.0	.	.	.	.	X	311;289;329;329	.	ENSP00000347359:E311X	E	-	1	0	ATP6V1H	54847166	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.776000	0.85560	2.581000	0.87130	0.609000	0.83330	GAA		PASS	0.393	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941		71	141	71	141	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61750802	61750802	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:61750802C>T	ENST00000423902.2	+	19	5000	c.4521C>T	c.(4519-4521)tcC>tcT	p.S1507S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1507					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S1507S(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAAAGGTTCCACATTTGCTA	0.418																																						uc003xue.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4519-4521)TCC>TCT		chromodomain helicase DNA binding protein 7							57.0	52.0	54.0					8																	61750802		1910	4120	6030	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61750802C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4521C>T	8.37:g.61750802C>T							p.S1507S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		19	4998	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1507					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.4521C>T	CCDS47865.1																																																																																				PASS	0.418	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	23	7	23	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72967808	72967808	+	Missense_Mutation	SNP	C	C	A	rs370845529		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:72967808C>A	ENST00000262209.4	-	12	1599	c.1392G>T	c.(1390-1392)agG>agT	p.R464S	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	464					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.R464S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTTGTAGGAGCCTCTGACAGG	0.388																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(1390-1392)AGG>AGT		ankyrin-like protein 1	Menthol(DB00825)						60.0	62.0	61.0					8																	72967808		2203	4297	6500	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72967808C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1392G>T	8.37:g.72967808C>A	ENSP00000262209:p.Arg464Ser						p.R464S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		12	1567	-			464			ANK 11.|Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1392G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327653	0.60743	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64260	-0.09;-0.09	5.27	0.766	0.18476	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.74881	2.28	0.50039	D	0.999846	D	0.89917	1.0	D	0.64506	0.926	T	0.66011	-0.6029	10	0.24483	T	0.36	-22.7347	8.2968	0.31990	0.0:0.4544:0.0:0.5456	.	464	O75762	TRPA1_HUMAN	S	316;464	ENSP00000428151:R316S;ENSP00000262209:R464S	ENSP00000262209:R464S	R	-	3	2	TRPA1	73130362	0.733000	0.28132	0.999000	0.59377	0.986000	0.74619	-0.157000	0.10085	0.207000	0.20607	-0.259000	0.10710	AGG		PASS	0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		36	167	36	167	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480336	73480336	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:73480336C>A	ENST00000523207.1	+	2	955	c.367C>A	c.(367-369)Ctt>Att	p.L123I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	123					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.L123I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGGCCAAGAACTTGATTACTG	0.453																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(367-369)CTT>ATT		potassium voltage-gated channel, Shab-related							94.0	99.0	97.0					8																	73480336		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480336C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.367C>A	8.37:g.73480336C>A	ENSP00000430846:p.Leu123Ile						p.L123I	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	955	+	Breast(64;0.137)		123			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.367C>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223638	0.58668	.	.	ENSG00000182674	ENST00000523207	T	0.77098	-1.07	6.07	6.07	0.98685	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.30602	U	0.009280	D	0.88258	0.6388	M	0.75447	2.3	0.52099	D	0.99994	D	0.89917	1.0	D	0.97110	1.0	D	0.84986	0.0891	10	0.32370	T	0.25	.	20.2697	0.98465	0.0:1.0:0.0:0.0	.	123	Q92953	KCNB2_HUMAN	I	123	ENSP00000430846:L123I	ENSP00000430846:L123I	L	+	1	0	KCNB2	73642890	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.893000	0.63199	2.885000	0.99019	0.655000	0.94253	CTT		PASS	0.453	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		75	162	75	162	---	---	---	---
TERF1	7013	broad.mit.edu	37	8	73958325	73958325	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:73958325A>G	ENST00000276603.5	+	10	1296	c.1273A>G	c.(1273-1275)Agg>Ggg	p.R425G	TERF1_ENST00000276602.6_Missense_Mutation_p.R405G|RP11-531A24.7_ENST00000607665.1_RNA	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	425	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)	p.R405G(1)|p.R425G(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AGACAGATGGAGGACCATGAA	0.383																																						uc003xzd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1273-1275)AGG>GGG		telomeric repeat binding factor 1 isoform 1							62.0	61.0	62.0					8																	73958325		2202	4297	6499	SO:0001583	missense	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73958325A>G	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1273A>G	8.37:g.73958325A>G	ENSP00000276603:p.Arg425Gly					TERF1_uc003xze.2_Missense_Mutation_p.R405G	p.R425G	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		10	1298	+	Breast(64;0.218)		425			H-T-H motif.|HTH myb-type.		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.1273A>G	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.885195	0.72410	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	T;T	0.48201	0.82;0.82	5.52	2.96	0.34315	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81976	-0.0686	10	0.87932	D	0	.	11.588	0.50929	0.7182:0.2817:0.0:0.0	.	405;425	P54274-2;P54274	.;TERF1_HUMAN	G	425;405	ENSP00000276603:R425G;ENSP00000276602:R405G	ENSP00000276602:R405G	R	+	1	2	TERF1	74120879	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.616000	0.46376	0.893000	0.36288	0.455000	0.32223	AGG		PASS	0.383	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		25	129	25	129	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767923	77767923	+	Silent	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:77767923A>G	ENST00000521891.2	+	10	9214	c.8766A>G	c.(8764-8766)aaA>aaG	p.K2922K	ZFHX4_ENST00000050961.6_Silent_p.K2877K|ZFHX4_ENST00000518282.1_Silent_p.K2896K|ZFHX4_ENST00000455469.2_Silent_p.K2877K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2877					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.K2906K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTAAATCCAAAAGTAATGATC	0.512										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8629-8631)AAA>AAG		zinc finger homeodomain 4							52.0	51.0	51.0					8																	77767923		1903	4112	6015	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767923A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8766A>G	8.37:g.77767923A>G		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.K2922K|ZFHX4_uc003yaw.1_Silent_p.K2877K	p.K2877K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9018	+			2877					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.8631A>G	CCDS47878.2																																																																																				PASS	0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	87	21	87	---	---	---	---
PMP2	5375	broad.mit.edu	37	8	82359589	82359589	+	Silent	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:82359589A>T	ENST00000256103.2	-	1	169	c.33T>A	c.(31-33)ctT>ctA	p.L11L	PMP2_ENST00000519260.1_Silent_p.L11L|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	11					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.L11L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			CACTAGAGACAAGTTTCCAGG	0.418																																						uc003ycb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)CTT>CTA		peripheral myelin protein 2							115.0	110.0	112.0					8																	82359589		2203	4300	6503	SO:0001819	synonymous_variant	5375					cytoplasm	cholesterol binding|fatty acid binding|transporter activity	g.chr8:82359589A>T	X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"""Fatty acid binding protein family"""	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.33T>A	8.37:g.82359589A>T						PMP2_uc010lzv.1_RNA	p.L11L	NM_002677	NP_002668	P02689	MYP2_HUMAN	Epithelial(68;0.186)		1	131	-			11					Q6FHL4	Silent	SNP	ENST00000256103.2	37	c.33T>A	CCDS6229.1																																																																																				PASS	0.418	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379365.1	NM_002677		31	188	31	188	---	---	---	---
RALYL	138046	broad.mit.edu	37	8	85441619	85441619	+	Silent	SNP	C	C	A	rs373186367		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:85441619C>A	ENST00000521268.1	+	2	1168	c.63C>A	c.(61-63)tcC>tcA	p.S21S	RALYL_ENST00000522455.1_Silent_p.S21S|RALYL_ENST00000521695.1_Silent_p.S21S|RALYL_ENST00000518566.1_Silent_p.S21S|RALYL_ENST00000517638.1_Silent_p.S34S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	21	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S21S(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCATCAACTCCCGTGTTTTCA	0.398																																						uc003ycq.3																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(61-63)TCC>TCA		RALY RNA binding protein-like isoform 2							65.0	69.0	68.0					8																	85441619		2001	4199	6200	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85441619C>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.63C>A	8.37:g.85441619C>A						RALYL_uc003ycr.3_Silent_p.S21S|RALYL_uc003ycs.3_Silent_p.S21S|RALYL_uc010lzy.2_Silent_p.S21S|RALYL_uc003yct.3_Silent_p.S34S	p.S21S	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			3	479	+			21			RRM.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.63C>A	CCDS55253.1																																																																																				PASS	0.398	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			10	47	10	47	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:87738864G>A	ENST00000320005.5	-	3	280	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	78					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.S78F(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(232-234)TCC>TTC		cyclic nucleotide gated channel beta 3							220.0	223.0	222.0					8																	87738864		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87738864G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.233C>T	8.37:g.87738864G>A	ENSP00000316605:p.Ser78Phe						p.S78F	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			3	279	-			78			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.233C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772841	0.31411	.	.	ENSG00000170289	ENST00000320005	T	0.34859	1.34	5.43	1.63	0.23807	.	1.003660	0.08041	U	0.995151	T	0.26304	0.0642	L	0.34521	1.04	0.09310	N	1	P	0.40476	0.718	B	0.36808	0.233	T	0.19128	-1.0315	10	0.59425	D	0.04	.	7.0264	0.24942	0.3547:0.0:0.6453:0.0	.	78	Q9NQW8	CNGB3_HUMAN	F	78	ENSP00000316605:S78F	ENSP00000316605:S78F	S	-	2	0	CNGB3	87807980	0.001000	0.12720	0.001000	0.08648	0.038000	0.13279	0.715000	0.25822	0.673000	0.31224	0.655000	0.94253	TCC		PASS	0.428	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		193	458	193	458	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92352656	92352656	+	Silent	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:92352656G>C	ENST00000276609.3	+	8	1142	c.903G>C	c.(901-903)ccG>ccC	p.P301P	SLC26A7_ENST00000523719.1_Silent_p.P301P|SLC26A7_ENST00000309536.2_Silent_p.P301P	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.P301P(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GAGCTCCCCCGATGAACATCC	0.443																																						uc003yex.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(901-903)CCG>CCC		solute carrier family 26, member 7 isoform a							116.0	104.0	108.0					8																	92352656		2203	4300	6503	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92352656G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.903G>C	8.37:g.92352656G>C						SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.P301P|SLC26A7_uc003yfa.2_Silent_p.P301P	p.P301P	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		9	1181	+			301			Cytoplasmic (Potential).			Silent	SNP	ENST00000276609.3	37	c.903G>C	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	1.366	-0.587510	0.03799	.	.	ENSG00000147606	ENST00000520818	.	.	.	6.02	-12.0	0.00017	.	.	.	.	.	T	0.33614	0.0869	.	.	.	0.50313	D	0.999869	.	.	.	.	.	.	T	0.43442	-0.9391	4	.	.	.	.	3.729	0.08485	0.2006:0.4192:0.2418:0.1384	.	.	.	.	P	169	.	.	R	+	2	0	SLC26A7	92421832	0.000000	0.05858	0.250000	0.24296	0.183000	0.23260	-2.000000	0.01466	-2.645000	0.00427	-0.181000	0.13052	CGA		PASS	0.443	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			26	190	26	190	---	---	---	---
RRM2B	50484	broad.mit.edu	37	8	103231116	103231116	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:103231116C>A	ENST00000251810.3	-	6	853	c.610G>T	c.(610-612)Gct>Tct	p.A204S	RRM2B_ENST00000395912.2_Missense_Mutation_p.A152S|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	204					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.A204S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	CAGAATATAGCAGCAAAAGAT	0.398								Modulation of nucleotide pools																														uc003ykn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(610-612)GCT>TCT	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	ribonucleotide reductase M2 B (TP53 inducible)							119.0	125.0	123.0					8																	103231116		2203	4300	6503	SO:0001583	missense	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103231116C>A	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.610G>T	8.37:g.103231116C>A	ENSP00000251810:p.Ala204Ser					RRM2B_uc003yko.2_RNA|RRM2B_uc010mbv.1_Missense_Mutation_p.A152S|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	p.A204S	NM_015713	NP_056528	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		6	854	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		204					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	c.610G>T	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.498|6.498	0.460036|0.460036	0.12342|0.12342	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000395912|ENST00000522368	D;D|.	0.96856|.	-4.15;-4.15|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);|.	0.101382|.	0.64402|.	D|.	0.000002|.	T|T	0.46678|0.46678	0.1405|0.1405	N|N	0.05330|0.05330	-0.07|-0.07	0.80722|0.80722	D|D	1|1	B;B|.	0.23128|.	0.013;0.08|.	B;B|.	0.34385|.	0.08;0.181|.	T|T	0.42531|0.42531	-0.9446|-0.9446	10|5	0.02654|.	T|.	1|.	.|.	19.1474|19.1474	0.93473|0.93473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	152;204|.	Q7LG56-2;Q7LG56|.	.;RIR2B_HUMAN|.	S|F	204;150;152|260	ENSP00000251810:A204S;ENSP00000379248:A152S|.	ENSP00000251810:A204S|.	A|C	-|-	1|2	0|0	RRM2B|RRM2B	103300292|103300292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.827000|1.827000	0.39102|0.39102	2.511000|2.511000	0.84671|0.84671	0.650000|0.650000	0.86243|0.86243	GCT|TGC		PASS	0.398	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3			41	268	41	268	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120569785	120569785	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:120569785C>T	ENST00000075322.6	-	25	2626	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L	ENPP2_ENST00000427067.2_Silent_p.L877L|ENPP2_ENST00000522167.1_Silent_p.L491L|ENPP2_ENST00000522826.1_Silent_p.L881L|ENPP2_ENST00000259486.6_Silent_p.L908L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	856					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L908L(1)|p.L881L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATATGTATGCAGGTATGTCT	0.403																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(2566-2568)CTG>CTA		autotaxin isoform 2 preproprotein							187.0	179.0	182.0					8																	120569785		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569785C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2568G>A	8.37:g.120569785C>T						ENPP2_uc011lic.1_Silent_p.L394L|ENPP2_uc003yor.1_Silent_p.L491L|ENPP2_uc003yos.1_Silent_p.L908L|ENPP2_uc010mdd.1_Silent_p.L881L	p.L856L	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2654	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		856					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2568G>A	CCDS34936.1																																																																																				PASS	0.403	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			39	201	39	201	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125035683	125035683	+	Splice_Site	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:125035683G>C	ENST00000522917.1	+	18	2339		c.e18-1		FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)		p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TATTCCCACAGCCCCAGCACA	0.498																																						uc003yqw.2																			1	Unknown(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.e18-1		fer-1-like 6							114.0	116.0	115.0					8																	125035683		1957	4160	6117	SO:0001630	splice_region_variant	654463					integral to membrane		g.chr8:125035683G>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2134-1G>C	8.37:g.125035683G>C						uc003yqx.1_Intron	p.P712_splice	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2340	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)								Splice_Site	SNP	ENST00000522917.1	37	c.2134_splice	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591390	0.66219	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3874	0.90471	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125104864	1.000000	0.71417	0.999000	0.59377	0.588000	0.36517	9.315000	0.96313	2.642000	0.89623	0.555000	0.69702	.		PASS	0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	Intron	59	272	59	272	---	---	---	---
ZNF572	137209	broad.mit.edu	37	8	125989627	125989627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:125989627G>T	ENST00000319286.5	+	3	1271	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E373*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAATGTGATAGAAGAATGCAG	0.393										HNSCC(60;0.17)																												uc003yrr.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1117-1119)GAA>TAA		zinc finger protein 572							92.0	88.0	89.0					8																	125989627		2203	4300	6503	SO:0001587	stop_gained	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989627G>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1117G>T	8.37:g.125989627G>T	ENSP00000319305:p.Glu373*	HNSCC(60;0.17)					p.E373*	NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	1272	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		373					A1L4F1|Q8N1Q0	Nonsense_Mutation	SNP	ENST00000319286.5	37	c.1117G>T	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842118	0.51057	.	.	ENSG00000180938	ENST00000319286	.	.	.	5.0	4.12	0.48240	.	0.126644	0.35805	N	0.002966	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.093	9.0389	0.36305	0.0998:0.0:0.9002:0.0	.	.	.	.	X	373	.	ENSP00000319305:E373X	E	+	1	0	ZNF572	126058808	0.000000	0.05858	0.044000	0.18714	0.122000	0.20287	-0.185000	0.09684	1.336000	0.45506	0.655000	0.94253	GAA		PASS	0.393	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		12	167	12	167	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133051285	133051285	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:133051285G>T	ENST00000443356.2	-	7	629	c.543C>A	c.(541-543)tcC>tcA	p.S181S	OC90_ENST00000254627.3_Silent_p.S181S|OC90_ENST00000262283.5_Silent_p.S377S|OC90_ENST00000603859.1_Silent_p.S181S			Q02509	OC90_HUMAN	otoconin 90	181	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.S377S(1)|p.S187S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGGTTCAGGGAAGAGTTGA	0.562																																						uc003ytg.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(493-495)TCC>TCA		otoconin 90							105.0	109.0	107.0					8																	133051285		2031	4200	6231	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133051285G>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.543C>A	8.37:g.133051285G>T						OC90_uc011lix.1_Silent_p.S181S	p.S165S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		5	495	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		181			Phospholipase A2-like 1.		B4DNG8	Silent	SNP	ENST00000443356.2	37	c.495C>A																																																																																					PASS	0.562	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		17	70	17	70	---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144877216	144877216	+	Missense_Mutation	SNP	C	C	T	rs144293240		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:144877216C>T	ENST00000320476.3	-	27	3844	c.3838G>A	c.(3838-3840)Gtg>Atg	p.V1280M	SCRIB_ENST00000377533.3_Missense_Mutation_p.V1199M|SCRIB_ENST00000356994.2_Missense_Mutation_p.V1280M|SCRIB_ENST00000546337.1_5'Flank	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1280					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)		p.V1280M(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACCCTCTGCACGCTGCCAGCG	0.687																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1																			2	Substitution - Missense(2)		lung(2)	urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(3838-3840)GTG>ATG		scribble isoform b		C	MET/VAL,MET/VAL	1,4385		0,1,2192	22.0	26.0	24.0		3838,3838	-5.3	0.0	8	dbSNP_134	24	0,8570		0,0,4285	no	missense,missense	SCRIB	NM_015356.3,NM_182706.3	21,21	0,1,6477	TT,TC,CC		0.0,0.0228,0.0077	benign,benign	1280/1631,1280/1656	144877216	1,12955	2193	4285	6478	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144877216C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3838G>A	8.37:g.144877216C>T	ENSP00000322938:p.Val1280Met					SCRIB_uc003yzn.1_Translation_Start_Site|SCRIB_uc003yzo.1_Missense_Mutation_p.V1280M	p.V1280M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		27	3845	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1280					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.3838G>A	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.374|2.374	-0.343700|-0.343700	0.05243|0.05243	2.28E-4|2.28E-4	0.0|0.0	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	.|T;T;T	.|0.36699	.|1.46;1.43;1.24	3.97|3.97	-5.32|-5.32	0.02722|0.02722	.|.	.|.	.|.	.|.	.|.	T|T	0.24851|0.24851	0.0603|0.0603	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19935	.|0.024;0.04	.|B;B	.|0.13407	.|0.004;0.009	T|T	0.24261|0.24261	-1.0165|-1.0165	5|9	.|0.36615	.|T	.|0.2	.|.	6.3505|6.3505	0.21373|0.21373	0.2101:0.2089:0.0:0.581|0.2101:0.2089:0.0:0.581	.|.	.|1280;1280	.|Q14160;Q14160-3	.|SCRIB_HUMAN;.	H|M	275|1280;1280;1199;649	.|ENSP00000349486:V1280M;ENSP00000322938:V1280M;ENSP00000366756:V1199M	.|ENSP00000322938:V1280M	R|V	-|-	2|1	0|0	SCRIB|SCRIB	144949204|144949204	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.032000|0.032000	0.12392|0.12392	-1.460000|-1.460000	0.02368|0.02368	-1.050000|-1.050000	0.03230|0.03230	-0.378000|-0.378000	0.06908|0.06908	CGT|GTG		PASS	0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		11	35	11	35	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993255	144993255	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:144993255G>T	ENST00000322810.4	-	32	11314	c.11145C>A	c.(11143-11145)ggC>ggA	p.G3715G	PLEC_ENST00000436759.2_Silent_p.G3605G|PLEC_ENST00000527096.1_Silent_p.G3601G|PLEC_ENST00000398774.2_Silent_p.G3546G|PLEC_ENST00000356346.3_Silent_p.G3564G|PLEC_ENST00000354589.3_Silent_p.G3578G|PLEC_ENST00000354958.2_Silent_p.G3556G|PLEC_ENST00000345136.3_Silent_p.G3578G|PLEC_ENST00000357649.2_Silent_p.G3582G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3715	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.G3715G(1)|p.G3605G(1)|p.G3578G(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGTGGCTGCCGCCGCCGG	0.647																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11143-11145)GGC>GGA		plectin isoform 1							46.0	61.0	56.0					8																	144993255		2073	4160	6233	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993255G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11145C>A	8.37:g.144993255G>T						PLEC_uc003zab.1_Silent_p.G3578G|PLEC_uc003zac.1_Silent_p.G3582G|PLEC_uc003zad.2_Silent_p.G3578G|PLEC_uc003zae.1_Silent_p.G3546G|PLEC_uc003zag.1_Silent_p.G3556G|PLEC_uc003zah.2_Silent_p.G3564G|PLEC_uc003zaj.2_Silent_p.G3605G	p.G3715G	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11315	-			3715			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.11145C>A	CCDS43772.1																																																																																				PASS	0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		58	81	58	81	---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146015194	146015194	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr8:146015194T>C	ENST00000262584.3	-	6	1001	c.769A>G	c.(769-771)Aac>Gac	p.N257D	ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Missense_Mutation_p.N257D|RPL8_ENST00000394920.2_Missense_Mutation_p.N257D|RPL8_ENST00000527914.1_Missense_Mutation_p.N148D|ZNF34_ENST00000343459.4_5'Flank	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	257					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.N257D(1)		kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CAGCACTAGTTCTCTTTCTCC	0.582																																						uc003zeb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)AAC>GAC		ribosomal protein L8							149.0	152.0	151.0					8																	146015194		2203	4300	6503	SO:0001583	missense	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146015194T>C	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.769A>G	8.37:g.146015194T>C	ENSP00000262584:p.Asn257Asp					RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Missense_Mutation_p.N221D|RPL8_uc003zec.2_Missense_Mutation_p.N257D	p.N257D	NM_033301	NP_150644	P62917	RL8_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)	6	880	-	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		257					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	ENST00000262584.3	37	c.769A>G	CCDS6433.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283353	0.59867	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000534813	T;T	0.42513	0.97;0.97	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.29908	0.895	0.58432	D	0.999996	B;B	0.18310	0.001;0.027	B;B	0.17433	0.001;0.018	T	0.07927	-1.0747	10	0.12103	T	0.63	-15.6222	12.5444	0.56190	0.0:0.0:0.0:1.0	.	257;221	P62917;E9PIZ3	RL8_HUMAN;.	D	257;148;257;221	ENSP00000378378:N257D;ENSP00000262584:N257D	ENSP00000262584:N257D	N	-	1	0	RPL8	145985998	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.865000	0.75500	1.915000	0.55452	0.454000	0.30748	AAC		PASS	0.582	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		69	431	69	431	---	---	---	---
SYK	6850	broad.mit.edu	37	9	93650155	93650155	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr9:93650155G>T	ENST00000375754.4	+	12	1854	c.1706G>T	c.(1705-1707)gGg>gTg	p.G569V	SYK_ENST00000375746.1_Missense_Mutation_p.G569V|SYK_ENST00000375747.1_Missense_Mutation_p.G546V|SYK_ENST00000375751.4_Missense_Mutation_p.G546V	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|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)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G546V(1)|p.G569V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTCTCCTATGGGCAGAAGCCA	0.468			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.2				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		2	Substitution - Missense(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1705-1707)GGG>GTG		spleen tyrosine kinase isoform 1							119.0	115.0	117.0					9																	93650155		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650155G>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1706G>T	9.37:g.93650155G>T	ENSP00000364907:p.Gly569Val					SYK_uc004ara.2_Missense_Mutation_p.G546V|SYK_uc004arb.2_Missense_Mutation_p.G546V|SYK_uc004arc.2_Missense_Mutation_p.G569V|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.G569V	NM_003177	NP_003168	P43405	KSYK_HUMAN			12	1911	+			569			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1706G>T	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231238	0.58777	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	4.77	4.77	0.60923	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90937	0.7151	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94746	0.7923	10	0.87932	D	0	.	17.9801	0.89138	0.0:0.0:1.0:0.0	.	546;569	P43405-2;P43405	.;KSYK_HUMAN	V	569;546;546;569	ENSP00000364907:G569V;ENSP00000364904:G546V;ENSP00000364899:G546V;ENSP00000364898:G569V	ENSP00000364898:G569V	G	+	2	0	SYK	92689976	1.000000	0.71417	0.981000	0.43875	0.182000	0.23217	9.037000	0.93765	2.459000	0.83118	0.455000	0.32223	GGG		PASS	0.468	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			22	53	22	53	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112900186	112900186	+	Missense_Mutation	SNP	G	G	T	rs201192229		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr9:112900186G>T	ENST00000259318.7	+	2	1876	c.1669G>T	c.(1669-1671)Ggg>Tgg	p.G557W	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.G788W|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G788W|AKAP2_ENST00000510514.5_Missense_Mutation_p.G788W|AKAP2_ENST00000555236.1_Missense_Mutation_p.G788W|AKAP2_ENST00000374525.1_Missense_Mutation_p.G646W|AKAP2_ENST00000434623.2_Missense_Mutation_p.G646W	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	557								p.G788W(1)|p.G646W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTCCACGCTGGGGGACTCTCC	0.552																																						uc004bei.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3058-3060)GGG>TGG		A kinase (PRKA) anchor protein 2 isoform 2							49.0	48.0	48.0					9																	112900186		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900186G>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1669G>T	9.37:g.112900186G>T	ENSP00000259318:p.Gly557Trp					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.G788W|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.G788W|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.G598W|AKAP2_uc011lwi.1_Missense_Mutation_p.G646W|AKAP2_uc004bem.2_Missense_Mutation_p.G646W|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.G606W|AKAP2_uc011lwj.1_Missense_Mutation_p.G557W|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.G557W	p.G1020W	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	3250	+			557					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3058G>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584053	0.46110	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.49432	2.11;2.11;2.11;2.11;1.36;0.78;0.78;1.38	5.95	5.95	0.96441	.	0.491635	0.22606	N	0.057893	T	0.55049	0.1896	N	0.19112	0.55	0.37896	D	0.930879	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;0.999;0.994	D;D;D;D;D;D;D;D	0.87578	0.945;0.998;0.976;0.997;0.993;0.988;0.988;0.92	T	0.61456	-0.7059	10	0.72032	D	0.01	-20.6137	14.9232	0.70856	0.0:0.1425:0.8575:0.0	.	557;646;640;646;647;788;788;606	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	W	788;788;788;788;646;646;606;557	ENSP00000363654:G788W;ENSP00000305861:G788W;ENSP00000451476:G788W;ENSP00000421522:G788W;ENSP00000404782:G646W;ENSP00000363649:G646W;ENSP00000419268:G606W;ENSP00000259318:G557W	ENSP00000259318:G557W	G	+	1	0	PALM2-AKAP2;AKAP2	111940007	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	4.311000	0.59147	2.810000	0.96702	0.650000	0.86243	GGG		PASS	0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		24	72	24	72	---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126128327	126128327	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr9:126128327G>T	ENST00000373631.3	+	3	551	c.550G>T	c.(550-552)Gac>Tac	p.D184Y	CRB2_ENST00000373629.2_5'Flank|CRB2_ENST00000359999.3_Missense_Mutation_p.D184Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	184	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.D184Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTGCCAGCTGGACCTCGACGA	0.751																																						uc004bnx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)GAC>TAC		crumbs homolog 2 precursor							14.0	13.0	13.0					9																	126128327		2176	4269	6445	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126128327G>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.550G>T	9.37:g.126128327G>T	ENSP00000362734:p.Asp184Tyr					CRB2_uc004bnw.1_Missense_Mutation_p.D184Y	p.D184Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			3	642	+			184			Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.550G>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996004	0.74703	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.94417	-3.42;-3.42	4.79	4.79	0.61399	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.48767	D	0.000170	D	0.97133	0.9063	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.96;0.982	D	0.97237	0.9888	10	0.72032	D	0.01	.	9.0534	0.36389	0.1015:0.0:0.8985:0.0	.	184;184	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Y	184	ENSP00000353092:D184Y;ENSP00000362734:D184Y	ENSP00000353092:D184Y	D	+	1	0	CRB2	125168148	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.233000	0.51311	2.186000	0.69663	0.448000	0.29417	GAC		PASS	0.751	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		5	9	5	9	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15655666	15655666	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:15655666C>A	ENST00000378076.3	-	15	1899	c.1546G>T	c.(1546-1548)Gct>Tct	p.A516S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	516					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)	p.A516S(1)		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						CACCAGGCAGCAGATGTCATA	0.443																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(1546-1548)GCT>TCT		integrin, alpha 8 precursor							141.0	147.0	145.0					10																	15655666		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.chr10:15655666C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1546G>T	10.37:g.15655666C>A	ENSP00000367316:p.Ala516Ser					ITGA8_uc010qcb.1_Missense_Mutation_p.A501S	p.A516S	NM_003638	NP_003629	P53708	ITA8_HUMAN			15	1546	-			516			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1546G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282669	0.40394	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.43688	0.94	5.38	5.38	0.77491	Integrin alpha-2 (1);	0.171732	0.50627	D	0.000116	T	0.39118	0.1066	L	0.29908	0.895	0.29109	N	0.880988	P;P	0.36837	0.515;0.571	B;B	0.41571	0.246;0.36	T	0.35549	-0.9784	10	0.40728	T	0.16	.	17.3176	0.87228	0.0:1.0:0.0:0.0	.	501;516	F5H818;P53708	.;ITA8_HUMAN	S	516;501	ENSP00000367316:A516S	ENSP00000367316:A516S	A	-	1	0	ITGA8	15695672	0.980000	0.34600	0.530000	0.27963	0.049000	0.14656	4.041000	0.57339	2.524000	0.85096	0.467000	0.42956	GCT		PASS	0.443	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		49	223	49	223	---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139991	44139991	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:44139991C>A	ENST00000395797.1	-	3	517	c.329G>T	c.(328-330)tGt>tTt	p.C110F	ZNF32_ENST00000374433.2_Missense_Mutation_p.C110F|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C110F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GCTTTTTCCACAGTGGGTGCA	0.468																																						uc001jbb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(328-330)TGT>TTT		zinc finger protein 32							148.0	134.0	138.0					10																	44139991		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139991C>A	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.329G>T	10.37:g.44139991C>A	ENSP00000379143:p.Cys110Phe					uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.C110F	p.C110F	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	518	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	110			C2H2-type 2.		Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.329G>T	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343953	0.61073	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	D;D	0.85861	-2.04;-2.04	4.52	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000060	D	0.89553	0.6748	H	0.95850	3.73	0.58432	D	0.999996	B	0.21071	0.051	B	0.25291	0.059	D	0.89478	0.3748	10	0.87932	D	0	-10.1634	11.9499	0.52948	0.175:0.825:0.0:0.0	.	110	P17041	ZNF32_HUMAN	F	110	ENSP00000363556:C110F;ENSP00000379143:C110F	ENSP00000363556:C110F	C	-	2	0	ZNF32	43459997	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.370000	0.79589	1.440000	0.47531	0.655000	0.94253	TGT		PASS	0.468	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		30	112	30	112	---	---	---	---
LIPK	643414	broad.mit.edu	37	10	90486621	90486621	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:90486621C>A	ENST00000404190.1	+	2	175	c.175C>A	c.(175-177)Ctt>Att	p.L59I		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	59					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.L59I(2)|p.L59F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TGGTTATATCCTTGGAATTTA	0.343																																						uc010qmv.1																			3	Substitution - Missense(3)		lung(2)|skin(1)	ovary(2)	2						c.(175-177)CTT>ATT		lipase, family member K precursor							74.0	70.0	71.0					10																	90486621		1827	4096	5923	SO:0001583	missense	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90486621C>A		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.175C>A	10.37:g.90486621C>A	ENSP00000383900:p.Leu59Ile						p.L59I	NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	2	175	+		Colorectal(252;0.0381)	59					A7KIH8	Missense_Mutation	SNP	ENST00000404190.1	37	c.175C>A	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454135	0.84209	.	.	ENSG00000204021	ENST00000404190	D	0.94330	-3.4	5.2	5.2	0.72013	Partial AB-hydrolase lipase domain (1);	0.000000	0.47455	D	0.000228	D	0.97034	0.9031	M	0.90309	3.105	0.52501	D	0.999952	D	0.56287	0.975	D	0.65443	0.935	D	0.97312	0.9938	10	0.72032	D	0.01	-23.0687	16.1163	0.81306	0.0:1.0:0.0:0.0	.	59	Q5VXJ0	LIPK_HUMAN	I	59	ENSP00000383900:L59I	ENSP00000383900:L59I	L	+	1	0	LIPK	90476601	0.899000	0.30636	1.000000	0.80357	0.978000	0.69477	1.636000	0.37144	2.861000	0.98227	0.655000	0.94253	CTT		PASS	0.343	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		10	19	10	19	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92509212	92509212	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:92509212C>T	ENST00000336152.3	-	2	705	c.679G>A	c.(679-681)Gat>Aat	p.D227N	HTR7_ENST00000371721.3_Missense_Mutation_p.D227N|HTR7_ENST00000371719.2_Missense_Mutation_p.D227N|HTR7_ENST00000277874.6_Missense_Mutation_p.D227N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	227					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.D227N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACCTTATCATCATTTACATTC	0.468																																						uc001kha.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(679-681)GAT>AAT		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						97.0	102.0	100.0					10																	92509212		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92509212C>T	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.679G>A	10.37:g.92509212C>T	ENSP00000337949:p.Asp227Asn					HTR7_uc001kgz.2_Missense_Mutation_p.D227N|HTR7_uc001khb.2_Missense_Mutation_p.D227N	p.D227N	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	922	-			227			Extracellular (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.679G>A	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200868	0.79015	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	L	0.28649	0.875	0.80722	D	1	D;B	0.54601	0.967;0.2	P;B	0.53313	0.723;0.077	T	0.66575	-0.5889	10	0.26408	T	0.33	.	19.1045	0.93287	0.0:1.0:0.0:0.0	.	227;227	P34969;P34969-2	5HT7R_HUMAN;.	N	227	ENSP00000337949:D227N;ENSP00000277874:D227N;ENSP00000360784:D227N;ENSP00000360786:D227N	ENSP00000277874:D227N	D	-	1	0	HTR7	92499192	1.000000	0.71417	0.564000	0.28396	0.579000	0.36224	5.750000	0.68712	2.756000	0.94617	0.650000	0.86243	GAT		PASS	0.468	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		27	98	27	98	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96522558	96522558	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:96522558C>A	ENST00000371321.3	+	1	178	c.96C>A	c.(94-96)ggC>ggA	p.G32G	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	32					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.G32G(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCCCTCCTGGCCCTACTCCTC	0.453																																						uc010qnz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(94-96)GGC>GGA		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						139.0	138.0	138.0					10																	96522558		2203	4300	6503	SO:0001819	synonymous_variant	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96522558C>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.96C>A	10.37:g.96522558C>A						CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron	p.G32G	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	1	96	+		Colorectal(252;0.09)	32					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	ENST00000371321.3	37	c.96C>A	CCDS7436.1																																																																																				PASS	0.453	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		64	178	64	178	---	---	---	---
DNTT	1791	broad.mit.edu	37	10	98092315	98092315	+	Missense_Mutation	SNP	C	C	A	rs200664457		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:98092315C>A	ENST00000371174.2	+	9	1423	c.1321C>A	c.(1321-1323)Cgt>Agt	p.R441S	DNTT_ENST00000419175.1_Missense_Mutation_p.R441S			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	441	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R441S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCCCTACGAGCGTCGTGCCTT	0.547																																						uc001kmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1321-1323)CGT>AGT		terminal deoxynucleotidyltransferase isoform 1							212.0	179.0	190.0					10																	98092315		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98092315C>A	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1321C>A	10.37:g.98092315C>A	ENSP00000360216:p.Arg441Ser					DNTT_uc001kmg.2_Missense_Mutation_p.R441S	p.R441S	NM_004088	NP_004079	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	9	1491	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	441			Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.1321C>A	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834434	0.32421	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.39997	1.05;1.05	5.81	-7.55	0.01327	DNA-directed DNA polymerase X (1);	0.885835	0.10257	N	0.696405	T	0.21881	0.0527	L	0.27053	0.805	0.09310	N	0.999992	P;P	0.44877	0.845;0.76	B;B	0.39562	0.303;0.159	T	0.17349	-1.0372	10	0.62326	D	0.03	-1.5685	5.3943	0.16261	0.2864:0.2714:0.0:0.4423	.	441;441	P04053-2;P04053	.;TDT_HUMAN	S	441	ENSP00000401169:R441S;ENSP00000360216:R441S	ENSP00000360216:R441S	R	+	1	0	DNTT	98082305	0.051000	0.20477	0.000000	0.03702	0.270000	0.26580	0.397000	0.20883	-2.153000	0.00793	-0.783000	0.03347	CGT		PASS	0.547	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		86	303	86	303	---	---	---	---
CRTAC1	55118	broad.mit.edu	37	10	99683113	99683113	+	Silent	SNP	G	G	T	rs147289538	byFrequency	TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:99683113G>T	ENST00000370597.3	-	4	821	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	CRTAC1_ENST00000370591.2_Silent_p.R156R|CRTAC1_ENST00000298819.4_Silent_p.R156R	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	156						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R156R(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TCTTCCCACCGGTTATTGCGG	0.592																																						uc001kou.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(466-468)CGG>AGG		cartilage acidic protein 1 precursor							115.0	87.0	96.0					10																	99683113		2203	4300	6503	SO:0001819	synonymous_variant	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99683113G>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.466C>A	10.37:g.99683113G>T						CRTAC1_uc001kov.2_Silent_p.R145R|CRTAC1_uc001kot.1_5'UTR	p.R156R	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	4	822	-		Colorectal(252;0.24)	156					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	c.466C>A	CCDS31266.1																																																																																				PASS	0.592	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		36	99	36	99	---	---	---	---
LBX1	10660	broad.mit.edu	37	10	102987419	102987419	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:102987419G>A	ENST00000370193.2	-	2	1432	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	LBX1-AS1_ENST00000547077.1_RNA|LBX1-AS1_ENST00000546988.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	152					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P152S(1)		large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CGATCGGCGGGGGACAGGTAC	0.592																																						uc001ksx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)CCC>TCC		ladybird homeobox 1							89.0	94.0	92.0					10																	102987419		2203	4300	6503	SO:0001583	missense	10660				muscle organ development		sequence-specific DNA binding	g.chr10:102987419G>A	X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.454C>T	10.37:g.102987419G>A	ENSP00000359212:p.Pro152Ser					uc010qpy.1_5'Flank	p.P152S	NM_006562	NP_006553	P52954	LBX1_HUMAN		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)	2	599	-		Colorectal(252;0.234)	152			Homeobox.		B9EGA2|Q05BB2	Missense_Mutation	SNP	ENST00000370193.2	37	c.454C>T	CCDS31270.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829833	0.91036	.	.	ENSG00000138136	ENST00000370193	D	0.95918	-3.85	5.61	5.61	0.85477	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	N	0.10664	0.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93979	0.7256	10	0.26408	T	0.33	.	19.2382	0.93871	0.0:0.0:1.0:0.0	.	152	P52954	LBX1_HUMAN	S	152	ENSP00000359212:P152S	ENSP00000359212:P152S	P	-	1	0	LBX1	102977409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.580000	0.67464	2.646000	0.89796	0.561000	0.74099	CCC		PASS	0.592	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562		31	176	31	176	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128147646	128147646	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:128147646G>T	ENST00000284694.7	-	6	1980	c.1860C>A	c.(1858-1860)acC>acA	p.T620T	C10orf90_ENST00000544758.1_Silent_p.T717T|C10orf90_ENST00000480379.1_Silent_p.T24T|C10orf90_ENST00000454341.1_Silent_p.T523T|C10orf90_ENST00000356858.3_Silent_p.T573T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	620	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T620T(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCTTCTTGCTGGTGCGGATGG	0.572																																						uc001ljq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1858-1860)ACC>ACA		hypothetical protein LOC118611							158.0	120.0	133.0					10																	128147646		2203	4300	6503	SO:0001819	synonymous_variant	118611							g.chr10:128147646G>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1860C>A	10.37:g.128147646G>T						C10orf90_uc001ljp.2_Silent_p.T476T|C10orf90_uc010qum.1_Silent_p.T717T|C10orf90_uc001ljo.2_RNA	p.T620T	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	6	1981	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	620					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	c.1860C>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	6.706	0.498898	0.12762	.	.	ENSG00000154493	ENST00000424927	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	T	0.71013	0.3290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69514	-0.5125	4	.	.	.	-10.5805	15.1753	0.72907	0.0:0.0:1.0:0.0	.	.	.	.	Q	163	.	.	P	-	2	0	C10orf90	128137636	0.585000	0.26774	0.696000	0.30242	0.768000	0.43524	0.999000	0.29757	2.595000	0.87683	0.655000	0.94253	CCA		PASS	0.572	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		33	52	33	52	---	---	---	---
VENTX	27287	broad.mit.edu	37	10	135053756	135053756	+	Silent	SNP	G	G	T	rs56130458		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr10:135053756G>T	ENST00000325980.9	+	3	1234	c.723G>T	c.(721-723)ctG>ctT	p.L241L		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	241					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L241L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GACCAGCCCTGTCCACGGGGC	0.682																																						uc010quy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(721-723)CTG>CTT		VENT homeobox							12.0	15.0	14.0					10																	135053756		2102	4145	6247	SO:0001819	synonymous_variant	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053756G>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.723G>T	10.37:g.135053756G>T							p.L241L	NM_014468	NP_055283	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	3	734	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	241					Q32MZ3	Silent	SNP	ENST00000325980.9	37	c.723G>T	CCDS7675.1																																																																																				PASS	0.682	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		13	33	13	33	---	---	---	---
PDDC1	347862	broad.mit.edu	37	11	771358	771358	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:771358C>T	ENST00000319863.8	-	6	540	c.519G>A	c.(517-519)gtG>gtA	p.V173V	PDDC1_ENST00000442059.2_Silent_p.V123V|PDDC1_ENST00000524550.1_Silent_p.V137V|PDDC1_ENST00000526325.1_Silent_p.*187*|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000397472.2_Silent_p.V173V	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	173						extracellular vesicular exosome (GO:0070062)		p.V173V(1)		kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGAATCCTTCACGAAGTCCT	0.687																																						uc001lrc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)GTG>GTA		Parkinson disease 7 domain containing 1							19.0	22.0	21.0					11																	771358		2195	4297	6492	SO:0001819	synonymous_variant	347862					extracellular region		g.chr11:771358C>T	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.519G>A	11.37:g.771358C>T						PDDC1_uc010qwm.1_Silent_p.V123V|PDDC1_uc001lrd.2_Silent_p.V173V|PDDC1_uc001lrf.1_Silent_p.*151*|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Silent_p.V123V|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Silent_p.V137V|PDDC1_uc010qwq.1_Silent_p.V87V|PDDC1_uc010qwr.1_Silent_p.V173V|PDDC1_uc010qws.1_Silent_p.V123V	p.V173V	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	544	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	173					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	c.519G>A	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129298	0.08981	.	.	ENSG00000177225	ENST00000465313	.	.	.	4.44	2.37	0.29283	.	.	.	.	.	T	0.52224	0.1721	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44802	-0.9304	4	.	.	.	-21.0217	5.2027	0.15273	0.0:0.4023:0.4122:0.1855	.	.	.	.	K	24	.	.	E	-	1	0	PDDC1	761358	0.991000	0.36638	0.998000	0.56505	0.301000	0.27625	1.139000	0.31504	0.985000	0.38656	0.462000	0.41574	GAA		PASS	0.687	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		5	13	5	13	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406221	55406221	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:55406221T>C	ENST00000314612.2	+	1	388	c.388T>C	c.(388-390)Tac>Cac	p.Y130H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y130H(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCCCTGCACTACACCATTAT	0.428																																						uc010rij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(388-390)TAC>CAC		olfactory receptor, family 4, subfamily P,							83.0	73.0	77.0					11																	55406221		2179	4013	6192	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406221T>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.388T>C	11.37:g.55406221T>C	ENSP00000324831:p.Tyr130His						p.Y130H	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	388	+			130			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.388T>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.897853	0.52227	.	.	ENSG00000181927	ENST00000314612	T	0.33438	1.41	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	N	0.002206	T	0.63450	0.2512	M	0.91038	3.17	0.46222	D	0.998935	D	0.76494	0.999	D	0.76071	0.987	T	0.72880	-0.4158	10	0.87932	D	0	-13.4021	14.2088	0.65750	0.0:0.0:0.0:1.0	.	130	Q8NGL7	OR4P4_HUMAN	H	130	ENSP00000324831:Y130H	ENSP00000324831:Y130H	Y	+	1	0	OR4P4	55162797	1.000000	0.71417	0.944000	0.38274	0.008000	0.06430	5.420000	0.66441	2.018000	0.59344	0.519000	0.50382	TAC		PASS	0.428	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		53	164	53	164	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406499	55406499	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:55406499C>A	ENST00000314612.2	+	1	666	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T222T(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TATTGTATACCATCAGAGCAT	0.373																																						uc010rij.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(664-666)ACC>ACA		olfactory receptor, family 4, subfamily P,							157.0	113.0	129.0					11																	55406499		2181	4021	6202	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406499C>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.666C>A	11.37:g.55406499C>A							p.T222T	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	666	+			222			Cytoplasmic (Potential).			Silent	SNP	ENST00000314612.2	37	c.666C>A	CCDS31504.1																																																																																				PASS	0.373	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		69	142	69	142	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563225	55563225	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:55563225T>A	ENST00000335605.1	+	1	194	c.194T>A	c.(193-195)cTt>cAt	p.L65H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L65H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TACTTTTTCCTTAGTCACCTC	0.378																																						uc010rim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(193-195)CTT>CAT		olfactory receptor, family 5, subfamily D,							223.0	203.0	210.0					11																	55563225		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563225T>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.194T>A	11.37:g.55563225T>A	ENSP00000334456:p.Leu65His						p.L65H	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	194	+		all_epithelial(135;0.196)	65			Helical; Name=2; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.194T>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	t	15.35	2.807495	0.50421	.	.	ENSG00000186113	ENST00000335605	T	0.02140	4.43	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40908	D	0.001000	T	0.26629	0.0651	H	0.99425	4.56	0.41878	D	0.990309	D	0.89917	1.0	D	0.91635	0.999	T	0.54695	-0.8255	10	0.87932	D	0	-22.7001	13.7086	0.62654	0.0:0.0:0.0:1.0	.	65	Q8NGL3	OR5DE_HUMAN	H	65	ENSP00000334456:L65H	ENSP00000334456:L65H	L	+	2	0	OR5D14	55319801	1.000000	0.71417	0.914000	0.36105	0.091000	0.18340	7.371000	0.79600	1.916000	0.55485	0.523000	0.50628	CTT		PASS	0.378	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		67	166	67	166	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761370	55761370	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:55761370G>T	ENST00000278409.1	-	1	731	c.732C>A	c.(730-732)caC>caA	p.H244Q		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	244					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H244Q(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGGCTGTCAGGTGAGAGGCAC	0.493																																						uc010riv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(730-732)CAC>CAA		olfactory receptor, family 5, subfamily F,							84.0	80.0	81.0					11																	55761370		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761370G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.732C>A	11.37:g.55761370G>T	ENSP00000278409:p.His244Gln						p.H244Q	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	732	-	Esophageal squamous(21;0.00448)		244			Helical; Name=6; (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.732C>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	8.491	0.862049	0.17178	.	.	ENSG00000149133	ENST00000278409	T	0.00307	8.17	2.99	0.951	0.19579	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00845	0.0028	H	0.95745	3.715	0.29653	N	0.843785	D	0.89917	1.0	D	0.91635	0.999	T	0.17930	-1.0353	9	0.87932	D	0	.	6.9722	0.24654	0.3526:0.0:0.6474:0.0	.	244	O95221	OR5F1_HUMAN	Q	244	ENSP00000278409:H244Q	ENSP00000278409:H244Q	H	-	3	2	OR5F1	55517946	0.012000	0.17670	0.173000	0.22940	0.097000	0.18754	-0.301000	0.08232	0.389000	0.25086	-0.738000	0.03535	CAC		PASS	0.493	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		17	86	17	86	---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56345080	56345080	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:56345080C>A	ENST00000526812.2	-	1	183	c.118G>T	c.(118-120)Gca>Tca	p.A40S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A40S(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGGTTGCCTGCCAGTGTGATT	0.478																																						uc001niz.1																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)		0						c.(118-120)GCA>TCA		olfactory receptor, family 5, subfamily M,							159.0	155.0	157.0					11																	56345080		1966	4151	6117	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345080C>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.118G>T	11.37:g.56345080C>A	ENSP00000436004:p.Ala40Ser						p.A40S	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	118	-			40			Helical; Name=1; (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.118G>T	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379730	0.24944	.	.	ENSG00000254834	ENST00000526812	T	0.02280	4.36	4.04	-3.11	0.05299	.	.	.	.	.	T	0.01489	0.0048	N	0.20574	0.59	0.09310	N	1	B	0.20550	0.046	B	0.23275	0.045	T	0.47484	-0.9114	9	0.52906	T	0.07	.	1.8671	0.03201	0.4604:0.1792:0.2324:0.128	.	40	Q6IEU7	OR5MA_HUMAN	S	40	ENSP00000436004:A40S	ENSP00000436004:A40S	A	-	1	0	OR5M10	56101656	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-3.190000	0.00565	-0.333000	0.08476	-0.196000	0.12772	GCA		PASS	0.478	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		45	174	45	174	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57886859	57886859	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:57886859G>T	ENST00000302610.1	-	1	57	c.58C>A	c.(58-60)Cac>Aac	p.H20N	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H20N(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AATTTGGGGTGGTCCATAAAG	0.423																																						uc001nml.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(58-60)CAC>AAC		olfactory receptor, family 9, subfamily I,							89.0	82.0	84.0					11																	57886859		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886859G>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.58C>A	11.37:g.57886859G>T	ENSP00000302606:p.His20Asn					OR9Q1_uc001nmj.2_Intron	p.H20N	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	58	-		Breast(21;0.0589)	20			Extracellular (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.58C>A	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.621461	0.00820	.	.	ENSG00000172377	ENST00000302610	T	0.02606	4.23	5.23	2.11	0.27256	.	0.134922	0.33631	N	0.004709	T	0.01870	0.0059	N	0.20574	0.59	0.09310	N	1	P	0.37398	0.593	B	0.40444	0.329	T	0.41520	-0.9504	10	0.10902	T	0.67	-2.805	3.1482	0.06479	0.2531:0.0:0.2534:0.4935	.	20	Q8NGQ6	OR9I1_HUMAN	N	20	ENSP00000302606:H20N	ENSP00000302606:H20N	H	-	1	0	OR9I1	57643435	0.000000	0.05858	0.019000	0.16419	0.114000	0.19823	-1.463000	0.02361	0.338000	0.23692	0.591000	0.81541	CAC		PASS	0.423	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		6	83	6	83	---	---	---	---
OR9Q1	219956	broad.mit.edu	37	11	57947632	57947632	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:57947632C>A	ENST00000335397.3	+	3	1032	c.716C>A	c.(715-717)aCc>aAc	p.T239N		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T239N(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACCTTCTCCACCTGCACCTCC	0.522																																						uc001nmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(715-717)ACC>AAC		olfactory receptor, family 9, subfamily Q,							246.0	186.0	207.0					11																	57947632		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947632C>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.716C>A	11.37:g.57947632C>A	ENSP00000334934:p.Thr239Asn						p.T239N	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	1032	+		Breast(21;0.222)	239			Helical; Name=6; (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.716C>A	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352513	0.82132	.	.	ENSG00000186509	ENST00000335397	T	0.40476	1.03	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000148	T	0.77363	0.4119	H	0.97758	4.07	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	D	0.85884	0.1424	10	0.87932	D	0	-26.8119	17.3173	0.87228	0.0:1.0:0.0:0.0	.	239	Q8NGQ5	OR9Q1_HUMAN	N	239	ENSP00000334934:T239N	ENSP00000334934:T239N	T	+	2	0	OR9Q1	57704208	1.000000	0.71417	0.118000	0.21660	0.985000	0.73830	5.799000	0.69101	2.645000	0.89757	0.484000	0.47621	ACC		PASS	0.522	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		36	271	36	271	---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60268610	60268610	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:60268610C>A	ENST00000016913.4	+	3	426	c.369C>A	c.(367-369)gcC>gcA	p.A123A	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	123						integral component of membrane (GO:0016021)		p.A123A(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TAGGTTTTGCCTCTACTGCTG	0.393																																						uc001npr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)GCC>GCA		membrane-spanning 4-domains, subfamily A, member							197.0	189.0	192.0					11																	60268610		2203	4300	6503	SO:0001819	synonymous_variant	54860					integral to membrane	receptor activity	g.chr11:60268610C>A	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.369C>A	11.37:g.60268610C>A							p.A123A	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			3	426	+			123			Helical; (Potential).		F5GX98|Q8N6L4	Silent	SNP	ENST00000016913.4	37	c.369C>A	CCDS7988.1																																																																																				PASS	0.393	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			73	233	73	233	---	---	---	---
TMEM216	51259	broad.mit.edu	37	11	61165333	61165333	+	Missense_Mutation	SNP	A	A	T	rs559802280		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:61165333A>T	ENST00000515837.2	+	4	1262	c.317A>T	c.(316-318)tAc>tTc	p.Y106F	TMEM216_ENST00000398979.3_Missense_Mutation_p.Y45F|TMEM216_ENST00000334888.5_Missense_Mutation_p.Y106F			Q9P0N5	TM216_HUMAN	transmembrane protein 216	106					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.Y106F(1)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						GCCTCCTATTACCTGCTGCTG	0.527																																						uc010rlj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)TAC>TTC		transmembrane protein 216							192.0	185.0	187.0					11																	61165333		2115	4248	6363	SO:0001583	missense	51259					integral to membrane		g.chr11:61165333A>T		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.317A>T	11.37:g.61165333A>T	ENSP00000440638:p.Tyr106Phe					TMEM216_uc001nrn.1_Missense_Mutation_p.Y45F	p.Y99F	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN			4	589	+			99			Helical; (Potential).		A8MZ23|B7Z8N1	Missense_Mutation	SNP	ENST00000515837.2	37	c.296A>T	CCDS53640.1	.	.	.	.	.	.	.	.	.	.	A	5.154	0.213940	0.09810	.	.	ENSG00000187049	ENST00000515837;ENST00000334888;ENST00000398979	D;D;D	0.85629	-2.01;-2.01;-2.01	6.16	5.04	0.67666	.	0.292858	0.33591	N	0.004744	T	0.62684	0.2448	N	0.04669	-0.19	0.37912	D	0.931392	B;B	0.17667	0.015;0.023	B;B	0.17433	0.018;0.015	T	0.58233	-0.7672	10	0.02654	T	1	-12.816	6.508	0.22206	0.788:0.0:0.0734:0.1386	.	99;45	Q9P0N5;Q9P0N5-2	TM216_HUMAN;.	F	106;106;45	ENSP00000440638:Y106F;ENSP00000334844:Y106F;ENSP00000381950:Y45F	ENSP00000334844:Y106F	Y	+	2	0	TMEM216	60921909	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	2.701000	0.47094	1.157000	0.42530	0.528000	0.53228	TAC		PASS	0.527	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499		66	176	66	176	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62655847	62655847	+	Silent	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:62655847G>A	ENST00000377890.2	+	12	1743	c.1575G>A	c.(1573-1575)cgG>cgA	p.R525R	SLC3A2_ENST00000377892.1_Silent_p.R556R|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Silent_p.R494R|SLC3A2_ENST00000377889.2_Silent_p.R463R|SLC3A2_ENST00000377891.2_Silent_p.R526R|SLC3A2_ENST00000338663.7_Silent_p.R424R|SLC3A2_ENST00000536981.1_Silent_p.R70R	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	525					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.R556R(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGTTCCGGCGGCTGAGTGACC	0.587																																						uc001nwd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1573-1575)CGG>CGA		solute carrier family 3, member 2 isoform c							51.0	50.0	50.0					11																	62655847		2201	4298	6499	SO:0001819	synonymous_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62655847G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1575G>A	11.37:g.62655847G>A						SLC3A2_uc001nwb.2_Silent_p.R556R|SLC3A2_uc001nwc.2_Silent_p.R526R|SLC3A2_uc001nwe.2_Silent_p.R494R|SLC3A2_uc001nwf.2_Silent_p.R463R|SLC3A2_uc001nwg.2_Silent_p.R424R	p.R525R	NM_002394	NP_002385	P08195	4F2_HUMAN			12	1799	+			525			Extracellular (Potential).		Q13543	Silent	SNP	ENST00000377890.2	37	c.1575G>A	CCDS8039.2																																																																																				PASS	0.587	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		54	83	54	83	---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64022421	64022421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:64022421G>T	ENST00000540288.1	+	4	401	c.298G>T	c.(298-300)Gag>Tag	p.E100*	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.E100*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	100					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E100*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGCCCGGCTGGAGGAGAAGCT	0.617																																						uc001nzb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(298-300)GAG>TAG		phospholipase C beta 3							60.0	59.0	60.0					11																	64022421		2201	4297	6498	SO:0001587	stop_gained	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64022421G>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.298G>T	11.37:g.64022421G>T	ENSP00000443631:p.Glu100*					PLCB3_uc009ypg.1_Nonsense_Mutation_p.E100*|PLCB3_uc009yph.1_Intron|PLCB3_uc009ypi.2_Nonsense_Mutation_p.E100*	p.E100*	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			4	298	+			100					A5PKZ6|G5E960|Q8N1A4	Nonsense_Mutation	SNP	ENST00000540288.1	37	c.298G>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	g	26.5	4.740258	0.89573	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	.	.	.	4.58	4.58	0.56647	.	0.482216	0.21665	N	0.070960	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.5403	0.84383	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000279230:E100X	E	+	1	0	PLCB3	63778997	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	4.516000	0.60496	2.278000	0.76064	0.486000	0.48141	GAG		PASS	0.617	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			9	52	9	52	---	---	---	---
PLCB3	5331	broad.mit.edu	37	11	64028885	64028885	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:64028885G>T	ENST00000540288.1	+	15	1848	c.1745G>T	c.(1744-1746)aGc>aTc	p.S582I	PLCB3_ENST00000325234.5_Missense_Mutation_p.S515I|PLCB3_ENST00000279230.6_Missense_Mutation_p.S582I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	582					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S582I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACAGCCAGCAGCGAGGTGAAT	0.607																																						uc001nzb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1744-1746)AGC>ATC		phospholipase C beta 3							117.0	93.0	101.0					11																	64028885		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64028885G>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1745G>T	11.37:g.64028885G>T	ENSP00000443631:p.Ser582Ile					PLCB3_uc009ypg.1_Missense_Mutation_p.S582I|PLCB3_uc009yph.1_Missense_Mutation_p.S515I|PLCB3_uc009ypi.2_Missense_Mutation_p.S582I	p.S582I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			15	1745	+			582					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.1745G>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547737	0.65311	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.54071	0.59;0.59;0.59	4.85	4.85	0.62838	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.216213	0.53938	D	0.000047	T	0.69296	0.3095	L	0.59436	1.845	0.58432	D	0.999992	D;D	0.89917	1.0;0.979	D;P	0.85130	0.997;0.597	T	0.71414	-0.4600	10	0.54805	T	0.06	.	16.714	0.85393	0.0:0.0:1.0:0.0	.	515;582	G5E960;Q01970	.;PLCB3_HUMAN	I	582;582;515	ENSP00000279230:S582I;ENSP00000443631:S582I;ENSP00000324660:S515I	ENSP00000279230:S582I	S	+	2	0	PLCB3	63785461	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	3.145000	0.50623	2.250000	0.74265	0.305000	0.20034	AGC		PASS	0.607	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			9	71	9	71	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64418069	64418069	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:64418069A>T	ENST00000377551.1	-	14	3171	c.2960T>A	c.(2959-2961)tTg>tAg	p.L987*	NRXN2_ENST00000409571.1_Nonsense_Mutation_p.L980*|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Nonsense_Mutation_p.L947*|NRXN2_ENST00000265459.6_Nonsense_Mutation_p.L987*			Q9P2S2	NRX2A_HUMAN	neurexin 2	987	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.L987*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCCTTCATCAAGGACGGGCC	0.587											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oar.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2959-2961)TTG>TAG		neurexin 2 isoform alpha-1 precursor							237.0	171.0	193.0					11																	64418069		2201	4297	6498	SO:0001587	stop_gained	9379				cell adhesion	integral to membrane		g.chr11:64418069A>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2960T>A	11.37:g.64418069A>T	ENSP00000366774:p.Leu987*		OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	NRXN2_uc001oas.2_Nonsense_Mutation_p.L947*|NRXN2_uc001oaq.2_Nonsense_Mutation_p.L654*	p.L987*	NM_015080	NP_055895	P58401	NRX2B_HUMAN			16	3399	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Nonsense_Mutation	SNP	ENST00000377551.1	37	c.2960T>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	A	42	9.455475	0.99175	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	.	.	.	3.72	3.72	0.42706	.	0.000000	0.34828	U	0.003643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7004	0.45924	1.0:0.0:0.0:0.0	.	.	.	.	X	987;947;987;947;980	.	ENSP00000265459:L987X	L	-	2	0	NRXN2	64174645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.036000	0.93758	1.686000	0.51046	0.533000	0.62120	TTG		PASS	0.587	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		33	149	33	149	---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71189499	71189499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:71189499C>A	ENST00000319023.2	+	10	1045	c.857C>A	c.(856-858)tCa>tAa	p.S286*	NADSYN1_ENST00000530055.1_5'Flank|NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.S26*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	286	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.S286*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GCGGAGATTTCATCTCGAAAC	0.572																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(856-858)TCA>TAA		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						49.0	45.0	47.0					11																	71189499		2200	4294	6494	SO:0001587	stop_gained	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71189499C>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.857C>A	11.37:g.71189499C>A	ENSP00000326424:p.Ser286*					NADSYN1_uc001oqo.2_Nonsense_Mutation_p.S26*|NADSYN1_uc001oqp.2_5'Flank	p.S286*	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			10	983	+			286			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonsense_Mutation	SNP	ENST00000319023.2	37	c.857C>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	43	10.411593	0.99400	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	.	.	.	4.67	4.67	0.58626	.	0.470566	0.20453	N	0.092060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5204	15.4415	0.75187	0.0:1.0:0.0:0.0	.	.	.	.	X	286;26	.	ENSP00000326424:S286X	S	+	2	0	NADSYN1	70867147	0.994000	0.37717	0.782000	0.31804	0.942000	0.58702	3.802000	0.55553	2.289000	0.77006	0.561000	0.74099	TCA		PASS	0.572	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		5	21	5	21	---	---	---	---
MAP6	4135	broad.mit.edu	37	11	75298590	75298590	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:75298590G>T	ENST00000304771.3	-	4	2706	c.1956C>A	c.(1954-1956)gcC>gcA	p.A652A	MAP6_ENST00000526740.1_Silent_p.A323A|MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	652	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.A652A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTGTGGCCATGGCACTTTCAT	0.502																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1954-1956)GCC>GCA		microtubule-associated protein 6 isoform 1							171.0	154.0	160.0					11																	75298590		2200	4293	6493	SO:0001819	synonymous_variant	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298590G>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1956C>A	11.37:g.75298590G>T							p.A652A	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	2021	-	Ovarian(111;0.11)		652			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Silent	SNP	ENST00000304771.3	37	c.1956C>A	CCDS31641.1																																																																																				PASS	0.502	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		22	164	22	164	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92714979	92714979	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:92714979G>A	ENST00000257068.2	+	2	596	c.590G>A	c.(589-591)aGc>aAc	p.S197N		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	197					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.S197N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CAGACCGCCAGCACCCAGTAC	0.607																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(589-591)AGC>AAC		melatonin receptor 1B	Ramelteon(DB00980)						67.0	64.0	65.0					11																	92714979		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714979G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.590G>A	11.37:g.92714979G>A	ENSP00000257068:p.Ser197Asn						p.S197N	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	693	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	197			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.590G>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726533	0.30593	.	.	ENSG00000134640	ENST00000257068	T	0.35605	1.3	4.21	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.41236	0.1150	M	0.74389	2.26	0.53688	D	0.999977	B	0.24823	0.112	B	0.34385	0.181	T	0.27262	-1.0079	10	0.22109	T	0.4	-23.9187	12.6184	0.56590	0.0816:0.0:0.9184:0.0	.	197	P49286	MTR1B_HUMAN	N	197	ENSP00000257068:S197N	ENSP00000257068:S197N	S	+	2	0	MTNR1B	92354627	1.000000	0.71417	0.041000	0.18516	0.037000	0.13140	5.795000	0.69074	1.117000	0.41842	0.491000	0.48974	AGC		PASS	0.607	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			15	44	15	44	---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94704172	94704172	+	5'Flank	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:94704172G>A	ENST00000335080.5	+	0	0				KDM4D_ENST00000536741.1_5'Flank|CWC15_ENST00000279839.6_Missense_Mutation_p.A101V|CWC15_ENST00000545018.1_5'UTR	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ATCAAGGTTGGCGGCAGGAAT	0.368																																						uc001pfd.3																			0					0						c.(301-303)GCC>GTC		CWC15 homolog							183.0	182.0	182.0					11																	94704172		1870	4095	5965	SO:0001631	upstream_gene_variant	51503				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding	g.chr11:94704172G>A	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838		11.37:g.94704172G>A	Exception_encountered					CWC15_uc009ywl.1_3'UTR|KDM4D_uc001pfe.2_5'Flank	p.A101V	NM_016403	NP_057487	Q9P013	CWC15_HUMAN			4	425	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	101					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.302C>T	CCDS8302.1																																																																																				PASS	0.368	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		62	129	62	129	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105804490	105804490	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:105804490C>A	ENST00000530497.1	+	13	2089	c.2089C>A	c.(2089-2091)Cga>Aga	p.R697R	GRIA4_ENST00000393127.2_Silent_p.R697R|GRIA4_ENST00000525187.1_Silent_p.R697R|AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000282499.5_Silent_p.R697R			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	697					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R697R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GACCTACATGCGATCAGCAGA	0.403																																						uc001pix.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2089-2091)CGA>AGA		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						56.0	50.0	52.0					11																	105804490		2202	4299	6501	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105804490C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2089C>A	11.37:g.105804490C>A						GRIA4_uc001piw.2_Silent_p.R697R|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA	p.R697R	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	14	2535	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	697			Extracellular (Potential).		Q86XE8	Silent	SNP	ENST00000530497.1	37	c.2089C>A	CCDS8333.1																																																																																				PASS	0.403	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			9	37	9	37	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113679924	113679924	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:113679924C>A	ENST00000003302.4	-	17	2093	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	USP28_ENST00000544967.1_Silent_p.V383V|USP28_ENST00000545540.1_Silent_p.V550V|USP28_ENST00000260188.5_Silent_p.V675V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	675					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V675V(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCTTGAGTTCCACAGATAGGG	0.453																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(2023-2025)GTG>GTT		ubiquitin specific protease 28							337.0	343.0	341.0					11																	113679924		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113679924C>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2025G>T	11.37:g.113679924C>A						USP28_uc001pog.2_Silent_p.V383V|USP28_uc010rwy.1_Silent_p.V550V|USP28_uc001poi.2_Silent_p.V30V	p.V675V	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	17	2058	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	675					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.2025G>T	CCDS31680.1																																																																																				PASS	0.453	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			80	585	80	585	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124875010	124875010	+	Silent	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:124875010A>G	ENST00000344762.5	+	13	2572	c.2313A>G	c.(2311-2313)caA>caG	p.Q771Q	CCDC15_ENST00000529051.1_Silent_p.Q771Q	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	771						centrosome (GO:0005813)		p.Q771Q(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		tttagcgtcaaaagcagtacc	0.313																																						uc001qbm.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2311-2313)CAA>CAG		coiled-coil domain containing 15							46.0	40.0	41.0					11																	124875010		1812	4067	5879	SO:0001819	synonymous_variant	80071					centrosome		g.chr11:124875010A>G	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2313A>G	11.37:g.124875010A>G							p.Q771Q	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	13	2572	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	771					Q9H8U7	Silent	SNP	ENST00000344762.5	37	c.2313A>G	CCDS44756.1																																																																																				PASS	0.313	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		4	8	4	8	---	---	---	---
DCPS	28960	broad.mit.edu	37	11	126176543	126176543	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr11:126176543G>T	ENST00000263579.4	+	2	609	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L	RP11-712L6.5_ENST00000524964.1_5'Flank	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	94					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)	p.V94L(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GGTGGAACAGGTGGCTCAGCT	0.547																																						uc001qdp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)GTG>TTG		mRNA decapping enzyme							163.0	115.0	131.0					11																	126176543		2201	4298	6499	SO:0001583	missense	28960				deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	g.chr11:126176543G>T	AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.280G>T	11.37:g.126176543G>T	ENSP00000263579:p.Val94Leu						p.V94L	NM_014026	NP_054745	Q96C86	DCPS_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)	2	609	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	94					Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	ENST00000263579.4	37	c.280G>T	CCDS8473.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.423009	0.25639	.	.	ENSG00000110063	ENST00000263579	T	0.37584	1.19	5.4	5.4	0.78164	Scavenger mRNA decapping enzyme, N-terminal (1);	0.150369	0.45361	D	0.000377	T	0.15825	0.0381	N	0.08118	0	0.45415	D	0.998391	B	0.02656	0.0	B	0.04013	0.001	T	0.11767	-1.0574	10	0.02654	T	1	-13.651	10.305	0.43674	0.0902:0.0:0.9097:0.0	.	94	Q96C86	DCPS_HUMAN	L	94	ENSP00000263579:V94L	ENSP00000263579:V94L	V	+	1	0	DCPS	125681753	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.700000	0.47085	2.535000	0.85469	0.298000	0.19748	GTG		PASS	0.547	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386455.1	NM_014026		12	44	12	44	---	---	---	---
ERC1	23085	broad.mit.edu	37	12	1292459	1292459	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:1292459G>A	ENST00000397203.2	+	11	2435	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N	ERC1_ENST00000360905.4_Missense_Mutation_p.D677N|ERC1_ENST00000355446.5_Missense_Mutation_p.D677N|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000546231.2_Missense_Mutation_p.D677N|ERC1_ENST00000543086.3_Missense_Mutation_p.D649N|ERC1_ENST00000589028.1_Missense_Mutation_p.D677N			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	677					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.D677N(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TTCACTTTTGGATCTGAAAGA	0.358																																						uc001qjb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(2029-2031)GAT>AAT		RAB6-interacting protein 2 isoform epsilon							79.0	77.0	78.0					12																	1292459		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1292459G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2029G>A	12.37:g.1292459G>A	ENSP00000380386:p.Asp677Asn					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.D649N|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.D677N|ERC1_uc010sdv.1_Missense_Mutation_p.D425N|ERC1_uc009zdp.2_Missense_Mutation_p.D317N	p.D677N	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		11	2270	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		677			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.2029G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814707	0.90790	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.78816	0.77;-1.21;0.77;0.77;0.77;-1.21;-1.21;0.77	5.37	5.37	0.77165	.	0.096436	0.64402	D	0.000001	D	0.86226	0.5882	L	0.58101	1.795	0.80722	D	1	D;D;P;P;B	0.89917	1.0;0.999;0.481;0.481;0.277	D;D;B;B;B	0.91635	0.999;0.972;0.42;0.42;0.371	T	0.83314	-0.0021	10	0.30854	T	0.27	-28.8031	19.4993	0.95086	0.0:0.0:1.0:0.0	.	425;317;649;649;677	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	N	649;677;649;649;377;649;649;377;677;677;677;649;425;317	ENSP00000340054:D649N;ENSP00000380386:D677N;ENSP00000438546:D649N;ENSP00000442976:D377N;ENSP00000442739:D677N;ENSP00000347621:D677N;ENSP00000354158:D677N;ENSP00000410064:D649N	ENSP00000299183:D377N	D	+	1	0	ERC1	1162720	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.837000	0.99465	2.687000	0.91594	0.563000	0.77884	GAT		PASS	0.358	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		29	74	29	74	---	---	---	---
AICDA	57379	broad.mit.edu	37	12	8757847	8757847	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:8757847G>C	ENST00000229335.6	-	3	494	c.391C>G	c.(391-393)Cgc>Ggc	p.R131G	AICDA_ENST00000537228.1_Missense_Mutation_p.R131G	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	131					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R131G(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					ACCCCGGCGCGGTGCAGCCGC	0.642																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(391-393)CGC>GGC		activation-induced cytidine deaminase							19.0	21.0	20.0					12																	8757847		1905	4106	6011	SO:0001583	missense	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757847G>C	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.391C>G	12.37:g.8757847G>C	ENSP00000229335:p.Arg131Gly					AICDA_uc001qup.1_Missense_Mutation_p.R126G|AICDA_uc001quq.1_Missense_Mutation_p.R126G|AICDA_uc009zgd.1_Intron	p.R131G	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			3	470	-	Lung SC(5;0.184)		131					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.391C>G	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	7.110	0.575833	0.13623	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.66280	-0.2;-0.2	5.38	3.51	0.40186	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	0.147419	0.64402	D	0.000015	T	0.53722	0.1814	L	0.31526	0.94	0.42436	D	0.992693	B;B;B	0.32010	0.351;0.351;0.351	B;B;B	0.38803	0.189;0.282;0.189	T	0.53151	-0.8479	10	0.49607	T	0.09	-17.8334	12.3606	0.55201	0.0:0.0:0.5565:0.4434	.	131;131;131	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	G	131	ENSP00000229335:R131G;ENSP00000445691:R131G	ENSP00000229335:R131G	R	-	1	0	AICDA	8649114	1.000000	0.71417	0.970000	0.41538	0.010000	0.07245	3.656000	0.54467	0.609000	0.30018	-0.314000	0.08810	CGC		PASS	0.642	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		8	39	8	39	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14849359	14849359	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:14849359C>T	ENST00000261170.3	-	1	160	c.24G>A	c.(22-24)ttG>ttA	p.L8L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	8					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.L8L(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACCACAAAGCCAAGTCCAACA	0.532																																						uc001rcd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(22-24)TTG>TTA		guanylate cyclase 2C precursor							130.0	118.0	122.0					12																	14849359		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14849359C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.24G>A	12.37:g.14849359C>T						GUCY2C_uc009zhz.2_Silent_p.L8L	p.L8L	NM_004963	NP_004954	P25092	GUC2C_HUMAN			1	161	-			8					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.24G>A	CCDS8664.1																																																																																				PASS	0.532	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			16	47	16	47	---	---	---	---
PLCZ1	89869	broad.mit.edu	37	12	18854483	18854483	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:18854483T>A	ENST00000538330.1	-	5	696	c.315A>T	c.(313-315)gaA>gaT	p.E105D	PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E130D|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E321D|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E128D|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E186D|PLCZ1_ENST00000266505.7_Missense_Mutation_p.E323D					phospholipase C, zeta 1									p.E323D(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTACCCCTGTTTCCTTGTCTT	0.398																																						uc010sid.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(967-969)GAA>GAT		phospholipase C, zeta 1							139.0	142.0	141.0					12																	18854483		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18854483T>A	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.315A>T	12.37:g.18854483T>A	ENSP00000445880:p.Glu105Asp					PLCZ1_uc001rdv.3_Missense_Mutation_p.E219D|PLCZ1_uc001rdw.3_Missense_Mutation_p.E64D|PLCZ1_uc001rdu.1_Missense_Mutation_p.E105D|PLCZ1_uc009zil.1_RNA	p.E323D	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			9	1160	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		323						Missense_Mutation	SNP	ENST00000538330.1	37	c.969A>T		.	.	.	.	.	.	.	.	.	.	T	15.78	2.935626	0.52972	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242;ENST00000539072	T;T;T;T;T;T;T;T;T	0.74106	2.79;0.65;0.65;-0.04;0.65;-0.04;-0.04;0.65;-0.81	5.21	-9.09	0.00717	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	4.702090	0.00166	N	0.000002	T	0.72374	0.3452	L	0.54323	1.7	0.09310	N	1	D;D	0.60575	0.958;0.988	B;P	0.52343	0.369;0.696	T	0.69551	-0.5115	10	0.21540	T	0.41	.	8.8597	0.35249	0.0:0.4945:0.2345:0.271	.	323;105	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	D	105;323;321;128;186;130;58;64;150	ENSP00000445880:E105D;ENSP00000266505:E323D;ENSP00000402358:E321D;ENSP00000400504:E128D;ENSP00000443349:E186D;ENSP00000445026:E130D;ENSP00000445889:E58D;ENSP00000443762:E64D;ENSP00000438629:E150D	ENSP00000266505:E323D	E	-	3	2	PLCZ1	18745750	0.014000	0.17966	0.000000	0.03702	0.075000	0.17131	-0.203000	0.09438	-2.041000	0.00915	0.455000	0.32223	GAA		PASS	0.398	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		27	154	27	154	---	---	---	---
KCNJ8	3764	broad.mit.edu	37	12	21926429	21926429	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:21926429C>T	ENST00000240662.2	-	2	467	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	41					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.G41E(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GTTGCAGGCCCCGCTCTTGGC	0.622											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rff.2																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)GGG>GAG		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						103.0	95.0	98.0					12																	21926429		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21926429C>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.122G>A	12.37:g.21926429C>T	ENSP00000240662:p.Gly41Glu		OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.G41E	NM_004982	NP_004973	Q15842	IRK8_HUMAN			2	460	-			41			Cytoplasmic (By similarity).		O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.122G>A	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740859	0.89573	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.97924	-4.61;-4.61	4.88	3.99	0.46301	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99353	1.0915	10	0.87932	D	0	.	13.1628	0.59554	0.0:0.9231:0.0:0.0769	.	41	Q15842	IRK8_HUMAN	E	41	ENSP00000240662:G41E;ENSP00000440012:G41E	ENSP00000240662:G41E	G	-	2	0	KCNJ8	21817696	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.638000	0.83328	1.284000	0.44531	0.591000	0.81541	GGG		PASS	0.622	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		31	105	31	105	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26810795	26810795	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:26810795C>A	ENST00000381340.3	-	18	2453	c.2037G>T	c.(2035-2037)atG>atT	p.M679I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	679					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.M679I(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGGAGCTCTCCATGGGGTTGT	0.398																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2035-2037)ATG>ATT		inositol 1,4,5-triphosphate receptor, type 2							109.0	100.0	103.0					12																	26810795		1885	4102	5987	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26810795C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2037G>T	12.37:g.26810795C>A	ENSP00000370744:p.Met679Ile						p.M679I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			18	2454	-	Colorectal(261;0.0847)		679			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2037G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	9.717	1.158519	0.21454	.	.	ENSG00000123104	ENST00000381340	D	0.91124	-2.79	4.4	4.4	0.53042	.	0.522517	0.22469	N	0.059641	T	0.79028	0.4377	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71101	-0.4690	10	0.13470	T	0.59	.	8.2086	0.31471	0.1557:0.762:0.0:0.0823	.	679	Q14571	ITPR2_HUMAN	I	679	ENSP00000370744:M679I	ENSP00000370744:M679I	M	-	3	0	ITPR2	26702062	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.919000	0.48836	2.448000	0.82819	0.655000	0.94253	ATG		PASS	0.398	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		36	120	36	120	---	---	---	---
KRT18	3875	broad.mit.edu	37	12	53343127	53343127	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:53343127G>A	ENST00000388835.3	+	1	380	c.170G>A	c.(169-171)gGc>gAc	p.G57D	AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000552551.1_Intron|KRT8_ENST00000546897.1_Intron|KRT18_ENST00000550600.1_Missense_Mutation_p.G57D|KRT8_ENST00000549198.1_Intron|KRT18_ENST00000388837.2_Missense_Mutation_p.G57D	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	57	Head.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.G57D(1)		central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TTCAGGGGCGGCATGGGGTCC	0.697																																						uc001sbe.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(169-171)GGC>GAC		keratin 18							14.0	19.0	17.0					12																	53343127		2022	4048	6070	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53343127G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.170G>A	12.37:g.53343127G>A	ENSP00000373487:p.Gly57Asp					KRT18_uc009zmn.1_Missense_Mutation_p.G57D|KRT18_uc001sbf.1_5'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.G57D|KRT18_uc009zmo.2_Missense_Mutation_p.G57D|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	p.G57D	NM_199187	NP_954657	P05783	K1C18_HUMAN			2	239	+			57			Head.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.170G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299275	0.23650	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.84873	-1.88;-1.91;-1.88	3.79	2.89	0.33648	.	0.103397	0.39083	N	0.001473	T	0.80105	0.4562	M	0.62016	1.91	0.40042	D	0.975661	B;B	0.13594	0.008;0.005	B;B	0.16289	0.015;0.007	T	0.75382	-0.3337	10	0.39692	T	0.17	.	7.2132	0.25945	0.1211:0.0:0.8789:0.0	.	57;57	F8VZY9;P05783	.;K1C18_HUMAN	D	57	ENSP00000373489:G57D;ENSP00000447278:G57D;ENSP00000373487:G57D	ENSP00000373487:G57D	G	+	2	0	KRT18	51629394	0.004000	0.15560	0.809000	0.32408	0.122000	0.20287	0.839000	0.27586	1.197000	0.43143	0.556000	0.70494	GGC		PASS	0.697	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		3	41	3	41	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57592399	57592399	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:57592399G>A	ENST00000243077.3	+	60	10088	c.9622G>A	c.(9622-9624)Gcc>Acc	p.A3208T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3208					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.A3208T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGCCGACGCCCGCGAGGA	0.602																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(9622-9624)GCC>ACC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						73.0	55.0	61.0					12																	57592399		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57592399G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9622G>A	12.37:g.57592399G>A	ENSP00000243077:p.Ala3208Thr						p.A3208T	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	60	10088	+			3208			LDL-receptor class B 29.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9622G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157328	0.57259	.	.	ENSG00000123384	ENST00000243077	D	0.96427	-4.01	4.39	4.39	0.52855	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.97751	0.9262	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97873	1.0287	10	0.51188	T	0.08	.	16.2482	0.82460	0.0:0.0:1.0:0.0	.	3208	Q07954	LRP1_HUMAN	T	3208	ENSP00000243077:A3208T	ENSP00000243077:A3208T	A	+	1	0	LRP1	55878666	1.000000	0.71417	0.926000	0.36857	0.189000	0.23516	9.269000	0.95684	2.434000	0.82447	0.561000	0.74099	GCC		PASS	0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		6	23	6	23	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	64057611	64057611	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:64057611G>A	ENST00000324472.4	-	3	560	c.377C>T	c.(376-378)aCa>aTa	p.T126I	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	126					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.T126I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCAAAAAGTGTTACTAAATG	0.303																																						uc001srp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(376-378)ACA>ATA		dpy-19-like 2							45.0	43.0	44.0					12																	64057611		2203	4294	6497	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64057611G>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.377C>T	12.37:g.64057611G>A	ENSP00000315988:p.Thr126Ile					DPY19L2_uc009zqk.1_Intron	p.T126I	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	3	558	-			126			Helical; (Potential).		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.377C>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	7.717	0.696456	0.15106	.	.	ENSG00000177990	ENST00000324472	T	0.56275	0.47	2.5	2.5	0.30297	.	0.789742	0.11293	N	0.579046	T	0.52484	0.1737	M	0.73217	2.22	0.80722	D	1	B	0.17038	0.02	B	0.27608	0.081	T	0.49790	-0.8902	9	.	.	.	.	10.7323	0.46104	0.0:0.0:1.0:0.0	.	126	Q6NUT2	D19L2_HUMAN	I	126	ENSP00000315988:T126I	.	T	-	2	0	DPY19L2	62343878	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	1.784000	0.38674	1.389000	0.46526	0.184000	0.17185	ACA		PASS	0.303	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		30	86	30	86	---	---	---	---
KCNMB4	27345	broad.mit.edu	37	12	70760767	70760767	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:70760767G>C	ENST00000258111.4	+	1	712	c.253G>C	c.(253-255)Gtc>Ctc	p.V85L		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	85					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)	p.V85L(1)		kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GTACCCCTGCGTCCAGGTCTA	0.637																																						uc001svx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)GTC>CTC		calcium-activated potassium channel beta 4							62.0	62.0	62.0					12																	70760767		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70760767G>C	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.253G>C	12.37:g.70760767G>C	ENSP00000258111:p.Val85Leu						p.V85L	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		1	706	+	Renal(347;0.236)		85			Extracellular (Potential).		Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.253G>C	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	G	6.498	0.460047	0.12342	.	.	ENSG00000135643	ENST00000258111	T	0.04275	3.66	3.37	2.36	0.29203	.	0.342289	0.22301	N	0.061863	T	0.00815	0.0027	N	0.00062	-2.325	0.31868	N	0.620079	B	0.02656	0.0	B	0.04013	0.001	T	0.38735	-0.9647	10	0.02654	T	1	-4.1367	7.2415	0.26100	0.0:0.4735:0.3802:0.1462	.	85	Q86W47	KCMB4_HUMAN	L	85	ENSP00000258111:V85L	ENSP00000258111:V85L	V	+	1	0	KCNMB4	69047034	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.380000	0.59581	1.572000	0.49736	0.491000	0.48974	GTC		PASS	0.637	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		21	152	21	152	---	---	---	---
SYT1	6857	broad.mit.edu	37	12	79693310	79693310	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:79693310G>T	ENST00000261205.4	+	8	1446	c.789G>T	c.(787-789)ctG>ctT	p.L263L	SYT1_ENST00000552744.1_Silent_p.L263L|SYT1_ENST00000393240.3_Silent_p.L263L|SYT1_ENST00000457153.2_Silent_p.L260L	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	263	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.L263L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GGCGTGACCTGCAAAGTGCTG	0.393																																						uc001sys.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|pancreas(2)|ovary(1)	6						c.(787-789)CTG>CTT		synaptotagmin I							134.0	125.0	128.0					12																	79693310		2203	4299	6502	SO:0001819	synonymous_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79693310G>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.789G>T	12.37:g.79693310G>T						SYT1_uc001syt.2_Silent_p.L263L|SYT1_uc001syu.2_Silent_p.L260L|SYT1_uc001syv.2_Silent_p.L263L	p.L263L	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			9	1460	+			263			Cytoplasmic (Potential).|Phospholipid binding (Probable).		Q6AI31	Silent	SNP	ENST00000261205.4	37	c.789G>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	9.041	0.989769	0.18966	.	.	ENSG00000067715	ENST00000549559	.	.	.	5.61	4.71	0.59529	.	.	.	.	.	T	0.60314	0.2259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58261	-0.7667	4	.	.	.	.	9.6919	0.40134	0.0739:0.1475:0.7786:0.0	.	.	.	.	F	165	.	.	C	+	2	0	SYT1	78217441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.963000	0.29293	1.320000	0.45209	0.650000	0.86243	TGC		PASS	0.393	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		40	104	40	104	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104089553	104089553	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:104089553C>T	ENST00000388887.2	+	33	3717	c.3513C>T	c.(3511-3513)gcC>gcT	p.A1171A		NM_017564.9	NP_060034.9			stabilin 2									p.A1171A(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGCCGATGCCTACACAGTGT	0.448																																						uc001tjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(3511-3513)GCC>GCT		stabilin 2 precursor							112.0	105.0	108.0					12																	104089553		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089553C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3513C>T	12.37:g.104089553C>T							p.A1171A	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			33	3699	+			1171			Extracellular (Potential).|FAS1 4.			Silent	SNP	ENST00000388887.2	37	c.3513C>T	CCDS31888.1																																																																																				PASS	0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			24	65	24	65	---	---	---	---
MTERF2	80298	broad.mit.edu	37	12	107372288	107372288	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:107372288C>T	ENST00000552029.1	-	2	2273	c.205G>A	c.(205-207)Gta>Ata	p.V69I	C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Missense_Mutation_p.V69I|MTERFD3_ENST00000392830.2_Missense_Mutation_p.V69I			Q49AM1	MTEF2_HUMAN		69					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)	p.V69I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TCTAAAAGTACCCATCCTTTT	0.373																																						uc001tme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)GTA>ATA		transcription termination factor-like protein							117.0	114.0	115.0					12																	107372288		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372288C>T																												ENST00000552029.1:c.205G>A	12.37:g.107372288C>T	ENSP00000447651:p.Val69Ile					MTERFD3_uc001tmf.1_Missense_Mutation_p.V69I|MTERFD3_uc001tmg.1_Missense_Mutation_p.V69I|MTERFD3_uc001tmh.1_Missense_Mutation_p.V69I	p.V69I	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			2	2024	-			69					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.205G>A	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080918	0.76528	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101;ENST00000550736	T;T;T;T;T	0.49720	2.77;2.77;2.77;2.77;0.77	5.81	5.81	0.92471	.	0.056109	0.64402	D	0.000001	T	0.62877	0.2464	L	0.56769	1.78	0.80722	D	1	D	0.52996	0.957	P	0.56823	0.807	T	0.59408	-0.7460	10	0.45353	T	0.12	9.1865	20.0755	0.97742	0.0:1.0:0.0:0.0	.	69	Q49AM1	MTER3_HUMAN	I	69	ENSP00000376575:V69I;ENSP00000240050:V69I;ENSP00000447651:V69I;ENSP00000448343:V69I;ENSP00000448854:V69I	ENSP00000240050:V69I	V	-	1	0	MTERFD3	105896418	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	5.761000	0.68801	2.749000	0.94314	0.460000	0.39030	GTA		PASS	0.373	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			67	132	67	132	---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109095058	109095058	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:109095058C>A	ENST00000261401.3	-	2	209	c.37G>T	c.(37-39)Gta>Tta	p.V13L	CORO1C_ENST00000549772.1_Missense_Mutation_p.V19L|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.V13L|CORO1C_ENST00000420959.2_Missense_Mutation_p.V66L	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	13					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.V13L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TGCCCAAATACATGCCGAAAC	0.443																																						uc001tnj.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(37-39)GTA>TTA		coronin, actin binding protein, 1C isoform 1							162.0	132.0	142.0					12																	109095058		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109095058C>A	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.37G>T	12.37:g.109095058C>A	ENSP00000261401:p.Val13Leu					CORO1C_uc009zva.2_Missense_Mutation_p.V66L|CORO1C_uc010sxf.1_Missense_Mutation_p.V13L	p.V13L	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			2	133	-			13					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.37G>T	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465269	0.96257	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000549772;ENST00000420959;ENST00000547294;ENST00000550032;ENST00000551550;ENST00000546571;ENST00000551044	T;T;T;T;T;T;T;T;T	0.80123	-0.41;-0.41;-0.36;-0.56;-0.61;-0.21;-0.78;-0.98;-1.34	5.27	5.27	0.74061	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	M	0.83774	2.66	0.80722	D	1	D;D;D	0.61697	0.988;0.99;0.988	P;D;P	0.65874	0.901;0.939;0.897	D	0.91169	0.4967	10	0.62326	D	0.03	-11.9245	18.9628	0.92682	0.0:1.0:0.0:0.0	.	13;66;13	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	L	13;13;19;66;13;13;13;13;13	ENSP00000261401:V13L;ENSP00000438341:V13L;ENSP00000447534:V19L;ENSP00000394496:V66L;ENSP00000449330:V13L;ENSP00000447989:V13L;ENSP00000448527:V13L;ENSP00000448195:V13L;ENSP00000447049:V13L	ENSP00000261401:V13L	V	-	1	0	CORO1C	107619187	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.721000	0.68477	2.467000	0.83353	0.586000	0.80456	GTA		PASS	0.443	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		28	118	28	118	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113556992	113556992	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:113556992G>T	ENST00000261729.5	-	8	898	c.583C>A	c.(583-585)Cca>Aca	p.P195T	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.P195T|RASAL1_ENST00000546530.1_Missense_Mutation_p.P195T|RASAL1_ENST00000548055.1_Missense_Mutation_p.P195T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	195	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.P195T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACCCGCAGTGGGGACGGGGCA	0.597																																						uc001tum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(583-585)CCA>ACA		RAS protein activator like 1							85.0	74.0	78.0					12																	113556992		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113556992G>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.583C>A	12.37:g.113556992G>T	ENSP00000261729:p.Pro195Thr					RASAL1_uc010syp.1_Missense_Mutation_p.P195T|RASAL1_uc001tul.2_Missense_Mutation_p.P195T|RASAL1_uc001tun.1_Missense_Mutation_p.P195T|RASAL1_uc010syq.1_Missense_Mutation_p.P195T|RASAL1_uc001tuo.3_Missense_Mutation_p.P195T|RASAL1_uc010syr.1_Missense_Mutation_p.P195T	p.P195T	NM_004658	NP_004649	O95294	RASL1_HUMAN			8	876	-			195			C2 2.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.583C>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751326	0.31046	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.46	4.57	0.56435	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.338343	0.30752	N	0.008960	T	0.65080	0.2657	N	0.16016	0.355	0.28499	N	0.914085	B;B;B;B;B;B;B	0.18013	0.025;0.025;0.02;0.025;0.002;0.005;0.02	B;B;B;B;B;B;B	0.19666	0.026;0.016;0.015;0.026;0.004;0.026;0.015	T	0.51624	-0.8682	10	0.14656	T	0.56	.	13.265	0.60128	0.0783:0.0:0.9217:0.0	.	195;195;195;207;195;195;195	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	T	195	ENSP00000450244:P195T;ENSP00000261729:P195T;ENSP00000395920:P195T;ENSP00000448510:P195T	ENSP00000261729:P195T	P	-	1	0	RASAL1	112041375	0.002000	0.14202	0.992000	0.48379	0.948000	0.59901	0.634000	0.24614	1.315000	0.45114	0.491000	0.48974	CCA		PASS	0.597	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		63	104	63	104	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122669155	122669155	+	Silent	SNP	G	G	T	rs200132936		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:122669155G>T	ENST00000339777.4	+	2	268	c.240G>T	c.(238-240)acG>acT	p.T80T	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	80								p.T80T(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GAGAGGAGACGGTGGAGGCCC	0.597																																						uc009zxm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(238-240)ACG>ACT		leucine rich repeat containing 43 isoform 1							43.0	45.0	44.0					12																	122669155		1926	4120	6046	SO:0001819	synonymous_variant	254050							g.chr12:122669155G>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.240G>T	12.37:g.122669155G>T						LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	p.T80T	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	2	265	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		80					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.240G>T	CCDS45001.1																																																																																				PASS	0.597	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		16	27	16	27	---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123060176	123060176	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:123060176G>T	ENST00000333479.7	+	28	2646	c.2469G>T	c.(2467-2469)ctG>ctT	p.L823L	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	823					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.L823L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AACAGCACCTGGAAATGGACC	0.428																																						uc001ucv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(2467-2469)CTG>CTT		Rough Deal homolog, centromere/kinetochore							100.0	103.0	102.0					12																	123060176		2076	4210	6286	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123060176G>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2469G>T	12.37:g.123060176G>T						KNTC1_uc010taf.1_Intron	p.L823L	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	28	2632	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		823					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.2469G>T	CCDS45002.1																																																																																				PASS	0.428	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	17	5	17	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130184949	130184949	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:130184949A>T	ENST00000422113.2	-	2	700	c.374T>A	c.(373-375)cTt>cAt	p.L125H	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	125					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.L125H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTTCCAGTTAAGAGAAAATTT	0.512																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(373-375)CTT>CAT		transmembrane protein 132D precursor							57.0	57.0	57.0					12																	130184949		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184949A>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.374T>A	12.37:g.130184949A>T	ENSP00000408581:p.Leu125His						p.L125H	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	702	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	125			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.374T>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911278	0.33721	.	.	ENSG00000151952	ENST00000422113	T	0.13089	2.62	5.33	5.33	0.75918	.	0.231220	0.29537	N	0.011867	T	0.21103	0.0508	L	0.56769	1.78	0.09310	N	1	P	0.49090	0.919	P	0.48738	0.588	T	0.09751	-1.0660	9	.	.	.	-17.5291	11.6433	0.51246	0.8673:0.0:0.0:0.1327	.	125	Q14C87	T132D_HUMAN	H	125	ENSP00000408581:L125H	.	L	-	2	0	TMEM132D	128750902	0.992000	0.36948	0.044000	0.18714	0.303000	0.27691	3.413000	0.52686	2.001000	0.58596	0.454000	0.30748	CTT		PASS	0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		20	59	20	59	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130185002	130185002	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr12:130185002G>T	ENST00000422113.2	-	2	647	c.321C>A	c.(319-321)ccC>ccA	p.P107P	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	107					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P107P(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTAAATCCTGGGGCACCACTT	0.498																																						uc009zyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(319-321)CCC>CCA		transmembrane protein 132D precursor							65.0	67.0	66.0					12																	130185002		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185002G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.321C>A	12.37:g.130185002G>T							p.P107P	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	649	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	107			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.321C>A	CCDS9266.1																																																																																				PASS	0.498	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		28	78	28	78	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21361694	21361694	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr13:21361694G>A	ENST00000255305.6	-	21	3162	c.3091C>T	c.(3091-3093)Ccg>Tcg	p.P1031S	XPO4_ENST00000400602.2_Missense_Mutation_p.P1031S			Q9C0E2	XPO4_HUMAN	exportin 4	1031					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P1004S(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TCAGCTAACGGTGTCAAGGCC	0.423																																						uc001unq.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|kidney(1)	3						c.(3091-3093)CCG>TCG		exportin 4							133.0	133.0	133.0					13																	21361694		1928	4133	6061	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21361694G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3091C>T	13.37:g.21361694G>A	ENSP00000255305:p.Pro1031Ser						p.P1031S	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	21	3127	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1031					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.3091C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460491	0.43736	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.64085	-0.08;-0.08	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);Exportin 1, C-terminal (1);	0.055840	0.64402	D	0.000001	T	0.37892	0.1020	N	0.02539	-0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.39840	-0.9594	10	0.08381	T	0.77	-14.2349	20.181	0.98201	0.0:0.0:1.0:0.0	.	1031	Q9C0E2	XPO4_HUMAN	S	1031	ENSP00000383444:P1031S;ENSP00000255305:P1031S	ENSP00000255305:P1031S	P	-	1	0	XPO4	20259694	1.000000	0.71417	0.684000	0.30055	0.991000	0.79684	9.173000	0.94815	2.840000	0.97914	0.655000	0.94253	CCG		PASS	0.423	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		36	91	36	91	---	---	---	---
OLFM4	10562	broad.mit.edu	37	13	53603174	53603174	+	Splice_Site	SNP	A	A	T	rs202053664	byFrequency	TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr13:53603174A>T	ENST00000219022.2	+	1	281	c.203A>T	c.(202-204)cAg>cTg	p.Q68L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	68	Ser-rich.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.Q68L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCTGTGTCCCAGGTGAGGAGG	0.557																																						uc001vhl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(202-204)CAG>CTG		olfactomedin 4 precursor							57.0	64.0	61.0					13																	53603174		2203	4300	6503	SO:0001630	splice_region_variant	10562				cell adhesion	extracellular space		g.chr13:53603174A>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.204+1A>T	13.37:g.53603174A>T						OLFM4_uc001vhk.1_Missense_Mutation_p.Q68L	p.Q68L	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	1	203	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	68			Ser-rich.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.203A>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592297	0.66219	.	.	ENSG00000102837	ENST00000219022	D	0.90844	-2.74	4.03	1.56	0.23342	.	0.431053	0.23821	N	0.044240	D	0.85673	0.5751	M	0.65498	2.005	0.26243	N	0.978842	B	0.33694	0.421	B	0.28139	0.086	T	0.78610	-0.2137	10	0.87932	D	0	.	5.3808	0.16189	0.7513:0.0:0.2487:0.0	.	68	Q6UX06	OLFM4_HUMAN	L	68	ENSP00000219022:Q68L	ENSP00000219022:Q68L	Q	+	2	0	OLFM4	52501175	0.929000	0.31497	0.765000	0.31456	0.851000	0.48451	1.450000	0.35134	0.345000	0.23873	0.533000	0.62120	CAG		PASS	0.557	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	Missense_Mutation	28	66	28	66	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70456586	70456586	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr13:70456586G>T	ENST00000377844.4	-	5	1815	c.1056C>A	c.(1054-1056)ctC>ctA	p.L352L	KLHL1_ENST00000545028.1_Silent_p.L159L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	352					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.L352L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAGCTGGAAGGAGTAAAAACT	0.383																																						uc001vip.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1054-1056)CTC>CTA		kelch-like 1 protein							113.0	102.0	106.0					13																	70456586		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70456586G>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1056C>A	13.37:g.70456586G>T						KLHL1_uc010thm.1_Silent_p.L291L	p.L352L	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	5	1850	-		Breast(118;0.000162)	352					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.1056C>A	CCDS9445.1																																																																																				PASS	0.383	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		32	63	32	63	---	---	---	---
GPR180	160897	broad.mit.edu	37	13	95278296	95278296	+	Splice_Site	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr13:95278296A>T	ENST00000376958.4	+	8	1188	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	388					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K388M(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CAAAGAGACAAGGTAAGAAAT	0.313																																						uc001vly.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1162-1164)AAG>ATG		G protein-coupled receptor 180 precursor							108.0	97.0	101.0					13																	95278296		2202	4300	6502	SO:0001630	splice_region_variant	160897					integral to membrane		g.chr13:95278296A>T	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.1164+1A>T	13.37:g.95278296A>T						GPR180_uc001vlz.2_Missense_Mutation_p.K287M|GPR180_uc010afi.2_Missense_Mutation_p.K149M	p.K388M	NM_180989	NP_851320	Q86V85	GP180_HUMAN			8	1241	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		388					A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	c.1163A>T	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411732	0.83340	.	.	ENSG00000152749	ENST00000376958	T	0.58210	0.35	6.08	6.08	0.98989	Rhodopsin-like GPCR transmembrane domain (1);	0.094021	0.64402	D	0.000001	T	0.70570	0.3239	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71451	-0.4589	10	0.54805	T	0.06	-15.209	16.6512	0.85203	1.0:0.0:0.0:0.0	.	388	Q86V85	GP180_HUMAN	M	388	ENSP00000366157:K388M	ENSP00000366157:K388M	K	+	2	0	GPR180	94076297	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	8.610000	0.90902	2.333000	0.79357	0.482000	0.46254	AAG		PASS	0.313	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989	Missense_Mutation	19	55	19	55	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248545	20248545	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:20248545G>A	ENST00000315957.4	+	1	145	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E22K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGACTCGGGAGGTCCAACT	0.373																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GAG>AAG		olfactory receptor, family 4, subfamily M,							169.0	182.0	178.0					14																	20248545		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248545G>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.64G>A	14.37:g.20248545G>A	ENSP00000319654:p.Glu22Lys						p.E22K	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	64	+	all_cancers(95;0.00108)		22			Extracellular (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.64G>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	9.708	1.156304	0.21454	.	.	ENSG00000176299	ENST00000315957	T	0.00441	7.41	4.2	4.2	0.49525	.	0.138022	0.33075	N	0.005320	T	0.00384	0.0012	L	0.56280	1.765	0.21386	N	0.999709	B	0.06786	0.001	B	0.08055	0.003	T	0.44298	-0.9337	10	0.44086	T	0.13	-10.5836	9.6145	0.39683	0.0:0.0:0.7913:0.2087	.	22	Q8NGD0	OR4M1_HUMAN	K	22	ENSP00000319654:E22K	ENSP00000319654:E22K	E	+	1	0	OR4M1	19318385	0.009000	0.17119	0.993000	0.49108	0.527000	0.34593	1.001000	0.29783	2.338000	0.79540	0.401000	0.26515	GAG		PASS	0.373	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			154	275	154	275	---	---	---	---
OR4L1	122742	broad.mit.edu	37	14	20529020	20529020	+	Missense_Mutation	SNP	G	G	A	rs191943707		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:20529020G>A	ENST00000315683.1	+	1	817	c.817G>A	c.(817-819)Gta>Ata	p.V273I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V273I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AACTCTTGCCGTATTTTATAC	0.368													G|||	0	0.0	0.0	0.0	5008	,	,		18841	0.0		0.0	False		,,,				2504	0.0					uc001vwn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(817-819)GTA>ATA		olfactory receptor, family 4, subfamily L,							95.0	92.0	93.0					14																	20529020		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20529020G>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.817G>A	14.37:g.20529020G>A	ENSP00000319217:p.Val273Ile						p.V273I	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	817	+	all_cancers(95;0.00108)		273			Helical; Name=7; (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.817G>A	CCDS32029.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	10.41	1.341906	0.24339	.	.	ENSG00000176246	ENST00000315683	T	0.00249	8.44	4.37	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.128559	0.34802	N	0.003673	T	0.00109	0.0003	L	0.35854	1.095	0.23661	N	0.997175	P	0.44380	0.834	B	0.38056	0.264	T	0.26744	-1.0094	10	0.10636	T	0.68	.	8.9557	0.35816	0.0:0.1607:0.6743:0.165	.	273	Q8NH43	OR4L1_HUMAN	I	273	ENSP00000319217:V273I	ENSP00000319217:V273I	V	+	1	0	OR4L1	19598860	0.005000	0.15991	0.913000	0.36048	0.897000	0.52465	0.246000	0.18160	1.169000	0.42739	0.650000	0.86243	GTA		PASS	0.368	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			114	116	114	116	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855646	23855646	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:23855646C>A	ENST00000356287.3	-	32	4866	c.4837G>T	c.(4837-4839)Gtc>Ttc	p.V1613F	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.V1613F			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1613					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.V1613F(1)|p.V1613I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACCCTCAGGACCTCGTTGCGG	0.597																																						uc001wjv.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(4837-4839)GTC>TTC		myosin heavy chain 6							167.0	154.0	158.0					14																	23855646		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855646C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4837G>T	14.37:g.23855646C>A	ENSP00000348634:p.Val1613Phe						p.V1613F	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4904	-	all_cancers(95;2.54e-05)		1613			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4837G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	18.51	3.639561	0.67244	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.79653	-1.29;-1.29	4.5	4.5	0.54988	Myosin tail (1);	.	.	.	.	T	0.75140	0.3809	L	0.34521	1.04	0.28712	N	0.903509	B	0.14012	0.009	B	0.13407	0.009	T	0.70802	-0.4773	9	0.87932	D	0	.	17.5797	0.87963	0.0:1.0:0.0:0.0	.	1613	P13533	MYH6_HUMAN	F	1613	ENSP00000386041:V1613F;ENSP00000348634:V1613F	ENSP00000348634:V1613F	V	-	1	0	MYH6	22925486	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.707000	0.84623	2.203000	0.70933	0.561000	0.74099	GTC		PASS	0.597	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			100	106	100	106	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	27064669	27064669	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:27064669T>A	ENST00000344429.5	-	2	230	c.227A>T	c.(226-228)cAa>cTa	p.Q76L	NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000547619.1_Missense_Mutation_p.Q76L|NOVA1_ENST00000539517.2_Missense_Mutation_p.Q76L|NOVA1_ENST00000465357.2_Missense_Mutation_p.Q76L|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000551754.1_5'Flank|NOVA1_ENST00000574031.1_Missense_Mutation_p.Q76L	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	76	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q76L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AGTTTCTTTTTGCAACTGAAC	0.423																																						uc001wpy.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(226-228)CAA>CTA		neuro-oncological ventral antigen 1 isoform 1							158.0	148.0	151.0					14																	27064669		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:27064669T>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.227A>T	14.37:g.27064669T>A	ENSP00000342387:p.Gln76Leu					NOVA1_uc001wpz.2_Missense_Mutation_p.Q76L|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Missense_Mutation_p.Q76L	p.Q76L	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	2	545	-			76			KH 1.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	c.227A>T	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.002940	0.54254	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000449198;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.1	5.1	0.69264	.	0.103804	0.42420	D	0.000718	T	0.64811	0.2632	M	0.89353	3.025	0.80722	D	1	D;P;P	0.52996	0.957;0.925;0.908	P;D;P	0.65140	0.723;0.932;0.888	T	0.72978	-0.4127	10	0.87932	D	0	-3.4345	15.1707	0.72872	0.0:0.0:0.0:1.0	.	76;76;76	P51513-2;D3DS81;P51513-4	.;.;.	L	76;76;35;39;76;76	ENSP00000447391:Q76L;ENSP00000438875:Q76L;ENSP00000408914:Q35L;ENSP00000449185:Q39L;ENSP00000342387:Q76L;ENSP00000448157:Q76L	ENSP00000342387:Q76L	Q	-	2	0	NOVA1	26134509	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.948000	0.87774	2.041000	0.60428	0.459000	0.35465	CAA		PASS	0.423	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		82	97	82	97	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71568781	71568781	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:71568781C>A	ENST00000304743.2	+	31	6110	c.5664C>A	c.(5662-5664)aaC>aaA	p.N1888K	PCNX_ENST00000439984.3_Missense_Mutation_p.N1777K|PCNX_ENST00000238570.5_Missense_Mutation_p.N1816K|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1888						integral component of membrane (GO:0016021)		p.N1888K(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATGAGAAGAACCTCGTAATAG	0.438																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5662-5664)AAC>AAA		pecanex-like 1							96.0	98.0	98.0					14																	71568781		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71568781C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5664C>A	14.37:g.71568781C>A	ENSP00000304192:p.Asn1888Lys					PCNX_uc010are.1_Missense_Mutation_p.N1777K|PCNX_uc010arf.1_Missense_Mutation_p.N676K|PCNX_uc001xmp.2_5'UTR	p.N1888K	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	31	6110	+			1888					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5664C>A	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.449|2.449	-0.326748|-0.326748	0.05350|0.05350	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.39997|.	1.05;1.05;1.05|.	5.56|5.56	2.61|2.61	0.31194|0.31194	.|.	0.045472|.	0.85682|.	D|.	0.000000|.	T|T	0.19846|0.19846	0.0477|0.0477	N|N	0.12746|0.12746	0.255|0.255	0.24664|0.24664	N|N	0.99345|0.99345	B;B;B|.	0.27068|.	0.041;0.05;0.167|.	B;B;B|.	0.26864|.	0.019;0.055;0.074|.	T|T	0.18681|0.18681	-1.0329|-1.0329	10|5	0.13108|.	T|.	0.6|.	.|.	6.6748|6.6748	0.23087|0.23087	0.0:0.6171:0.1474:0.2354|0.0:0.6171:0.1474:0.2354	.|.	1816;1777;1888|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	K|N	1888;1816;1777|875	ENSP00000304192:N1888K;ENSP00000238570:N1816K;ENSP00000396617:N1777K|.	ENSP00000238570:N1816K|.	N|T	+|+	3|2	2|0	PCNX|PCNX	70638534|70638534	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.825000|0.825000	0.46686|0.46686	0.278000|0.278000	0.18753|0.18753	1.358000|1.358000	0.45922|0.45922	0.655000|0.655000	0.94253|0.94253	AAC|ACC		PASS	0.438	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		77	119	77	119	---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72431529	72431529	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:72431529T>A	ENST00000553530.1	+	2	228	c.21T>A	c.(19-21)gaT>gaA	p.D7E	RGS6_ENST00000407322.4_Missense_Mutation_p.D7E|RGS6_ENST00000555571.1_Missense_Mutation_p.D7E|RGS6_ENST00000556437.1_Missense_Mutation_p.D7E|RGS6_ENST00000355512.6_Missense_Mutation_p.D7E|RGS6_ENST00000402788.2_Missense_Mutation_p.D7E|RGS6_ENST00000553525.1_Missense_Mutation_p.D7E|RGS6_ENST00000404301.2_Missense_Mutation_p.D7E|RGS6_ENST00000343854.6_Missense_Mutation_p.D7E|RGS6_ENST00000406236.4_Missense_Mutation_p.D7E	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	7					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D7E(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GATCCGGGGATCAAAGAGCAG	0.473																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(19-21)GAT>GAA		regulator of G-protein signalling 6							98.0	99.0	99.0					14																	72431529		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72431529T>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.21T>A	14.37:g.72431529T>A	ENSP00000452331:p.Asp7Glu					RGS6_uc010ttn.1_Missense_Mutation_p.D7E|RGS6_uc001xmx.3_Missense_Mutation_p.D7E|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.D7E	p.D7E	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	2	544	+			7					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.21T>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.538805	0.27475	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854	T;T;T;T;T;T;T;T;T;T	0.30981	1.7;1.52;1.52;1.7;1.53;1.67;1.67;1.67;1.52;1.51	5.63	-5.36	0.02689	.	0.205916	0.38436	N	0.001685	T	0.15089	0.0364	L	0.36672	1.1	0.30105	N	0.807126	P;P	0.39665	0.682;0.518	B;B	0.36134	0.218;0.164	T	0.42258	-0.9462	10	0.12766	T	0.61	-16.2497	8.8998	0.35487	0.0:0.5201:0.2595:0.2204	.	12;7	Q59FJ8;P49758	.;RGS6_HUMAN	E	7	ENSP00000451030:D7E;ENSP00000450936:D7E;ENSP00000452331:D7E;ENSP00000451855:D7E;ENSP00000347699:D7E;ENSP00000385243:D7E;ENSP00000384218:D7E;ENSP00000384612:D7E;ENSP00000383953:D7E;ENSP00000341199:D7E	ENSP00000341199:D7E	D	+	3	2	RGS6	71501282	0.971000	0.33674	0.739000	0.30968	0.181000	0.23173	-0.202000	0.09451	-1.049000	0.03234	-0.353000	0.07706	GAT		PASS	0.473	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			53	88	53	88	---	---	---	---
SERPINA11	256394	broad.mit.edu	37	14	94914513	94914513	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:94914513C>T	ENST00000334708.3	-	2	663	c.599G>A	c.(598-600)aGc>aAc	p.S200N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	200					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S382N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CGTGTCCTGGCTGAACTCCGG	0.468																																						uc001ydd.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(598-600)AGC>AAC		serpin peptidase inhibitor, clade A (alpha-1							99.0	100.0	100.0					14																	94914513		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914513C>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.599G>A	14.37:g.94914513C>T	ENSP00000335024:p.Ser200Asn						p.S200N	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	659	-			200					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.599G>A	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	0.745	-0.774886	0.02951	.	.	ENSG00000186910	ENST00000334708	D	0.85013	-1.93	5.04	-6.64	0.01801	Serpin domain (3);	1.644120	0.03463	N	0.212541	T	0.73791	0.3632	N	0.16862	0.45	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.62348	-0.6873	10	0.54805	T	0.06	.	11.4571	0.50189	0.0:0.5881:0.1104:0.3014	.	200	Q86U17	SPA11_HUMAN	N	200	ENSP00000335024:S200N	ENSP00000335024:S200N	S	-	2	0	SERPINA11	93984266	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.207000	0.17395	-1.416000	0.02019	-0.302000	0.09304	AGC		PASS	0.468	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		118	131	118	131	---	---	---	---
EVL	51466	broad.mit.edu	37	14	100603959	100603959	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:100603959C>G	ENST00000402714.2	+	10	1607	c.1003C>G	c.(1003-1005)Cct>Gct	p.P335A	EVL_ENST00000544450.2_Missense_Mutation_p.P341A|EVL_ENST00000392920.3_Missense_Mutation_p.P337A			Q9UI08	EVL_HUMAN	Enah/Vasp-like	335	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.P337A(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGTGGAGAAGCCTGTGTCCTC	0.612																																						uc001ygt.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.(1003-1005)CCT>GCT		Enah/Vasp-like							75.0	87.0	83.0					14																	100603959		2203	4300	6503	SO:0001583	missense	51466				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	g.chr14:100603959C>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.1003C>G	14.37:g.100603959C>G	ENSP00000384720:p.Pro335Ala					EVL_uc001ygv.2_Missense_Mutation_p.P341A|EVL_uc001ygu.2_Missense_Mutation_p.P337A|EVL_uc010avu.2_Missense_Mutation_p.P194A	p.P335A	NM_016337	NP_057421	Q9UI08	EVL_HUMAN			10	1242	+		Melanoma(154;0.152)	335			EVH2.		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.1003C>G		.	.	.	.	.	.	.	.	.	.	C	14.27	2.486252	0.44147	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000554695	T;T;T	0.71103	-0.54;-0.53;-0.51	4.73	4.73	0.59995	.	0.082412	0.51477	D	0.000086	T	0.80813	0.4695	L	0.54323	1.7	0.53005	D	0.999965	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	T	0.79536	-0.1763	10	0.34782	T	0.22	-10.4273	17.6886	0.88263	0.0:1.0:0.0:0.0	.	341;337;335	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	A	335;341;337;300;152	ENSP00000384720:P335A;ENSP00000437904:P341A;ENSP00000376652:P337A	ENSP00000376652:P337A	P	+	1	0	EVL	99673712	1.000000	0.71417	0.943000	0.38184	0.640000	0.38277	5.182000	0.65059	2.163000	0.67991	0.561000	0.74099	CCT		PASS	0.612	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			43	44	43	44	---	---	---	---
IGHV2-26	28455	broad.mit.edu	37	14	106757699	106757699	+	RNA	SNP	A	A	T	rs374195645		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr14:106757699A>T	ENST00000390611.2	-	0	331									immunoglobulin heavy variable 2-26																		CATGTTGGTCATGGTAAGGAC	0.502																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							179.0	167.0	171.0					14																	106757699		2003	4182	6185			8755							g.chr14:106757699A>T	M99648		14q32.33	2012-02-08			ENSG00000211951	ENSG00000211951		"""Immunoglobulins / IGH locus"""	5575	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152100		14.37:g.106757699A>T														472		-									RNA	SNP	ENST00000390611.2	37	c.16366T>A																																																																																					PASS	0.502	IGHV2-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325197.1	NG_001019		126	136	126	136	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20657624	20657624	+	RNA	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:20657624T>A	ENST00000428453.1	-	0	2334							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.I549F(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GACCTACCAATCAGGCGCAGT	0.468																																						uc001ytg.2																			1	Substitution - Missense(1)		lung(1)								c.(1645-1647)ATT>TTT		RecName: Full=Putative HERC2-like protein 3;							2.0	2.0	2.0					15																	20657624		883	2097	2980			0							g.chr15:20657624T>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657624T>A						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.I549F|uc010tyy.1_Missense_Mutation_p.I549F|uc010tyz.1_3'UTR	p.I549F							16	2354	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.1645A>T																																																																																					PASS	0.468	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	46	5	46	---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931648	23931648	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:23931648G>T	ENST00000331837.4	-	1	802	c.717C>A	c.(715-717)ttC>ttA	p.F239L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	239	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F239L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCATTTGGACGAACTCCTCAG	0.607									Prader-Willi syndrome																													uc001ywk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)TTC>TTA		necdin							42.0	40.0	40.0					15																	23931648		2203	4298	6501	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931648G>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.717C>A	15.37:g.23931648G>T	ENSP00000332643:p.Phe239Leu						p.F239L	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	803	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	239			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.717C>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323078	0.60634	.	.	ENSG00000182636	ENST00000331837	T	0.02737	4.18	3.08	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.03178	0.0093	N	0.12853	0.265	0.40260	D	0.978162	D	0.89917	1.0	D	0.97110	1.0	T	0.53753	-0.8394	10	0.02654	T	1	.	4.8965	0.13753	0.3129:0.0:0.6871:0.0	.	239	Q99608	NECD_HUMAN	L	239	ENSP00000332643:F239L	ENSP00000332643:F239L	F	-	3	2	NDN	21482741	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.734000	0.26101	0.297000	0.22615	0.561000	0.74099	TTC		PASS	0.607	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		3	81	3	81	---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25223422	25223422	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:25223422C>A	ENST00000400100.1	+	12	1532	c.642C>A	c.(640-642)ggC>ggA	p.G214G	SNRPN_ENST00000577565.1_Silent_p.G214G|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Silent_p.G214G|SNRPN_ENST00000346403.6_Silent_p.G214G|SNRPN_ENST00000444203.2_Silent_p.G218G|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400098.1_Silent_p.G214G|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400097.1_Silent_p.G214G|SNRPN_ENST00000554227.2_Silent_p.G218G	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	214	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.G214G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CGCCAATAGGCATGCCGCCTC	0.567									Prader-Willi syndrome																													uc001ywp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(640-642)GGC>GGA		small nuclear ribonucleoprotein polypeptide N							123.0	121.0	121.0					15																	25223422		1895	4107	6002	SO:0001819	synonymous_variant	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223422C>A	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.642C>A	15.37:g.25223422C>A						SNRPN_uc001ywq.1_Silent_p.G214G|SNRPN_uc001ywr.1_Silent_p.G214G|SNRPN_uc001yws.1_Silent_p.G214G|SNRPN_uc001ywt.1_Silent_p.G214G|SNRPN_uc001ywv.1_Silent_p.G217G|SNRPN_uc001yww.1_Silent_p.G214G|SNRPN_uc001ywx.1_Silent_p.G214G|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.G214G	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	12	1532	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	214			Repeat-rich region.		B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	ENST00000400100.1	37	c.642C>A	CCDS10017.1																																																																																				PASS	0.567	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		64	218	64	218	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27271912	27271912	+	Missense_Mutation	SNP	G	G	T	rs79497756		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:27271912G>T	ENST00000333743.6	+	3	468	c.214G>T	c.(214-216)Gta>Tta	p.V72L	GABRG3_ENST00000555083.1_Missense_Mutation_p.V72L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	72					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V72L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAACCGACCGTAATTGACGT	0.398																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)GTA>TTA		gamma-aminobutyric acid (GABA) A receptor, gamma							118.0	112.0	114.0					15																	27271912		1978	4174	6152	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27271912G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.214G>T	15.37:g.27271912G>T	ENSP00000331912:p.Val72Leu					GABRG3_uc001zbf.2_Missense_Mutation_p.V72L	p.V72L	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	3	380	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	72			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.214G>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	6.376	0.437439	0.12104	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	T;T	0.79454	-1.27;-1.27	5.96	4.1	0.47936	Neurotransmitter-gated ion-channel ligand-binding (3);	0.160749	0.41194	D	0.000929	T	0.73481	0.3592	L	0.53780	1.695	0.30770	N	0.743157	B;B	0.24651	0.108;0.018	B;B	0.38428	0.273;0.032	T	0.64398	-0.6417	10	0.09843	T	0.71	.	9.3607	0.38195	0.1474:0.0:0.8526:0.0	.	72;72	Q99928;G3V594	GBRG3_HUMAN;.	L	72	ENSP00000331912:V72L;ENSP00000452244:V72L	ENSP00000331912:V72L	V	+	1	0	GABRG3	24854658	1.000000	0.71417	0.070000	0.20053	0.207000	0.24258	4.282000	0.58971	0.859000	0.35456	0.655000	0.94253	GTA		PASS	0.398	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			13	47	13	47	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32929009	32929009	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:32929009A>T	ENST00000361627.3	+	12	2757	c.2035A>T	c.(2035-2037)Act>Tct	p.T679S	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.T490S|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.T490S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	679					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T679S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACCCCTTCAAACTCAAACATT	0.303																																					Colon(45;757 1134 30003 36652)	uc001zgy.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|urinary_tract(1)	6						c.(2035-2037)ACT>TCT		Rho GTPase activating protein 11A isoform 1							22.0	25.0	24.0					15																	32929009		2162	4263	6425	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929009A>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2035A>T	15.37:g.32929009A>T	ENSP00000355090:p.Thr679Ser					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.T490S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.T490S	p.T679S	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2757	+		all_lung(180;1.3e-11)	679					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2035A>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	0.206	-1.040607	0.02013	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.08720	3.06	4.88	3.73	0.42828	.	0.515043	0.17955	N	0.156400	T	0.05181	0.0138	L	0.35414	1.06	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.43589	-0.9382	10	0.10377	T	0.69	.	3.8848	0.09094	0.6631:0.1343:0.0734:0.1292	.	679	Q6P4F7	RHGBA_HUMAN	S	679;490	ENSP00000355090:T679S	ENSP00000355090:T679S	T	+	1	0	ARHGAP11A	30716301	0.690000	0.27699	0.398000	0.26321	0.236000	0.25371	1.092000	0.30927	0.960000	0.38005	0.528000	0.53228	ACT		PASS	0.303	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		19	71	19	71	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33927899	33927899	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:33927899G>T	ENST00000389232.4	+	26	3330	c.3260G>T	c.(3259-3261)tGg>tTg	p.W1087L	RYR3_ENST00000415757.3_Missense_Mutation_p.W1087L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1087	4 X approximate repeats.|B30.2/SPRY 2. {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)	p.W1087L(1)		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)		TCTGGAAAGTGGTATTTTGAG	0.532																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3259-3261)TGG>TTG		ryanodine receptor 3							77.0	77.0	77.0					15																	33927899		2054	4225	6279	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33927899G>T		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.3260G>T	15.37:g.33927899G>T	ENSP00000373884:p.Trp1087Leu					RYR3_uc010bar.2_Missense_Mutation_p.W1087L	p.W1087L	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)	26	3330	+		all_lung(180;7.18e-09)	1087			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3260G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122124	0.94429	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73575	-0.76;-0.76	5.32	5.32	0.75619	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	0.89880	0.6843	M	0.92923	3.36	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.91794	0.5446	10	0.87932	D	0	.	19.1899	0.93660	0.0:0.0:1.0:0.0	.	1087;1087	Q15413-2;Q15413	.;RYR3_HUMAN	L	1087	ENSP00000373884:W1087L;ENSP00000399610:W1087L	ENSP00000354735:W1087L	W	+	2	0	RYR3	31715191	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.538000	0.98072	2.760000	0.94817	0.655000	0.94253	TGG		PASS	0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			16	59	16	59	---	---	---	---
ACTC1	70	broad.mit.edu	37	15	35086886	35086886	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:35086886G>T	ENST00000290378.4	-	2	779	c.124C>A	c.(124-126)Cac>Aac	p.H42N	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	42					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.H42N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTTACCTGGTGCCGCGGGCGG	0.667																																						uc001ziu.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(124-126)CAC>AAC		cardiac muscle alpha actin 1 proprotein							17.0	20.0	19.0					15																	35086886		2174	4262	6436	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35086886G>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.124C>A	15.37:g.35086886G>T	ENSP00000290378:p.His42Asn					uc001zit.1_Intron	p.H42N	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	367	-		all_lung(180;2.3e-08)	42					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.124C>A	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815046	0.70912	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.91351	-2.83	4.21	3.29	0.37713	.	0.095552	0.39544	U	0.001325	D	0.90851	0.7126	L	0.53561	1.675	0.53688	D	0.999979	B	0.23316	0.083	B	0.41466	0.358	D	0.89068	0.3467	10	0.87932	D	0	.	12.1078	0.53821	0.0848:0.0:0.9152:0.0	.	42	P68032	ACTC_HUMAN	N	42	ENSP00000290378:H42N	ENSP00000290378:H42N	H	-	1	0	ACTC1	32874178	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.461000	0.97646	0.888000	0.36160	0.561000	0.74099	CAC		PASS	0.667	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		9	24	9	24	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35198840	35198840	+	Silent	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:35198840C>A	ENST00000156471.5	-	18	1962	c.1737G>T	c.(1735-1737)cgG>cgT	p.R579R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	579					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R579R(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGGTCTCCTCCGGTCAAACT	0.418																																						uc001ziv.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1735-1737)CGG>CGT		aquarius							128.0	118.0	121.0					15																	35198840		1920	4154	6074	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35198840C>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1737G>T	15.37:g.35198840C>A							p.R579R	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	18	1918	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	579					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.1737G>T	CCDS42013.1																																																																																				PASS	0.418	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		41	129	41	129	---	---	---	---
TMCO5A	145942	broad.mit.edu	37	15	38243320	38243320	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:38243320C>A	ENST00000319669.4	+	11	854	c.752C>A	c.(751-753)cCa>cAa	p.P251Q	TMCO5A_ENST00000540944.1_Intron|TMCO5A_ENST00000559502.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	251						integral component of membrane (GO:0016021)		p.P251Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TTCATAAATCCAGATCTCCTC	0.423																																						uc001zjw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(751-753)CCA>CAA		transmembrane and coiled-coil domains 5A							152.0	143.0	146.0					15																	38243320		2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38243320C>A	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.752C>A	15.37:g.38243320C>A	ENSP00000327234:p.Pro251Gln					TMCO5A_uc001zjv.1_Intron	p.P251Q	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN			11	855	+			251					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.752C>A	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173929	0.38413	.	.	ENSG00000166069	ENST00000319669	.	.	.	4.63	4.63	0.57726	.	0.137837	0.33772	N	0.004572	T	0.78091	0.4229	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80915	-0.1169	9	0.87932	D	0	-10.7213	12.8484	0.57844	0.0:1.0:0.0:0.0	.	251	Q8N6Q1	TMC5A_HUMAN	Q	251	.	ENSP00000327234:P251Q	P	+	2	0	TMCO5A	36030612	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	3.343000	0.52167	2.392000	0.81423	0.585000	0.79938	CCA		PASS	0.423	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		49	164	49	164	---	---	---	---
MGA	23269	broad.mit.edu	37	15	41961148	41961148	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:41961148G>C	ENST00000570161.1	+	1	56	c.56G>C	c.(55-57)gGa>gCa	p.G19A	MGA_ENST00000566586.1_Missense_Mutation_p.G19A|MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.G19A|MGA_ENST00000389936.4_Missense_Mutation_p.G19A|MGA_ENST00000219905.7_Missense_Mutation_p.G19A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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)	p.G19A(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACAGTGGCAGGAGCAGCACCT	0.423																																						uc001zog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(55-57)GGA>GCA		MAX-interacting protein isoform 2							138.0	141.0	140.0					15																	41961148		1966	4158	6124	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961148G>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.56G>C	15.37:g.41961148G>C	ENSP00000457035:p.Gly19Ala					MGA_uc010ucy.1_Missense_Mutation_p.G19A|MGA_uc010ucz.1_Missense_Mutation_p.G19A	p.G19A	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	147	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	19					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.56G>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738788	0.49045	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85411	-1.97;-1.98;-1.92	5.37	5.37	0.77165	.	0.142715	0.32970	N	0.005426	D	0.85053	0.5609	L	0.29908	0.895	0.30340	N	0.785833	D;P	0.65815	0.995;0.915	P;P	0.56398	0.797;0.519	D	0.83369	0.0006	10	0.52906	T	0.07	.	14.3247	0.66512	0.0:0.0:0.8517:0.1483	.	19;19	F5H7K2;E7ENI0	.;.	A	19	ENSP00000219905:G19A;ENSP00000374586:G19A;ENSP00000442467:G19A	ENSP00000219905:G19A	G	+	2	0	MGA	39748440	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.647000	0.61418	2.675000	0.91044	0.650000	0.86243	GGA		PASS	0.423	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		27	132	27	132	---	---	---	---
PLA2G4F	255189	broad.mit.edu	37	15	42439900	42439900	+	Missense_Mutation	SNP	C	C	A	rs200111531		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:42439900C>A	ENST00000382396.4	-	12	1206	c.1120G>T	c.(1120-1122)Ggc>Tgc	p.G374C	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.G376C			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	374	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.G374C(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCAGGCTGCCGTACAGAGAA	0.582																																						uc001zoz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1120-1122)GGC>TGC		phospholipase A2, group IVF							84.0	88.0	87.0					15																	42439900		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439900C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1120G>T	15.37:g.42439900C>A	ENSP00000371833:p.Gly374Cys					PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.G6C|PLA2G4F_uc010bcr.2_Missense_Mutation_p.G125C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.G125C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.G161C	p.G374C	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1183	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	374			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1120G>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632732	0.87660	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.60672	0.17;0.17	4.99	4.99	0.66335	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	D	0.000001	T	0.81288	0.4791	M	0.90650	3.135	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85024	0.0913	10	0.87932	D	0	-31.3021	18.8278	0.92125	0.0:1.0:0.0:0.0	.	161;374	A2RRC4;Q68DD2	.;PA24F_HUMAN	C	370;376;374;374;374	ENSP00000380442:G376C;ENSP00000371833:G374C	ENSP00000290497:G370C	G	-	1	0	PLA2G4F	40227192	1.000000	0.71417	0.969000	0.41365	0.927000	0.56198	6.232000	0.72313	2.756000	0.94617	0.561000	0.74099	GGC		PASS	0.582	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		32	84	32	84	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48594977	48594977	+	Silent	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:48594977A>T	ENST00000558405.1	+	26	3209	c.3195A>T	c.(3193-3195)atA>atT	p.I1065I	SLC12A1_ENST00000380993.3_Silent_p.I1065I|SLC12A1_ENST00000396577.3_Silent_p.I1065I			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1065					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.I1065I(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGGGATCCATATCGGATTTGT	0.368																																						uc001zwn.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(3193-3195)ATA>ATT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						110.0	110.0	110.0					15																	48594977		2198	4297	6495	SO:0001819	synonymous_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48594977A>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.3195A>T	15.37:g.48594977A>T						SLC12A1_uc001zwq.3_Silent_p.I836I|SLC12A1_uc001zwr.3_Silent_p.I792I	p.I1065I	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	27	3411	+		all_lung(180;0.00219)	1065			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	c.3195A>T	CCDS10129.2																																																																																				PASS	0.368	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			32	126	32	126	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49061206	49061206	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:49061206C>A	ENST00000380950.2	-	14	2042	c.1855G>T	c.(1855-1857)Gat>Tat	p.D619Y	CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Missense_Mutation_p.D619Y|CEP152_ENST00000325747.5_Missense_Mutation_p.D526Y	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	619					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.D619Y(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGAATATCATCTCTGACAACA	0.274																																						uc001zwy.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1855-1857)GAT>TAT		centrosomal protein 152kDa							82.0	79.0	80.0					15																	49061206		1787	4055	5842	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49061206C>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1855G>T	15.37:g.49061206C>A	ENSP00000370337:p.Asp619Tyr					CEP152_uc001zwz.2_Missense_Mutation_p.D619Y|CEP152_uc001zxa.1_Missense_Mutation_p.D526Y	p.D619Y	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	14	1889	-		all_lung(180;0.0428)	619			Potential.		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1855G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884458	0.51908	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.80304	-1.36;-1.36;-1.36	5.59	5.59	0.84812	.	0.388314	0.27420	N	0.019455	D	0.87063	0.6084	L	0.54323	1.7	0.34696	D	0.726221	D;D;D	0.89917	1.0;0.969;0.998	D;P;D	0.66847	0.939;0.789;0.947	D	0.90613	0.4553	10	0.87932	D	0	-5.2846	16.6768	0.85281	0.0:1.0:0.0:0.0	.	526;619;619	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	Y	619;526;619	ENSP00000370337:D619Y;ENSP00000321000:D526Y;ENSP00000382271:D619Y	ENSP00000321000:D526Y	D	-	1	0	CEP152	46848498	0.996000	0.38824	0.874000	0.34290	0.195000	0.23768	2.708000	0.47152	2.797000	0.96272	0.563000	0.77884	GAT		PASS	0.274	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		13	47	13	47	---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50866531	50866531	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:50866531C>G	ENST00000313478.7	-	36	5529	c.5248G>C	c.(5248-5250)Gcc>Ccc	p.A1750P	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.A1749P	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1750	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A1749P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGGCTAAAGGCTAGCATGATC	0.348																																						uc001zyt.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(5248-5250)GCC>CCC		transient receptor potential cation channel,							89.0	86.0	87.0					15																	50866531		1820	4082	5902	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50866531C>G	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.5248G>C	15.37:g.50866531C>G	ENSP00000320239:p.Ala1750Pro					TRPM7_uc001zyr.2_Missense_Mutation_p.A187P	p.A1750P	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	36	5512	-			1750			Cytoplasmic (Potential).|Alpha-type protein kinase.		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.5248G>C	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805874	0.90623	.	.	ENSG00000092439	ENST00000313478	T	0.20738	2.05	5.25	5.25	0.73442	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63743	-0.6568	10	0.87932	D	0	-8.193	19.0392	0.92991	0.0:1.0:0.0:0.0	.	1750	Q96QT4	TRPM7_HUMAN	P	1750	ENSP00000320239:A1750P	ENSP00000320239:A1750P	A	-	1	0	TRPM7	48653823	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.462000	0.80851	2.714000	0.92807	0.650000	0.86243	GCC		PASS	0.348	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		28	132	28	132	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52667601	52667601	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:52667601C>G	ENST00000399231.3	-	20	2720	c.2477G>C	c.(2476-2478)cGc>cCc	p.R826P	MYO5A_ENST00000399233.2_Missense_Mutation_p.R826P|MYO5A_ENST00000358212.6_Missense_Mutation_p.R826P|MYO5A_ENST00000553916.1_Missense_Mutation_p.R826P|MYO5A_ENST00000356338.6_Missense_Mutation_p.R826P	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	826	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R826P(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CACATACATGCGCCAGTACTT	0.443																																						uc002aby.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2476-2478)CGC>CCC		myosin VA isoform 1							111.0	103.0	106.0					15																	52667601		1924	4128	6052	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52667601C>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2477G>C	15.37:g.52667601C>G	ENSP00000382177:p.Arg826Pro					MYO5A_uc002abx.3_Missense_Mutation_p.R826P|MYO5A_uc010uge.1_Missense_Mutation_p.R695P	p.R826P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	20	2721	-			826			IQ 3.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2477G>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673169	0.88445	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.34	4.42	0.53409	.	0.057176	0.64402	D	0.000005	D	0.93242	0.7847	H	0.99565	4.63	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.989;0.999	D	0.95634	0.8692	10	0.87932	D	0	.	14.3303	0.66550	0.0:0.928:0.0:0.072	.	826;826	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	P	826;360;826;826;826;456;826	ENSP00000382177:R826P;ENSP00000382179:R826P;ENSP00000348693:R826P;ENSP00000350945:R826P;ENSP00000451109:R826P	ENSP00000348693:R826P	R	-	2	0	MYO5A	50454893	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.523000	0.60545	1.253000	0.44018	0.545000	0.68477	CGC		PASS	0.443	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		22	84	22	84	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53957876	53957876	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:53957876T>A	ENST00000396328.1	-	14	2094	c.1855A>T	c.(1855-1857)Att>Ttt	p.I619F	WDR72_ENST00000360509.5_Missense_Mutation_p.I619F|WDR72_ENST00000559418.1_Missense_Mutation_p.I629F|WDR72_ENST00000557913.1_Missense_Mutation_p.I616F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	619								p.I619F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTGAGGCAATGGGAAGTACA	0.458																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1855-1857)ATT>TTT		WD repeat domain 72							181.0	161.0	168.0					15																	53957876		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53957876T>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1855A>T	15.37:g.53957876T>A	ENSP00000379619:p.Ile619Phe					WDR72_uc010bfi.1_Missense_Mutation_p.I619F	p.I619F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	14	1897	-			619					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1855A>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	5.613	0.297912	0.10622	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35048	1.33;1.33	5.47	0.992	0.19819	.	1.093820	0.06886	N	0.803422	T	0.13927	0.0337	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30534	-0.9975	10	0.13853	T	0.58	.	3.233	0.06755	0.1205:0.5448:0.1177:0.2169	.	619	Q3MJ13	WDR72_HUMAN	F	619	ENSP00000379619:I619F;ENSP00000353699:I619F	ENSP00000353699:I619F	I	-	1	0	WDR72	51745168	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	-0.332000	0.07904	0.662000	0.31006	-0.177000	0.13119	ATT		PASS	0.458	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		42	123	42	123	---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59377922	59377922	+	Silent	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:59377922T>C	ENST00000557998.1	+	10	2775	c.2488T>C	c.(2488-2490)Ttg>Ctg	p.L830L	RNF111_ENST00000434298.1_Silent_p.L839L|RNF111_ENST00000559209.1_Silent_p.L839L|RNF111_ENST00000561186.1_Silent_p.L839L|RNF111_ENST00000348370.4_Silent_p.L830L	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	830					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L839L(1)|p.L830L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCATCCTCACTTGGCCCATTA	0.408																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2488-2490)TTG>CTG		ring finger protein 111							155.0	129.0	138.0					15																	59377922		2192	4291	6483	SO:0001819	synonymous_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59377922T>C	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2488T>C	15.37:g.59377922T>C						RNF111_uc002afs.2_Silent_p.L830L|RNF111_uc002aft.2_Silent_p.L839L|RNF111_uc002afu.2_Silent_p.L829L|RNF111_uc002afw.2_Silent_p.L839L|RNF111_uc002afx.2_Silent_p.L356L|RNF111_uc002afy.2_5'UTR	p.L830L	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	10	2767	+			830					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	c.2488T>C	CCDS58366.1																																																																																				PASS	0.408	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		39	119	39	119	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63952040	63952040	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:63952040G>C	ENST00000443617.2	-	47	9406	c.9319C>G	c.(9319-9321)Cgc>Ggc	p.R3107G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3107					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R3107G(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTACAATGCGCCGGTCATTT	0.468																																						uc002amp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(9319-9321)CGC>GGC		hect domain and RCC1-like domain 1							103.0	96.0	98.0					15																	63952040		1921	4130	6051	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63952040G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9319C>G	15.37:g.63952040G>C	ENSP00000390158:p.Arg3107Gly						p.R3107G	NM_003922	NP_003913	Q15751	HERC1_HUMAN			47	9467	-			3107					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.9319C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802787	0.50315	.	.	ENSG00000103657	ENST00000443617	T	0.26067	1.76	5.65	5.65	0.86999	.	0.067811	0.52532	D	0.000077	T	0.22437	0.0541	L	0.40543	1.245	0.49582	D	0.999802	P	0.39601	0.68	B	0.34779	0.189	T	0.02498	-1.1150	10	0.66056	D	0.02	.	14.5623	0.68148	0.0:0.0:0.8538:0.1461	.	3107	Q15751	HERC1_HUMAN	G	3107	ENSP00000390158:R3107G	ENSP00000390158:R3107G	R	-	1	0	HERC1	61739093	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.167000	0.50793	2.652000	0.90054	0.650000	0.86243	CGC		PASS	0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		17	78	17	78	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	66030127	66030127	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:66030127G>A	ENST00000431932.2	-	7	1166	c.958C>T	c.(958-960)Cct>Tct	p.P320S	DENND4A_ENST00000443035.3_Missense_Mutation_p.P320S	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	320	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P320S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCAAAAAAAGGCCAGTGAGAA	0.383																																						uc002aph.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(958-960)CCT>TCT		DENN/MADD domain containing 4A isoform 2							86.0	80.0	82.0					15																	66030127		1847	4098	5945	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66030127G>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.958C>T	15.37:g.66030127G>A	ENSP00000396830:p.Pro320Ser					DENND4A_uc002api.2_Missense_Mutation_p.P320S|DENND4A_uc002apj.3_Missense_Mutation_p.P320S|DENND4A_uc010ujj.1_Missense_Mutation_p.P320S	p.P320S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			7	1336	-			320			DENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.958C>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960029	0.92791	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.12879	2.64;2.64	5.43	5.43	0.79202	DENN (3);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.98;1.0;1.0	T	0.53041	-0.8494	10	0.87932	D	0	.	19.228	0.93825	0.0:0.0:1.0:0.0	.	320;320;320	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	S	320	ENSP00000391167:P320S;ENSP00000396830:P320S	ENSP00000396830:P320S	P	-	1	0	DENND4A	63817181	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.560000	0.86352	0.467000	0.42956	CCT		PASS	0.383	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		3	11	3	11	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78471983	78471983	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:78471983C>A	ENST00000258873.4	-	10	1598	c.1393G>T	c.(1393-1395)Ggt>Tgt	p.G465C	ACSBG1_ENST00000560817.1_Missense_Mutation_p.G223C|ACSBG1_ENST00000541759.1_Missense_Mutation_p.G223C	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	465					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.G465C(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATGTTGAGACCCAGGAAGAAG	0.572																																						uc002bdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1393-1395)GGT>TGT		lipidosin							80.0	72.0	75.0					15																	78471983		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78471983C>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1393G>T	15.37:g.78471983C>A	ENSP00000258873:p.Gly465Cys					ACSBG1_uc010umw.1_Missense_Mutation_p.G461C|ACSBG1_uc010umx.1_Missense_Mutation_p.G223C	p.G465C	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			10	1449	-			465					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1393G>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039674	0.75732	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.11169	2.8;2.8	5.05	5.05	0.67936	AMP-dependent synthetase/ligase (1);	0.061311	0.64402	D	0.000005	T	0.34366	0.0895	M	0.76002	2.32	0.54753	D	0.999986	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.984	T	0.09185	-1.0686	10	0.66056	D	0.02	-34.6779	17.4265	0.87527	0.0:1.0:0.0:0.0	.	461;465	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	C	465;223	ENSP00000258873:G465C;ENSP00000439955:G223C	ENSP00000258873:G465C	G	-	1	0	ACSBG1	76259038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.502000	0.45398	2.346000	0.79739	0.650000	0.86243	GGT		PASS	0.572	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		25	67	25	67	---	---	---	---
MORF4L1	10933	broad.mit.edu	37	15	79172853	79172853	+	Splice_Site	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:79172853G>A	ENST00000331268.5	+	3	291		c.e3-1		MORF4L1_ENST00000559345.1_Splice_Site|MORF4L1_ENST00000426013.2_Splice_Site|MORF4L1_ENST00000558746.1_Splice_Site|MORF4L1_ENST00000379535.4_Splice_Site|MORF4L1_ENST00000561171.1_Splice_Site|MORF4L1_ENST00000558502.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1						cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.?(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TTGAATTTCAGTGTGTAAAGG	0.289																																						uc002bel.2																			1	Unknown(1)		lung(1)		0						c.e3-1		MORF-related gene 15 isoform 2							43.0	43.0	43.0					15																	79172853		2191	4286	6477	SO:0001630	splice_region_variant	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79172853G>A	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.88-1G>A	15.37:g.79172853G>A						MORF4L1_uc010bli.1_Splice_Site_p.C30_splice|MORF4L1_uc010blj.1_Splice_Site_p.C30_splice|MORF4L1_uc002bem.2_Splice_Site_p.C30_splice|MORF4L1_uc010une.1_Splice_Site	p.C30_splice	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN			3	276	+								B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Splice_Site	SNP	ENST00000331268.5	37	c.88_splice	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007827	0.75046	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.488	0.87693	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MORF4L1	76959908	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.911000	0.92721	2.805000	0.96524	0.460000	0.39030	.		PASS	0.289	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791	Intron	13	45	13	45	---	---	---	---
KLHL25	64410	broad.mit.edu	37	15	86311564	86311564	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr15:86311564T>C	ENST00000337975.5	-	2	1752	c.1478A>G	c.(1477-1479)cAg>cGg	p.Q493R	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.Q493R	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	493					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.Q493R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GATGAAGATCTGGCTGCCCAG	0.617																																						uc002bly.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1477-1479)CAG>CGG		BTB/POZ KELCH domain protein							90.0	84.0	86.0					15																	86311564		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86311564T>C		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1478A>G	15.37:g.86311564T>C	ENSP00000336800:p.Gln493Arg						p.Q493R	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN			2	1681	-			493					B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.1478A>G	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.188536	0.57909	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.77098	-1.07;-1.07	5.71	5.71	0.89125	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	N	0.21617	0.685	0.58432	D	0.999992	B	0.18741	0.03	B	0.22152	0.038	T	0.61787	-0.6991	10	0.27082	T	0.32	.	15.1519	0.72706	0.0:0.0:0.0:1.0	.	493	Q9H0H3	ENC2_HUMAN	R	493;462;493	ENSP00000336800:Q493R;ENSP00000444739:Q493R	ENSP00000336800:Q493R	Q	-	2	0	KLHL25	84112568	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.035000	0.88872	2.180000	0.69256	0.379000	0.24179	CAG		PASS	0.617	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		33	90	33	90	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	822922	822922	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:822922C>A	ENST00000442466.1	-	10	1209	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Missense_Mutation_p.A755S			Q96KJ4	MSLNL_HUMAN	mesothelin-like	404					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.A755S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACGTCGGAGGCCAGCAGAGCC	0.687																																						uc002cjz.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(2263-2265)GCC>TCC		mesothelin-like							48.0	54.0	52.0					16																	822922		2070	4190	6260	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:822922C>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1210G>T	16.37:g.822922C>A	ENSP00000415767:p.Ala404Ser						p.A755S	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			11	2263	-			404			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442466.1	37	c.2263G>T		.	.	.	.	.	.	.	.	.	.	C	10.83	1.461147	0.26248	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11063	2.81;2.81;2.81	5.09	4.12	0.48240	.	0.309685	0.30177	N	0.010221	T	0.16257	0.0391	.	.	.	0.26662	N	0.971881	D	0.61697	0.99	P	0.57152	0.814	T	0.07158	-1.0787	9	0.26408	T	0.33	-23.8297	6.5547	0.22454	0.1807:0.727:0.0:0.0923	.	404	Q96KJ4	MSLNL_HUMAN	S	454;404;755	ENSP00000441381:A454S;ENSP00000415767:A404S;ENSP00000293892:A755S	ENSP00000293892:A755S	A	-	1	0	MSLNL	762923	0.160000	0.22878	0.917000	0.36280	0.124000	0.20399	0.486000	0.22340	1.121000	0.41925	0.549000	0.68633	GCC		PASS	0.687	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		17	34	17	34	---	---	---	---
CHTF18	63922	broad.mit.edu	37	16	841264	841264	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:841264G>T	ENST00000262315.9	+	8	1061	c.998G>T	c.(997-999)cGg>cTg	p.R333L	RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000455171.2_Missense_Mutation_p.R361L|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.R528L|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	333					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R333L(1)		endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GAGCCGGCCCGGGTCAGCAAG	0.657																																						uc002cke.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(997-999)CGG>CTG		CTF18, chromosome transmission fidelity factor							17.0	21.0	20.0					16																	841264		2045	4178	6223	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:841264G>T	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.998G>T	16.37:g.841264G>T	ENSP00000262315:p.Arg333Leu					RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.R361L|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	p.R333L	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN			8	1061	+		Hepatocellular(780;0.00335)	333					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.998G>T	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468532	0.26335	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.11169	2.8;2.83;2.82	4.85	3.89	0.44902	.	0.593369	0.17254	N	0.181052	T	0.10035	0.0246	M	0.64997	1.995	0.19775	N	0.999955	P;P	0.40266	0.71;0.526	B;B	0.34489	0.184;0.101	T	0.14309	-1.0477	10	0.07990	T	0.79	-7.8039	11.1907	0.48683	0.0914:0.0:0.9086:0.0	.	361;333	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	L	528;361;333	ENSP00000313029:R528L;ENSP00000406252:R361L;ENSP00000262315:R333L	ENSP00000262315:R333L	R	+	2	0	CHTF18	781265	0.856000	0.29760	0.008000	0.14137	0.381000	0.30169	2.331000	0.43894	1.178000	0.42870	-0.245000	0.11935	CGG		PASS	0.657	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		7	7	7	7	---	---	---	---
THUMPD1	55623	broad.mit.edu	37	16	20748507	20748507	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:20748507C>T	ENST00000381337.2	-	4	1101	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	THUMPD1_ENST00000431224.2_Missense_Mutation_p.V339M|THUMPD1_ENST00000396083.2_Missense_Mutation_p.V253M	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	253	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						poly(A) RNA binding (GO:0044822)	p.V253M(1)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TAATCTTTCACAACACTCAGG	0.418																																						uc002dho.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GTG>ATG		THUMP domain containing 1							127.0	113.0	118.0					16																	20748507		2201	4300	6501	SO:0001583	missense	55623							g.chr16:20748507C>T	BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.757G>A	16.37:g.20748507C>T	ENSP00000370741:p.Val253Met					THUMPD1_uc010vaz.1_Missense_Mutation_p.V106M|THUMPD1_uc002dhp.2_Missense_Mutation_p.V253M	p.V253M	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN			4	895	-			253			THUMP.		Q9BWC3	Missense_Mutation	SNP	ENST00000381337.2	37	c.757G>A	CCDS10588.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629785	0.87660	.	.	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.61392	0.15;0.11;0.15	5.82	4.83	0.62350	THUMP (3);	0.059498	0.64402	D	0.000003	T	0.78868	0.4351	M	0.89353	3.025	0.80722	D	1	D	0.65815	0.995	D	0.68039	0.955	D	0.83479	0.0063	10	0.72032	D	0.01	.	15.3137	0.74056	0.1684:0.8316:0.0:0.0	.	253	Q9NXG2	THUM1_HUMAN	M	253;339;253	ENSP00000370741:V253M;ENSP00000392282:V339M;ENSP00000379392:V253M	ENSP00000370741:V253M	V	-	1	0	THUMPD1	20656008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.651000	0.61447	1.298000	0.44778	0.491000	0.48974	GTG		PASS	0.418	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736		64	123	64	123	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20994170	20994170	+	Silent	SNP	G	G	T	rs138051514		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:20994170G>T	ENST00000261383.3	-	49	7731	c.7732C>A	c.(7732-7734)Cgg>Agg	p.R2578R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2578	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2578R(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGAACATCCGCAGGCGGTTC	0.498																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7732-7734)CGG>AGG		dynein, axonemal, heavy chain 3							104.0	100.0	101.0					16																	20994170		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20994170G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7732C>A	16.37:g.20994170G>T						DNAH3_uc010vbd.1_Silent_p.R13R	p.R2578R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	49	7732	-			2578			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.7732C>A	CCDS10594.1																																																																																				PASS	0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		40	100	40	100	---	---	---	---
ANKS4B	257629	broad.mit.edu	37	16	21261440	21261440	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:21261440C>T	ENST00000311620.5	+	2	626	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	185					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)		p.P185S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CAGATCATCCCCTTCAAATGC	0.473																																						uc010bwp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(553-555)CCT>TCT		harmonin-interacting ankyrin-repeat containing							99.0	99.0	99.0					16																	21261440		1962	4156	6118	SO:0001583	missense	257629							g.chr16:21261440C>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.553C>T	16.37:g.21261440C>T	ENSP00000308772:p.Pro185Ser					CRYM_uc010bwq.1_Intron	p.P185S	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	596	+			185						Missense_Mutation	SNP	ENST00000311620.5	37	c.553C>T	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	0.537	-0.855429	0.02630	.	.	ENSG00000175311	ENST00000311620	T	0.38887	1.11	5.77	-2.06	0.07298	.	0.808467	0.11134	N	0.596033	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	10	0.13108	T	0.6	1.4463	3.0852	0.06276	0.2231:0.4396:0.1165:0.2208	.	185	Q8N8V4	ANS4B_HUMAN	S	185	ENSP00000308772:P185S	ENSP00000308772:P185S	P	+	1	0	ANKS4B	21168941	0.000000	0.05858	0.001000	0.08648	0.142000	0.21351	-0.354000	0.07681	-0.642000	0.05480	-0.469000	0.05056	CCT		PASS	0.473	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		22	72	22	72	---	---	---	---
N4BP1	9683	broad.mit.edu	37	16	48594820	48594820	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:48594820C>G	ENST00000262384.3	-	2	1970	c.1734G>C	c.(1732-1734)agG>agC	p.R578S	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	578					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.R625S(1)|p.R578S(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTCCTGCCGACCTTGCATCAG	0.433																																						uc002efp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1732-1734)AGG>AGC		Nedd4 binding protein 1							127.0	123.0	124.0					16																	48594820		1910	4116	6026	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48594820C>G	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1734G>C	16.37:g.48594820C>G	ENSP00000262384:p.Arg578Ser						p.R578S	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	1971	-		all_cancers(37;0.179)|all_lung(18;0.11)	578					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1734G>C	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	6.311	0.425547	0.11987	.	.	ENSG00000102921	ENST00000262384	T	0.46451	0.87	5.94	2.5	0.30297	.	0.669254	0.14776	N	0.299076	T	0.31199	0.0789	L	0.32530	0.975	0.09310	N	1	B	0.23937	0.094	B	0.19666	0.026	T	0.18524	-1.0334	10	0.48119	T	0.1	-16.2385	9.9847	0.41835	0.0:0.7167:0.0:0.2833	.	578	O75113	N4BP1_HUMAN	S	578	ENSP00000262384:R578S	ENSP00000262384:R578S	R	-	3	2	N4BP1	47152321	0.000000	0.05858	0.001000	0.08648	0.159000	0.22180	0.137000	0.15995	0.227000	0.20999	0.591000	0.81541	AGG		PASS	0.433	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		51	179	51	179	---	---	---	---
RSPRY1	89970	broad.mit.edu	37	16	57261270	57261270	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:57261270G>A	ENST00000537866.1	+	11	2051	c.1178G>A	c.(1177-1179)gGg>gAg	p.G393E	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G393E|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	393	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.G393E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TACGGCATTGGGGATGATGAA	0.507																																						uc002elb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1177-1179)GGG>GAG		ring finger and SPRY domain containing 1							130.0	101.0	111.0					16																	57261270		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57261270G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1178G>A	16.37:g.57261270G>A	ENSP00000443176:p.Gly393Glu					RSPRY1_uc002elc.2_Missense_Mutation_p.G393E|RSPRY1_uc002eld.2_Missense_Mutation_p.G393E	p.G393E	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			11	1456	+			393			B30.2/SPRY.		Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.1178G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446669	0.96205	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.82344	-1.6;-1.6	6.16	6.16	0.99307	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	0.94879	0.8345	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95449	0.8532	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	393	Q96DX4	RSPRY_HUMAN	E	393	ENSP00000377942:G393E;ENSP00000443176:G393E	ENSP00000377942:G393E	G	+	2	0	RSPRY1	55818771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GGG		PASS	0.507	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		8	48	8	48	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57734153	57734153	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:57734153A>G	ENST00000360716.3	+	5	696	c.475A>G	c.(475-477)Atg>Gtg	p.M159V	CCDC135_ENST00000336825.8_Missense_Mutation_p.M159V|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.M159V			Q8IY82	CC135_HUMAN		159					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.M159V(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTTCCTCACCATGGTGCCCCT	0.587																																						uc002emi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(475-477)ATG>GTG		coiled-coil domain containing 135							90.0	81.0	84.0					16																	57734153		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57734153A>G																												ENST00000360716.3:c.475A>G	16.37:g.57734153A>G	ENSP00000353942:p.Met159Val					CCDC135_uc002emj.2_Missense_Mutation_p.M159V|CCDC135_uc002emk.2_Missense_Mutation_p.M159V	p.M159V	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			4	564	+			159					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.475A>G	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.163523	0.38217	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.76448	2.2;-1.02;2.2	5.25	3.0	0.34707	.	0.045983	0.85682	D	0.000000	T	0.68348	0.2991	L	0.41356	1.27	0.28910	N	0.89277	P;P	0.44195	0.649;0.828	B;B	0.41988	0.215;0.372	T	0.63060	-0.6721	10	0.48119	T	0.1	-25.1363	8.9982	0.36066	0.8485:0.0:0.1515:0.0	.	159;159	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	159	ENSP00000377869:M159V;ENSP00000338938:M159V;ENSP00000353942:M159V	ENSP00000338938:M159V	M	+	1	0	CCDC135	56291654	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.140000	0.50585	0.316000	0.23135	0.372000	0.22366	ATG		PASS	0.587	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			26	88	26	88	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61689508	61689508	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:61689508G>T	ENST00000577390.1	-	11	2726	c.1772C>A	c.(1771-1773)aCc>aAc	p.T591N	CDH8_ENST00000299345.6_Missense_Mutation_p.T591N|CDH8_ENST00000577730.1_Missense_Mutation_p.T591N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	591	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.T591N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATTGTCAAGGTGCTAGTGCT	0.468																																						uc002eog.1																			1	Substitution - Missense(1)	p.T591T(1)	lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1771-1773)ACC>AAC		cadherin 8, type 2 preproprotein							160.0	137.0	145.0					16																	61689508		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61689508G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1772C>A	16.37:g.61689508G>T	ENSP00000462701:p.Thr591Asn						p.T591N	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2024	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	591			Extracellular (Potential).|Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1772C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916066	0.92178	.	.	ENSG00000150394	ENST00000299345	T	0.55234	0.53	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82279	-0.0536	10	0.87932	D	0	.	18.4201	0.90587	0.0:0.0:1.0:0.0	.	591	P55286	CADH8_HUMAN	N	591	ENSP00000299345:T591N	ENSP00000299345:T591N	T	-	2	0	CDH8	60247009	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.414000	0.97362	2.599000	0.87857	0.561000	0.74099	ACC		PASS	0.468	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		34	139	34	139	---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68390608	68390608	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:68390608G>C	ENST00000339507.5	+	18	2646	c.1816G>C	c.(1816-1818)Ggg>Cgg	p.G606R	PRMT7_ENST00000348497.4_Missense_Mutation_p.G458R|PRMT7_ENST00000449359.3_Missense_Mutation_p.G556R|PRMT7_ENST00000441236.1_Missense_Mutation_p.G556R			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	606	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.G606R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGACAGGCCCGGGCAGAGCCA	0.647																																						uc002evy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1816-1818)GGG>CGG		protein arginine methyltransferase 7							27.0	28.0	28.0					16																	68390608		2196	4300	6496	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68390608G>C	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1816G>C	16.37:g.68390608G>C	ENSP00000343103:p.Gly606Arg					PRMT7_uc010vlg.1_Missense_Mutation_p.G556R|PRMT7_uc002evz.1_Missense_Mutation_p.G378R|PRMT7_uc010cfd.1_Missense_Mutation_p.G98R	p.G606R	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	18	2092	+		Ovarian(137;0.192)	606					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1816G>C	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.028622	0.75390	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.71871	2.18	0.41136	D	0.985925	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	0.988;1.0;0.919	T	0.57353	-0.7826	10	0.87932	D	0	-37.9861	15.8484	0.78907	0.0:0.0:1.0:0.0	.	556;458;606	Q9NVM4-3;Q9NVM4-2;Q9NVM4	.;.;ANM7_HUMAN	R	556;556;458;606	ENSP00000414716:G556R;ENSP00000409324:G556R;ENSP00000345775:G458R;ENSP00000343103:G606R	ENSP00000343103:G606R	G	+	1	0	PRMT7	66948109	1.000000	0.71417	0.973000	0.42090	0.049000	0.14656	7.621000	0.83083	2.822000	0.97130	0.556000	0.70494	GGG		PASS	0.647	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		8	21	8	21	---	---	---	---
TAT	6898	broad.mit.edu	37	16	71609830	71609830	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:71609830G>T	ENST00000355962.4	-	3	468	c.335C>A	c.(334-336)tCc>tAc	p.S112Y	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	112					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.S112Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CTTACCGATGGATGGGGCATA	0.488																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(334-336)TCC>TAC		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						137.0	137.0	137.0					16																	71609830		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71609830G>T		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.335C>A	16.37:g.71609830G>T	ENSP00000348234:p.Ser112Tyr					TAT_uc002faq.2_Missense_Mutation_p.S112Y|TAT_uc002far.2_3'UTR	p.S112Y	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	3	434	-		Ovarian(137;0.125)	112					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.335C>A	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466825	0.63625	.	.	ENSG00000198650	ENST00000355962	D	0.90324	-2.65	5.86	4.9	0.64082	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.195717	0.56097	D	0.000026	D	0.96300	0.8793	M	0.92268	3.29	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.987	D	0.97214	0.9873	10	0.87932	D	0	-13.6	15.3949	0.74784	0.0:0.2633:0.7367:0.0	.	112;112	A1L4G7;P17735	.;ATTY_HUMAN	Y	112	ENSP00000348234:S112Y	ENSP00000348234:S112Y	S	-	2	0	TAT	70167331	1.000000	0.71417	0.990000	0.47175	0.457000	0.32468	6.296000	0.72751	1.460000	0.47911	0.655000	0.94253	TCC		PASS	0.488	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			34	133	34	133	---	---	---	---
FBXO31	79791	broad.mit.edu	37	16	87393974	87393974	+	Splice_Site	SNP	T	T	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr16:87393974T>G	ENST00000311635.7	-	2	353		c.e2-2		RP11-178L8.9_ENST00000602779.1_RNA	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31						cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.?(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CACCATACTCTGTAACAAGAA	0.493																																						uc002fjw.2																			1	Unknown(1)		lung(1)	lung(1)	1						c.e2-1		F-box protein 31							94.0	85.0	88.0					16																	87393974		2198	4300	6498	SO:0001630	splice_region_variant	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87393974T>G	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.341-2A>C	16.37:g.87393974T>G						FBXO31_uc010vot.1_Splice_Site|FBXO31_uc002fjv.2_Silent_p.T5T	p.E114_splice	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	2	385	-								Q5K680|Q8WYV1|Q96D73|Q9UFV4	Splice_Site	SNP	ENST00000311635.7	37	c.341_splice	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538017	0.85917	.	.	ENSG00000103264	ENST00000311635	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXO31	85951475	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.500000	0.73687	2.147000	0.66899	0.533000	0.62120	.		PASS	0.493	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735	Intron	16	61	16	61	---	---	---	---
OR1A2	26189	broad.mit.edu	37	17	3101541	3101541	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:3101541C>G	ENST00000381951.1	+	1	729	c.729C>G	c.(727-729)caC>caG	p.H243Q		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	243					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H243Q(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GTGGCTCCCACCTCACAGTTG	0.438																																						uc002fvd.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(727-729)CAC>CAG		olfactory receptor, family 1, subfamily A,							117.0	114.0	115.0					17																	3101541		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101541C>G	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.729C>G	17.37:g.3101541C>G	ENSP00000371377:p.His243Gln						p.H243Q	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			1	729	+			243			Helical; Name=6; (Potential).		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.729C>G	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491404	0.26774	.	.	ENSG00000172150	ENST00000381951	T	0.00307	8.17	4.0	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000072	T	0.00815	0.0027	H	0.95745	3.715	0.26583	N	0.973334	D	0.89917	1.0	D	0.91635	0.999	T	0.26018	-1.0115	10	0.87932	D	0	.	5.8178	0.18506	0.0:0.6876:0.0:0.3124	.	243	Q9Y585	OR1A2_HUMAN	Q	243	ENSP00000371377:H243Q	ENSP00000371377:H243Q	H	+	3	2	OR1A2	3048291	1.000000	0.71417	0.999000	0.59377	0.237000	0.25408	0.948000	0.29096	1.038000	0.40049	-0.324000	0.08512	CAC		PASS	0.438	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		88	252	88	252	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:7577551C>A	ENST00000269305.4	-	7	919	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	TP53_ENST00000420246.2_Missense_Mutation_p.G244C|TP53_ENST00000445888.2_Missense_Mutation_p.G244C|TP53_ENST00000455263.2_Missense_Mutation_p.G244C|TP53_ENST00000413465.2_Missense_Mutation_p.G244C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G244C	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)	TTCATGCCGCCCATGCAGGAA	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		125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(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.(730-732)GGC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							147.0	111.0	123.0					17																	7577551		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.chr17:7577551C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>T	17.37:g.7577551C>A	ENSP00000269305:p.Gly244Cys	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.G244C|TP53_uc002gih.2_Missense_Mutation_p.G244C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112C|TP53_uc010cng.1_Missense_Mutation_p.G112C|TP53_uc002gii.1_Missense_Mutation_p.G112C|TP53_uc010cnh.1_Missense_Mutation_p.G244C|TP53_uc010cni.1_Missense_Mutation_p.G244C|TP53_uc002gij.2_Missense_Mutation_p.G244C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151C|TP53_uc002gio.2_Missense_Mutation_p.G112C	p.G244C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	924	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.730G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604756	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	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	0.99894	0.9949	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244C;ENSP00000352610:G244C;ENSP00000269305:G244C;ENSP00000398846:G244C;ENSP00000391127:G244C;ENSP00000391478:G244C;ENSP00000425104:G112C;ENSP00000423862:G151C	ENSP00000269305:G244C	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		PASS	0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	74	16	74	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7801302	7801302	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:7801302G>T	ENST00000330494.7	+	12	2083	c.1933G>T	c.(1933-1935)Ggg>Tgg	p.G645W	CHD3_ENST00000358181.4_Missense_Mutation_p.G645W|CHD3_ENST00000380358.4_Missense_Mutation_p.G704W	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	645	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G645W(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGATAAAAAGGGGAATTACCA	0.448																																						uc002gje.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1933-1935)GGG>TGG		chromodomain helicase DNA binding protein 3							147.0	144.0	145.0					17																	7801302		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7801302G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1933G>T	17.37:g.7801302G>T	ENSP00000332628:p.Gly645Trp					CHD3_uc002gjd.2_Missense_Mutation_p.G704W|CHD3_uc002gjf.2_Missense_Mutation_p.G645W|CHD3_uc002gjg.1_Missense_Mutation_p.G473W	p.G645W	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			12	2083	+		Prostate(122;0.202)	645			Chromo 2.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1933G>T	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.33|18.33	3.600638|3.600638	0.66332|0.66332	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|T;T;T	.|0.76060	.|-0.99;-0.99;-0.99	4.99|4.99	4.99|4.99	0.66335|0.66335	.|Chromo domain (1);Chromo domain/shadow (2);	0.000000|0.000000	0.47093|0.47093	D|D	0.000260|0.000260	D|D	0.89079|0.89079	0.6613|0.6613	M|M	0.90759|0.90759	3.145|3.145	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	0.90943|0.90943	0.4799|0.4799	6|10	.|0.87932	.|D	.|0	-29.9616|-29.9616	18.82|18.82	0.92092|0.92092	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|645;645;704	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	V|W	515|704;645;645	.|ENSP00000369716:G704W;ENSP00000350907:G645W;ENSP00000332628:G645W	.|ENSP00000332628:G645W	G|G	+|+	2|1	0|0	CHD3|CHD3	7742027|7742027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.494000|6.494000	0.73661|0.73661	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	GGG|GGG		PASS	0.448	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		60	197	60	197	---	---	---	---
NTN1	9423	broad.mit.edu	37	17	8926186	8926186	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:8926186G>T	ENST00000173229.2	+	2	603	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	NTN1_ENST00000546090.1_Missense_Mutation_p.D166Y|NTN1_ENST00000538852.1_Missense_Mutation_p.D166Y	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	166	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.D166Y(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAAGTCCATGGACTACGGGCG	0.622																																						uc002glw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)GAC>TAC		netrin 1 precursor							19.0	18.0	18.0					17																	8926186		2194	4288	6482	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:8926186G>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.496G>T	17.37:g.8926186G>T	ENSP00000173229:p.Asp166Tyr						p.D166Y	NM_004822	NP_004813	O95631	NET1_HUMAN			2	603	+			166			Laminin N-terminal.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.496G>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165219	0.78339	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	D;D;D	0.84442	-1.85;-1.85;-1.85	5.01	5.01	0.66863	Laminin, N-terminal (3);	0.049008	0.85682	D	0.000000	D	0.94863	0.8340	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96364	0.9268	10	0.72032	D	0.01	.	17.9289	0.88991	0.0:0.0:1.0:0.0	.	166	O95631	NET1_HUMAN	Y	166	ENSP00000173229:D166Y;ENSP00000443259:D166Y;ENSP00000441611:D166Y	ENSP00000173229:D166Y	D	+	1	0	NTN1	8866911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.769000	0.98969	2.320000	0.78422	0.650000	0.86243	GAC		PASS	0.622	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			3	26	3	26	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10446460	10446460	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:10446460G>T	ENST00000245503.5	-	9	1144	c.760C>A	c.(760-762)Cac>Aac	p.H254N	MYH2_ENST00000397183.2_Missense_Mutation_p.H254N|MYH2_ENST00000532183.2_Missense_Mutation_p.H254N|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	254	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.H254N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTGCCAAAGTGGATTCTGATG	0.294																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(760-762)CAC>AAC		myosin heavy chain IIa							72.0	83.0	79.0					17																	10446460		2202	4295	6497	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10446460G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.760C>A	17.37:g.10446460G>T	ENSP00000245503:p.His254Asn					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.H254N|MYH2_uc010coj.2_Missense_Mutation_p.H254N	p.H254N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			9	888	-			254			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.760C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576431	0.86645	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87029	-2.2;-2.2;-2.2	4.87	4.87	0.63330	Myosin head, motor domain (3);	0.000000	0.41097	U	0.000942	D	0.93148	0.7818	M	0.76433	2.335	0.58432	D	0.999999	D;P	0.59767	0.986;0.804	D;D	0.85130	0.997;0.951	D	0.93866	0.7158	10	0.87932	D	0	.	17.185	0.86863	0.0:0.0:1.0:0.0	.	254;254	Q567P6;Q9UKX2	.;MYH2_HUMAN	N	254	ENSP00000433944:H254N;ENSP00000245503:H254N;ENSP00000380367:H254N	ENSP00000245503:H254N	H	-	1	0	MYH2	10387185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.539000	0.85634	0.561000	0.74099	CAC		PASS	0.294	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		42	154	42	154	---	---	---	---
TEKT3	64518	broad.mit.edu	37	17	15234560	15234560	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:15234560G>T	ENST00000395930.1	-	3	529	c.343C>A	c.(343-345)Cat>Aat	p.H115N	TEKT3_ENST00000338696.2_Missense_Mutation_p.H115N	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	115					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.H115N(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCCGAATTATGTCGGGAAGTG	0.418																																						uc002gon.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(343-345)CAT>AAT		tektin 3							242.0	222.0	229.0					17																	15234560		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234560G>T	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.343C>A	17.37:g.15234560G>T	ENSP00000379263:p.His115Asn						p.H115N	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	530	-			115					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.343C>A	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615445	0.28801	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316	T;T;T;T	0.29142	4.41;4.41;4.41;1.58	5.61	4.65	0.58169	.	0.222809	0.53938	D	0.000042	T	0.16257	0.0391	N	0.11427	0.14	0.41139	D	0.985946	B	0.02656	0.0	B	0.06405	0.002	T	0.06516	-1.0822	10	0.09084	T	0.74	16.0101	14.6901	0.69080	0.0697:0.0:0.9303:0.0	.	115	Q9BXF9	TEKT3_HUMAN	N	115	ENSP00000379263:H115N;ENSP00000343995:H115N;ENSP00000446111:H115N;ENSP00000439713:H115N	ENSP00000343995:H115N	H	-	1	0	TEKT3	15175285	1.000000	0.71417	0.292000	0.24919	0.825000	0.46686	4.713000	0.61895	1.518000	0.48934	0.655000	0.94253	CAT		PASS	0.418	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		69	283	69	283	---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41955348	41955348	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:41955348C>T	ENST00000461854.1	-	14	1643	c.1558G>A	c.(1558-1560)Gcg>Acg	p.A520T	MPP2_ENST00000377184.3_Missense_Mutation_p.A513T|MPP2_ENST00000536246.1_Missense_Mutation_p.A485T|MPP2_ENST00000518766.1_Missense_Mutation_p.A541T|MPP2_ENST00000269095.4_Missense_Mutation_p.A496T|MPP2_ENST00000520305.1_Missense_Mutation_p.A357T|MPP2_ENST00000523501.1_Missense_Mutation_p.A485T			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	520	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.A496T(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTCAGGTCCGCCTCCTGCCCA	0.627																																						uc010wip.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1621-1623)GCG>ACG		palmitoylated membrane protein 2							48.0	38.0	42.0					17																	41955348		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41955348C>T		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1558G>A	17.37:g.41955348C>T	ENSP00000428286:p.Ala520Thr					MPP2_uc002ien.1_Missense_Mutation_p.A513T|MPP2_uc010wim.1_Missense_Mutation_p.A485T|MPP2_uc002ieo.1_Missense_Mutation_p.A496T|MPP2_uc010win.1_Missense_Mutation_p.A357T|MPP2_uc010wio.1_Missense_Mutation_p.A485T	p.A541T	NM_005374	NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	13	1678	-		Breast(137;0.00314)	520			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1621G>A		.	.	.	.	.	.	.	.	.	.	c	10.20	1.286038	0.23478	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.87	3.9	0.45041	.	.	.	.	.	T	0.30417	0.0764	N	0.25647	0.755	0.44162	D	0.99696	B;B	0.19583	0.037;0.013	B;B	0.21360	0.034;0.02	T	0.08166	-1.0735	9	0.49607	T	0.09	.	10.8587	0.46815	0.0:0.9074:0.0:0.0926	.	541;513	E7EV80;Q14168-3	.;.	T	513;496;520;357;485;485;541	ENSP00000366389:A513T;ENSP00000269095:A496T;ENSP00000428286:A520T;ENSP00000428136:A357T;ENSP00000430540:A485T;ENSP00000438012:A485T;ENSP00000428182:A541T	ENSP00000269095:A496T	A	-	1	0	MPP2	39310874	0.909000	0.30893	0.999000	0.59377	0.924000	0.55760	0.607000	0.24209	1.066000	0.40716	0.555000	0.69702	GCG		PASS	0.627	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		19	43	19	43	---	---	---	---
SNX11	29916	broad.mit.edu	37	17	46196335	46196335	+	Splice_Site	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:46196335G>T	ENST00000393405.2	+	7	680		c.e7-1		SNX11_ENST00000359238.2_Splice_Site|SNX11_ENST00000580219.1_Splice_Site|SNX11_ENST00000582104.1_Splice_Site|SNX11_ENST00000578861.1_Splice_Site|SNX11_ENST00000452859.2_Splice_Site|SNX11_ENST00000439357.2_Splice_Site	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11						intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)	p.?(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GTTTTTCCCAGGGTCCTGCAG	0.552																																						uc002inf.1																			1	Unknown(1)		lung(1)		0						c.e7-1		sorting nexin 11							144.0	121.0	128.0					17																	46196335		2203	4300	6503	SO:0001630	splice_region_variant	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46196335G>T	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.327-1G>T	17.37:g.46196335G>T						SNX11_uc010wlg.1_Splice_Site_p.K101_splice|SNX11_uc010wlh.1_Splice_Site_p.K101_splice|SNX11_uc010wli.1_Splice_Site_p.K48_splice|SNX11_uc010wlj.1_Splice_Site|SNX11_uc002ing.1_Splice_Site_p.K109_splice|SNX11_uc002inh.1_Splice_Site_p.K109_splice	p.K109_splice	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN			7	681	+								B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Splice_Site	SNP	ENST00000393405.2	37	c.327_splice	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091847	0.76756	.	.	ENSG00000002919	ENST00000393405;ENST00000439357;ENST00000359238	.	.	.	5.64	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9621	0.71164	0.0:0.0:0.856:0.144	.	.	.	.	.	-1	.	.	.	+	.	.	SNX11	43551334	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	9.101000	0.94219	1.381000	0.46364	0.655000	0.94253	.		PASS	0.552	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1		Intron	48	149	48	149	---	---	---	---
CALCOCO2	10241	broad.mit.edu	37	17	46925692	46925692	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:46925692C>T	ENST00000258947.3	+	4	393	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	CALCOCO2_ENST00000509507.1_Silent_p.L119L|CALCOCO2_ENST00000416445.2_Silent_p.L98L|CALCOCO2_ENST00000508679.1_Silent_p.L26L|CALCOCO2_ENST00000448105.2_Silent_p.L122L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	98					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)	p.L98L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGCTTACTACCTGCCCAAGGA	0.398																																						uc002iof.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(292-294)CTG>TTG		calcium binding and coiled-coil domain 2							144.0	121.0	129.0					17																	46925692		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46925692C>T	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.292C>T	17.37:g.46925692C>T						CALCOCO2_uc010wlp.1_Silent_p.L119L|CALCOCO2_uc010wlq.1_Silent_p.L26L|CALCOCO2_uc010wlr.1_Silent_p.L122L|CALCOCO2_uc010wls.1_Silent_p.L98L	p.L98L	NM_005831	NP_005822	Q13137	CACO2_HUMAN			4	371	+			98					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.292C>T	CCDS11538.1																																																																																				PASS	0.398	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		32	78	32	78	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48262882	48262882	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:48262882C>A	ENST00000225964.5	-	51	4494	c.4376G>T	c.(4375-4377)gGc>gTc	p.G1459V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1459	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1459V(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCAGACAGGGCCAACGTCGAA	0.572			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(4375-4377)GGC>GTC		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						98.0	89.0	92.0					17																	48262882		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48262882C>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4376G>T	17.37:g.48262882C>A	ENSP00000225964:p.Gly1459Val						p.G1459V	NM_000088	NP_000079	P02452	CO1A1_HUMAN			51	4502	-			1459			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.4376G>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423921	0.43020	.	.	ENSG00000108821	ENST00000225964	D	0.90069	-2.61	4.46	3.47	0.39725	Fibrillar collagen, C-terminal (4);	0.000000	0.64402	U	0.000001	D	0.95462	0.8526	H	0.99286	4.5	0.80722	D	1	P	0.46142	0.873	P	0.50590	0.645	D	0.96435	0.9322	10	0.87932	D	0	.	13.3892	0.60813	0.0:0.8403:0.1597:0.0	.	1459	P02452	CO1A1_HUMAN	V	1459	ENSP00000225964:G1459V	ENSP00000225964:G1459V	G	-	2	0	COL1A1	45617881	1.000000	0.71417	0.833000	0.33012	0.954000	0.61252	4.759000	0.62227	1.071000	0.40834	0.491000	0.48974	GGC		PASS	0.572	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			31	122	31	122	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61908449	61908449	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:61908449A>G	ENST00000310144.6	+	8	1041	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_Missense_Mutation_p.I237V|PSMC5_ENST00000581882.1_Missense_Mutation_p.I237V|PSMC5_ENST00000580864.1_Missense_Mutation_p.I237V	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	245	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.I245V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGCTCCATCTATCATCTTCAT	0.557																																						uc002jcb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(733-735)ATC>GTC		proteasome 26S ATPase subunit 5							92.0	89.0	90.0					17																	61908449		2203	4300	6503	SO:0001583	missense	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908449A>G	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.733A>G	17.37:g.61908449A>G	ENSP00000310572:p.Ile245Val					PSMC5_uc010ddy.2_Missense_Mutation_p.I222V|PSMC5_uc010ddz.2_Missense_Mutation_p.I166V|PSMC5_uc002jcc.2_Missense_Mutation_p.I237V|PSMC5_uc002jcd.2_Missense_Mutation_p.I237V	p.I245V	NM_002805	NP_002796	P62195	PRS8_HUMAN			8	774	+			245					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.733A>G	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161822	0.78226	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.92805	-3.11;-3.11	5.64	5.64	0.86602	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	L	0.33137	0.985	0.80722	D	1	P;P	0.52692	0.81;0.955	P;P	0.56278	0.694;0.795	D	0.92343	0.5883	10	0.56958	D	0.05	.	13.8576	0.63537	1.0:0.0:0.0:0.0	.	237;245	A8K3Z3;P62195	.;PRS8_HUMAN	V	245;237	ENSP00000310572:I245V;ENSP00000364970:I237V	ENSP00000310572:I245V	I	+	1	0	PSMC5	59262181	1.000000	0.71417	0.955000	0.39395	0.805000	0.45488	9.078000	0.94023	2.367000	0.80283	0.528000	0.53228	ATC		PASS	0.557	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		45	123	45	123	---	---	---	---
GPRC5C	55890	broad.mit.edu	37	17	72443133	72443133	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:72443133C>G	ENST00000392627.1	+	4	2553	c.1427C>G	c.(1426-1428)tCt>tGt	p.S476C	GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S116C|GPRC5C_ENST00000392629.2_Missense_Mutation_p.S443C|GPRC5C_ENST00000582873.1_3'UTR	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	431					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)	p.S443C(1)|p.S476C(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GGCAAGAACTCTCAGGTCTTT	0.652																																						uc002jks.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						c.(1291-1293)TCT>TGT		G protein-coupled receptor family C, group 5,							76.0	84.0	81.0					17																	72443133		2203	4300	6503	SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72443133C>G	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1427C>G	17.37:g.72443133C>G	ENSP00000376403:p.Ser476Cys					GPRC5C_uc002jkp.2_Missense_Mutation_p.S476C|GPRC5C_uc002jkq.2_3'UTR|GPRC5C_uc002jkr.2_Missense_Mutation_p.S443C|GPRC5C_uc002jkt.2_Missense_Mutation_p.S431C|GPRC5C_uc002jku.2_Missense_Mutation_p.S186C	p.S431C	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN			3	1331	+			431			Cytoplasmic (Potential).		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1292C>G	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.006062	0.35415	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.20069	2.1	5.72	3.72	0.42706	.	0.242885	0.36444	N	0.002597	T	0.33206	0.0855	L	0.40543	1.245	0.19575	N	0.999966	D;P;P;D	0.89917	1.0;0.938;0.938;0.963	D;P;B;P	0.73380	0.98;0.541;0.436;0.639	T	0.05666	-1.0871	10	0.87932	D	0	-22.387	9.1033	0.36683	0.0:0.7754:0.1465:0.0782	.	142;431;431;443	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	C	431;476;142;443;431	ENSP00000376405:S443C	ENSP00000262616:S142C	S	+	2	0	GPRC5C	69954728	0.070000	0.21116	0.704000	0.30370	0.054000	0.15201	0.866000	0.27954	0.771000	0.33359	-0.175000	0.13238	TCT		PASS	0.652	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			41	108	41	108	---	---	---	---
CD300LF	146722	broad.mit.edu	37	17	72700780	72700780	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr17:72700780C>T	ENST00000326165.6	-	2	330	c.219G>A	c.(217-219)caG>caA	p.Q73Q	CD300LF_ENST00000361254.4_Silent_p.Q76Q|CD300LF_ENST00000301573.9_Silent_p.Q73Q|CD300LF_ENST00000469092.1_Silent_p.Q76Q|CD300LF_ENST00000581500.1_Silent_p.Q76Q|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Silent_p.Q76Q|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000583937.1_Silent_p.Q73Q|CD300LF_ENST00000343125.4_Silent_p.Q76Q	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	73	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q73Q(2)		endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTTCACCTCCTGCTCTGACC	0.498																																						uc002jlg.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(217-219)CAG>CAA		NK inhibitory receptor precursor							260.0	235.0	244.0					17																	72700780		2203	4300	6503	SO:0001819	synonymous_variant	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72700780C>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.219G>A	17.37:g.72700780C>T						RAB37_uc002jlc.2_Intron|RAB37_uc010dfu.2_Intron|RAB37_uc002jld.2_Intron|CD300LF_uc002jlf.2_Silent_p.Q76Q|CD300LF_uc010dfw.2_RNA|CD300LF_uc002jlh.2_Silent_p.Q73Q|CD300LF_uc002jli.2_Silent_p.Q76Q|CD300LF_uc010wra.1_Silent_p.Q73Q|CD300LF_uc002jlj.1_Silent_p.Q76Q	p.Q73Q	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN			2	322	-			73			Ig-like V-type.|Extracellular (Potential).		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Silent	SNP	ENST00000326165.6	37	c.219G>A	CCDS11704.1																																																																																				PASS	0.498	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		86	290	86	290	---	---	---	---
TMEM200C	645369	broad.mit.edu	37	18	5891956	5891956	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:5891956T>C	ENST00000581347.2	-	3	752	c.107A>G	c.(106-108)aAg>aGg	p.K36R	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.K36R|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	36						integral component of membrane (GO:0016021)		p.K36R(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CACGTCGTTCTTGCGCCTCTT	0.612																																						uc002kmx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(106-108)AAG>AGG		transmembrane protein 200C							95.0	103.0	100.0					18																	5891956		2165	4266	6431	SO:0001583	missense	645369					integral to membrane		g.chr18:5891956T>C		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.107A>G	18.37:g.5891956T>C	ENSP00000463375:p.Lys36Arg						p.K36R	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	148	-			36						Missense_Mutation	SNP	ENST00000581347.2	37	c.107A>G	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563007	0.45694	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	L	0.27053	0.805	0.45330	D	0.99832	D	0.67145	0.996	D	0.66602	0.945	T	0.52682	-0.8543	9	0.06494	T	0.89	-17.0651	14.7089	0.69211	0.0:0.0:0.0:1.0	.	36	A6NKL6	T200C_HUMAN	R	36	.	ENSP00000372982:K36R	K	-	2	0	TMEM200C	5881956	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.029000	0.64121	1.926000	0.55796	0.455000	0.32223	AAG		PASS	0.612	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		16	42	16	42	---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	5956349	5956349	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:5956349G>C	ENST00000284898.6	-	20	1942	c.1742C>G	c.(1741-1743)aCg>aGg	p.T581R	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.T385R|RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.T572R|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.T581R	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	581	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T581R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GACAATGTCCGTCTGTGTCAG	0.438																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(1741-1743)ACG>AGG		l(3)mbt-like 4							210.0	197.0	201.0					18																	5956349		1924	4133	6057	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5956349G>C	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1742C>G	18.37:g.5956349G>C	ENSP00000284898:p.Thr581Arg					L3MBTL4_uc010dkt.2_Missense_Mutation_p.T581R|L3MBTL4_uc002kmy.3_Missense_Mutation_p.T410R	p.T581R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			20	1902	-		Colorectal(10;0.0249)	581			SAM.		A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1742C>G	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031392	0.35797	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.74	3.02	0.34903	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.238657	0.34435	N	0.003971	T	0.37073	0.0990	L	0.42245	1.32	0.09310	N	0.999992	B;B	0.20988	0.05;0.04	B;B	0.22880	0.042;0.041	T	0.21793	-1.0235	10	0.30078	T	0.28	.	9.2968	0.37819	0.2344:0.0:0.7656:0.0	.	581;572	Q8NA19;F8W9S8	LMBL4_HUMAN;.	R	581;572;581;385	ENSP00000382976:T581R;ENSP00000318543:T572R;ENSP00000284898:T581R;ENSP00000444774:T385R	ENSP00000284898:T581R	T	-	2	0	L3MBTL4	5946349	0.001000	0.12720	0.071000	0.20095	0.932000	0.56968	0.554000	0.23407	0.377000	0.24735	-0.122000	0.15005	ACG		PASS	0.438	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		66	310	66	310	---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	6243368	6243369	+	Nonsense_Mutation	DNP	TC	TC	AT			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:6243368_6243369TC>AT	ENST00000284898.6	-	7	584_585	c.384_385GA>AT	c.(382-387)tgGAcc>tgATcc	p.128_129WT>*S	L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.128_129WT>*S|L3MBTL4_ENST00000535782.1_5'Flank|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.128_129WT>*S|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.128_129WT>*S	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	128					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W128_T129>*(1)|p.T129S(1)|p.W128*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCAGCATTGGTCCAAAAATCAT	0.391																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - deletion inframe(1)		lung(3)	skin(2)|pancreas(1)	3						c.(385-387)ACC>TCC|c.(382-384)TGG>TGA		l(3)mbt-like 4																																				SO:0001587	stop_gained	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6243368T>A|g.chr18:6243369C>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.384_385delinsAT	18.37:g.6243368_6243369delinsAT	ENSP00000284898:p.W128_T129delins*S					L3MBTL4_uc010dkt.2_Missense_Mutation_p.T129S|L3MBTL4_uc002kmy.3_5'Flank|L3MBTL4_uc010dkt.2_Nonsense_Mutation_p.W128*|L3MBTL4_uc002kmy.3_5'Flank	p.T129S|p.W128*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			7	545|544	-		Colorectal(10;0.0249)	129|128			MBT 1.		A8MTL8|Q8IXS3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000284898.6	37	c.385A>T|c.384G>A	CCDS11839.2																																																																																				PASS	0.391	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		30	142	30	142	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6986250	6986250	+	Silent	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:6986250T>A	ENST00000389658.3	-	37	5358	c.5265A>T	c.(5263-5265)tcA>tcT	p.S1755S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1755	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.S1755S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTTGTGCTTTGAAAGGACGT	0.478																																						uc002knm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(5263-5265)TCA>TCT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						162.0	139.0	147.0					18																	6986250		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6986250T>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5265A>T	18.37:g.6986250T>A						LAMA1_uc010wzj.1_Silent_p.S1231S	p.S1755S	NM_005559	NP_005550	P25391	LAMA1_HUMAN			37	5359	-		Colorectal(10;0.172)	1755			Domain II and I.|Potential.			Silent	SNP	ENST00000389658.3	37	c.5265A>T	CCDS32787.1																																																																																				PASS	0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		56	221	56	221	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8069965	8069965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:8069965G>T	ENST00000332175.8	+	8	2451	c.1414G>T	c.(1414-1416)Gaa>Taa	p.E472*	PTPRM_ENST00000580170.1_Nonsense_Mutation_p.E472*|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.E410*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.E259*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.E472*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	472	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E472*(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGAAAGCCAAGAACTCATAGT	0.418																																						uc002knn.3																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1414-1416)GAA>TAA		protein tyrosine phosphatase, receptor type, M							92.0	73.0	80.0					18																	8069965		2203	4300	6503	SO:0001587	stop_gained	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8069965G>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1414G>T	18.37:g.8069965G>T	ENSP00000331418:p.Glu472*					PTPRM_uc010dkv.2_Nonsense_Mutation_p.E472*|PTPRM_uc010wzl.1_Nonsense_Mutation_p.E259*	p.E472*	NM_002845	NP_002836	P28827	PTPRM_HUMAN			8	1917	+		Colorectal(10;0.234)	472			Fibronectin type-III 2.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Nonsense_Mutation	SNP	ENST00000332175.8	37	c.1414G>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	47	13.201626	0.99727	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.52	5.52	0.82312	.	0.051670	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.4558	0.94889	0.0:0.0:1.0:0.0	.	.	.	.	X	472;472;410;259	.	ENSP00000331418:E472X	E	+	1	0	PTPRM	8059965	1.000000	0.71417	0.719000	0.30619	0.989000	0.77384	9.380000	0.97202	2.611000	0.88343	0.655000	0.94253	GAA		PASS	0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			9	40	9	40	---	---	---	---
AFG3L2	10939	broad.mit.edu	37	18	12344181	12344181	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:12344181C>A	ENST00000269143.3	-	14	1960	c.1729G>T	c.(1729-1731)Ggc>Tgc	p.G577C		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	577					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.G577C(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACCGCATGGCCTGCTTCGTGG	0.522																																						uc002kqz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1729-1731)GGC>TGC		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						109.0	95.0	99.0					18																	12344181		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12344181C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1729G>T	18.37:g.12344181C>A	ENSP00000269143:p.Gly577Cys						p.G577C	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			14	1842	-			577					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1729G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676435	0.88445	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.96587	-4.06	4.61	4.61	0.57282	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98657	1.0682	10	0.87932	D	0	-0.3136	17.6237	0.88089	0.0:1.0:0.0:0.0	.	577	Q9Y4W6	AFG32_HUMAN	C	577;592	ENSP00000269143:G577C	ENSP00000269143:G577C	G	-	1	0	AFG3L2	12334181	1.000000	0.71417	0.909000	0.35828	0.985000	0.73830	7.550000	0.82173	2.392000	0.81423	0.563000	0.77884	GGC		PASS	0.522	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		36	119	36	119	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13104996	13104996	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:13104996G>C	ENST00000325971.8	+	38	6770	c.5177G>C	c.(5176-5178)aGt>aCt	p.S1726T	CEP192_ENST00000430049.2_Missense_Mutation_p.S1847T|CEP192_ENST00000506447.1_Missense_Mutation_p.S2322T|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1726					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S2322T(1)|p.S1726T(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTTGATGAAAGTGGAGATGTT	0.388																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6964-6966)AGT>ACT		centrosomal protein 192kDa							228.0	213.0	218.0					18																	13104996		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13104996G>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5177G>C	18.37:g.13104996G>C	ENSP00000317156:p.Ser1726Thr					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1847T|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S744T|CEP192_uc002krw.2_Missense_Mutation_p.S471T|CEP192_uc002krx.2_Missense_Mutation_p.S326T|CEP192_uc002kry.2_RNA	p.S2322T	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			40	7045	+			2322					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6965G>C		.	.	.	.	.	.	.	.	.	.	G	10.09	1.255187	0.22965	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06294	3.33;3.32;3.33	5.18	4.29	0.51040	.	0.216362	0.46758	N	0.000273	T	0.04861	0.0131	N	0.25825	0.765	0.33561	D	0.597381	B;B;B;B	0.31705	0.336;0.124;0.065;0.15	B;B;B;B	0.24974	0.048;0.057;0.041;0.028	T	0.31971	-0.9924	10	0.20046	T	0.44	-15.0121	13.1662	0.59573	0.0:0.3175:0.6825:0.0	.	1847;2322;326;924	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	T	2322;1726;1726;1847;326	ENSP00000427550:S2322T;ENSP00000317156:S1726T;ENSP00000389190:S1847T	ENSP00000317156:S1726T	S	+	2	0	CEP192	13094996	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.804000	0.47931	1.139000	0.42245	0.446000	0.29264	AGT		PASS	0.388	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		36	175	36	175	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22804449	22804449	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:22804449C>A	ENST00000361524.3	-	4	3581	c.3433G>T	c.(3433-3435)Gtt>Ttt	p.V1145F	ZNF521_ENST00000538137.2_Missense_Mutation_p.V1145F|ZNF521_ENST00000584787.1_Missense_Mutation_p.V925F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1145					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.V1145F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCAAACTTAACGTTGCAGCTA	0.532			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(3433-3435)GTT>TTT		zinc finger protein 521							169.0	147.0	154.0					18																	22804449		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804449C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3433G>T	18.37:g.22804449C>A	ENSP00000354794:p.Val1145Phe					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.V1145F|ZNF521_uc002kvl.2_Missense_Mutation_p.V925F	p.V1145F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	3680	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1145			C2H2-type 26.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3433G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.125884	0.37533	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.15834	2.93;2.39	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	L	0.58101	1.795	0.51233	D	0.999915	D	0.89917	1.0	D	0.81914	0.995	T	0.01259	-1.1403	10	0.40728	T	0.16	-22.1289	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1145	Q96K83	ZN521_HUMAN	F	1145;1179;1145	ENSP00000354794:V1145F;ENSP00000382352:V1145F	ENSP00000354794:V1145F	V	-	1	0	ZNF521	21058447	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.482000	0.81143	2.835000	0.97688	0.650000	0.86243	GTT		PASS	0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		29	92	29	92	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30350379	30350379	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:30350379C>G	ENST00000359358.4	-	2	614	c.176G>C	c.(175-177)cGa>cCa	p.R59P	KLHL14_ENST00000358095.4_Missense_Mutation_p.R59P|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	59	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R59P(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAAGAGCGATCGGAAGTACTG	0.697																																						uc002kxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)CGA>CCA		kelch-like 14							32.0	30.0	31.0					18																	30350379		2202	4295	6497	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350379C>G	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.176G>C	18.37:g.30350379C>G	ENSP00000352314:p.Arg59Pro						p.R59P	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	564	-			59			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.176G>C	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	9.868	1.198174	0.22037	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.70045	-0.45;-0.45	4.14	3.24	0.37175	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.235070	0.32970	N	0.005435	T	0.65502	0.2697	M	0.72118	2.19	0.48571	D	0.999679	B	0.31227	0.314	B	0.33620	0.167	T	0.64795	-0.6323	10	0.40728	T	0.16	.	12.809	0.57629	0.0:0.8342:0.1658:0.0	.	59	Q9P2G3	KLH14_HUMAN	P	59	ENSP00000352314:R59P;ENSP00000350808:R59P	ENSP00000350808:R59P	R	-	2	0	KLHL14	28604377	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.678000	0.68153	0.906000	0.36621	0.460000	0.39030	CGA		PASS	0.697	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			11	33	11	33	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46287933	46287933	+	Missense_Mutation	SNP	G	G	C	rs367568700		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:46287933G>C	ENST00000256413.3	+	9	1539	c.1244G>C	c.(1243-1245)cGc>cCc	p.R415P	CTIF_ENST00000382998.4_Missense_Mutation_p.R417P	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	415	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.R415P(1)|p.R415L(1)|p.R367P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GAGATCGTGCGCACAATCTAC	0.592																																						uc002ldc.2																			3	Substitution - Missense(3)		lung(2)|upper_aerodigestive_tract(1)		0						c.(1243-1245)CGC>CCC		hypothetical protein LOC9811 isoform 1							152.0	102.0	119.0					18																	46287933		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46287933G>C	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1244G>C	18.37:g.46287933G>C	ENSP00000256413:p.Arg415Pro					KIAA0427_uc002ldd.2_Missense_Mutation_p.R417P|KIAA0427_uc002lde.3_Missense_Mutation_p.R44P	p.R415P	NM_014772	NP_055587	O43310	CTIF_HUMAN			9	1529	+			415			MIF4G.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1244G>C	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889679	0.72524	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.23950	1.88;1.88	5.75	4.88	0.63580	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.327936	0.34046	N	0.004319	T	0.23965	0.0580	L	0.38175	1.15	0.36707	D	0.880455	P;P	0.42456	0.74;0.78	B;P	0.46917	0.396;0.531	T	0.09164	-1.0687	10	0.51188	T	0.08	-17.1063	5.8412	0.18635	0.258:0.0:0.742:0.0	.	417;415	O43310-2;O43310	.;CTIF_HUMAN	P	415;417;367	ENSP00000256413:R415P;ENSP00000372459:R417P	ENSP00000256413:R415P	R	+	2	0	CTIF	44541931	0.980000	0.34600	0.997000	0.53966	0.993000	0.82548	3.271000	0.51608	2.716000	0.92895	0.655000	0.94253	CGC		PASS	0.592	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		25	78	25	78	---	---	---	---
LIPG	9388	broad.mit.edu	37	18	47088747	47088747	+	Silent	SNP	A	A	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:47088747A>C	ENST00000261292.4	+	1	347	c.69A>C	c.(67-69)gtA>gtC	p.V23V	LIPG_ENST00000577628.1_Intron|LIPG_ENST00000427224.2_Silent_p.V23V|LIPG_ENST00000580036.1_Silent_p.V23V	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	23					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.V23V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GGAGCCCCGTACCTTTTGGTC	0.562																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(67-69)GTA>GTC		endothelial lipase precursor							80.0	80.0	80.0					18																	47088747		2203	4300	6503	SO:0001819	synonymous_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47088747A>C	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.69A>C	18.37:g.47088747A>C						LIPG_uc002ldu.1_Silent_p.V23V|LIPG_uc010xdh.1_Silent_p.V23V	p.V23V	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			1	321	+			23					B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	c.69A>C	CCDS11938.1																																																																																				PASS	0.562	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		18	66	18	66	---	---	---	---
MAPK4	5596	broad.mit.edu	37	18	48255612	48255612	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:48255612G>T	ENST00000400384.2	+	6	2188	c.1152G>T	c.(1150-1152)gcG>gcT	p.A384A	MAPK4_ENST00000540640.1_Silent_p.A173A|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	384					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.A384A(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ACCCGCGCGCGGGTTCGGCGC	0.682																																						uc002lev.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(2)	6						c.(1150-1152)GCG>GCT		mitogen-activated protein kinase 4							25.0	29.0	27.0					18																	48255612		2047	4145	6192	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48255612G>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1152G>T	18.37:g.48255612G>T						MAPK4_uc010xdm.1_Silent_p.A173A|MAPK4_uc010doz.2_3'UTR	p.A384A	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2152	+		Colorectal(6;0.0297)	384					A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.1152G>T	CCDS42437.1																																																																																				PASS	0.682	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		20	51	20	51	---	---	---	---
GALR1	2587	broad.mit.edu	37	18	74980855	74980855	+	Silent	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr18:74980855G>A	ENST00000299727.3	+	3	1047	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	349					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.V349V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTACTCATGTGTGATAAAAGA	0.383																																						uc002lms.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1045-1047)GTG>GTA		galanin receptor 1							55.0	58.0	57.0					18																	74980855		2183	4286	6469	SO:0001819	synonymous_variant	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980855G>A	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.1047G>A	18.37:g.74980855G>A							p.V349V	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	1544	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	349			Cytoplasmic (Potential).		Q4VBL7	Silent	SNP	ENST00000299727.3	37	c.1047G>A	CCDS12012.1																																																																																				PASS	0.383	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			26	125	26	125	---	---	---	---
MEX3D	399664	broad.mit.edu	37	19	1556842	1556842	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:1556842C>A	ENST00000402693.4	-	2	675	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L	AC027307.1_ENST00000410788.1_RNA|AC027307.2_ENST00000581992.1_RNA|MEX3D_ENST00000388824.6_Missense_Mutation_p.V226L	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	226	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V48L(1)		endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCGGTCACGATGAAGACC	0.657																																						uc010dsn.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(676-678)GTG>TTG		ring finger and KH domain containing 1							33.0	35.0	34.0					19																	1556842		2201	4289	6490	SO:0001583	missense	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556842C>A	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.676G>T	19.37:g.1556842C>A	ENSP00000384398:p.Val226Leu						p.V226L	NM_203304	NP_976049	Q86XN8	MEX3D_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	676	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	226			KH 1.		A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	ENST00000402693.4	37	c.676G>T	CCDS32865.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328190	0.81690	.	.	ENSG00000181588	ENST00000355663;ENST00000402693;ENST00000388824	T;T	0.32272	1.46;1.46	4.63	4.63	0.57726	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.52175	0.1718	L	0.58583	1.82	0.80722	D	1	D	0.65815	0.995	D	0.74023	0.982	T	0.56691	-0.7937	10	0.87932	D	0	-27.4847	16.4484	0.83959	0.0:1.0:0.0:0.0	.	226	Q86XN8	MEX3D_HUMAN	L	116;226;226	ENSP00000384398:V226L;ENSP00000373476:V226L	ENSP00000347885:V116L	V	-	1	0	MEX3D	1507842	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	5.687000	0.68219	2.125000	0.65367	0.491000	0.48974	GTG		PASS	0.657	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		10	36	10	36	---	---	---	---
SHD	56961	broad.mit.edu	37	19	4282913	4282913	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:4282913A>T	ENST00000543264.2	+	2	1807	c.344A>T	c.(343-345)cAt>cTt	p.H115L	SHD_ENST00000599689.1_Missense_Mutation_p.H115L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	115								p.H115L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCCTCATCCTGCACCC	0.577																																						uc002lzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)CAT>CTT		Src homology 2 domain containing transforming							120.0	109.0	113.0					19																	4282913		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4282913A>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.344A>T	19.37:g.4282913A>T	ENSP00000446058:p.His115Leu					SHD_uc010dtu.2_Missense_Mutation_p.H115L	p.H115L	NM_020209	NP_064594	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1807	+			115					Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.344A>T	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	A	9.228	1.035055	0.19590	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.27890	1.64	5.36	-0.636	0.11508	.	0.512135	0.20743	N	0.086497	T	0.13543	0.0328	N	0.22421	0.69	0.09310	N	1	B;B	0.27732	0.187;0.005	B;B	0.18263	0.021;0.019	T	0.10405	-1.0631	10	0.45353	T	0.12	-6.3593	1.3072	0.02090	0.3247:0.2993:0.0858:0.2901	.	29;115	Q9NPN8;Q96IW2	.;SHD_HUMAN	L	115;30	ENSP00000446058:H115L	ENSP00000221852:H30L	H	+	2	0	SHD	4233913	0.000000	0.05858	0.009000	0.14445	0.116000	0.19942	1.135000	0.31454	-0.251000	0.09542	-0.737000	0.03537	CAT		PASS	0.577	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		36	146	36	146	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5133937	5133937	+	Silent	SNP	C	C	T	rs146435915	byFrequency	TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:5133937C>T	ENST00000159111.4	+	14	2168	c.1950C>T	c.(1948-1950)gaC>gaT	p.D650D	KDM4B_ENST00000536461.1_Silent_p.D684D	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	650					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.D650D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTGACCCGGACGCCTTGAGGC	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16862	0.0		0.0	False		,,,				2504	0.0					uc002mbq.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1948-1950)GAC>GAT		jumonji domain containing 2B		C		0,4406		0,0,2203	47.0	54.0	52.0		1950	1.6	0.2	19	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDM4B	NM_015015.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		650/1097	5133937	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5133937C>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1950C>T	19.37:g.5133937C>T						KDM4B_uc010xim.1_Silent_p.D684D|KDM4B_uc002mbr.3_Silent_p.D408D	p.D650D	NM_015015	NP_055830	O94953	KDM4B_HUMAN			14	2176	+			650					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	c.1950C>T	CCDS12138.1																																																																																				PASS	0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		23	87	23	87	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8966671	8966671	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:8966671T>C	ENST00000397910.4	-	81	43485	c.43282A>G	c.(43282-43284)Agg>Ggg	p.R14428G	MUC16_ENST00000380951.5_Missense_Mutation_p.R1069G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14526	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R14428G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACACTGCTCCTGTCCAGGGTG	0.562																																						uc002mkp.2																			1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(43282-43284)AGG>GGG		mucin 16							34.0	37.0	36.0					19																	8966671		1970	4155	6125	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8966671T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43282A>G	19.37:g.8966671T>C	ENSP00000381008:p.Arg14428Gly					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R1228G|MUC16_uc010xki.1_RNA	p.R14428G	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			81	43486	-			14526	Missing (in Ref. 3; AAK74120).		SEA 16.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43282A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	15.00	2.703417	0.48412	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.34275	1.37;1.37	4.22	1.93	0.25924	SEA (1);	.	.	.	.	T	0.48295	0.1492	L	0.54323	1.7	.	.	.	D;D	0.89917	0.996;1.0	P;D	0.85130	0.885;0.997	T	0.55623	-0.8112	8	0.72032	D	0.01	.	4.5322	0.12011	0.1971:0.0:0.205:0.5979	.	22073;14428	Q8WXI7;B5ME49	MUC16_HUMAN;.	G	14428;1069	ENSP00000381008:R14428G;ENSP00000370338:R1069G	ENSP00000370338:R1069G	R	-	1	2	MUC16	8827671	0.403000	0.25319	0.918000	0.36340	0.684000	0.39900	1.172000	0.31908	0.763000	0.33175	-0.319000	0.08680	AGG		PASS	0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	13	6	13	---	---	---	---
ZNF426	79088	broad.mit.edu	37	19	9639140	9639140	+	Silent	SNP	T	T	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:9639140T>C	ENST00000535489.1	-	6	1917	c.1581A>G	c.(1579-1581)acA>acG	p.T527T	ZNF426_ENST00000593003.1_Silent_p.T489T|ZNF426_ENST00000253115.2_Silent_p.T527T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T527T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTTTCTCTTCTGTGTGAGTTT	0.428																																						uc002mlq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1579-1581)ACA>ACG		zinc finger protein 426							114.0	103.0	106.0					19																	9639140		2203	4300	6503	SO:0001819	synonymous_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639140T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1581A>G	19.37:g.9639140T>C						ZNF426_uc010dws.2_Silent_p.T489T	p.T527T	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN			8	1845	-			527					B3KTL2	Silent	SNP	ENST00000535489.1	37	c.1581A>G	CCDS12215.1																																																																																				PASS	0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		60	158	60	158	---	---	---	---
ANGPTL6	83854	broad.mit.edu	37	19	10204093	10204093	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:10204093C>G	ENST00000253109.4	-	5	1392	c.1154G>C	c.(1153-1155)gGa>gCa	p.G385A	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G385A|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G345A	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	385	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)		p.G385A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AAGAGAGTCTCCAGCATCACC	0.577																																						uc002mmx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1153-1155)GGA>GCA		angiopoietin-like 6 precursor							89.0	77.0	81.0					19																	10204093		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10204093C>G	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1154G>C	19.37:g.10204093C>G	ENSP00000253109:p.Gly385Ala					ANGPTL6_uc002mmy.1_Missense_Mutation_p.G385A	p.G385A	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		5	1272	-			385			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.1154G>C	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409441	0.83340	.	.	ENSG00000130812	ENST00000253109	D	0.85411	-1.98	4.47	4.47	0.54385	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.411434	0.22432	N	0.060132	D	0.94618	0.8265	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96138	0.9098	10	0.87932	D	0	.	16.1183	0.81324	0.0:1.0:0.0:0.0	.	385	Q8NI99	ANGL6_HUMAN	A	385	ENSP00000253109:G385A	ENSP00000253109:G385A	G	-	2	0	ANGPTL6	10065093	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.590000	0.82653	2.360000	0.80028	0.485000	0.47835	GGA		PASS	0.577	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		34	103	34	103	---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10798245	10798245	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:10798245G>C	ENST00000590261.1	+	17	2283	c.2283G>C	c.(2281-2283)caG>caC	p.Q761H	ILF3_ENST00000588657.1_Missense_Mutation_p.Q765H|ILF3_ENST00000449870.1_Missense_Mutation_p.Q765H|ILF3_ENST00000318511.3_Missense_Mutation_p.Q761H			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	761	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q761H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCTACAACCAGAGCCCCTACA	0.607																																						uc002mpn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2281-2283)CAG>CAC		interleukin enhancer binding factor 3 isoform a							47.0	52.0	50.0					19																	10798245		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding	g.chr19:10798245G>C	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2283G>C	19.37:g.10798245G>C	ENSP00000468156:p.Gln761His					ILF3_uc002mpo.2_Missense_Mutation_p.Q765H|ILF3_uc002mpq.2_Missense_Mutation_p.R64T	p.Q761H	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		18	2600	+			761			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2283G>C	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670214	0.47677	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.15718	2.4;2.4	5.06	3.98	0.46160	.	0.388834	0.23900	N	0.043453	T	0.23330	0.0564	L	0.29908	0.895	0.80722	D	1	D;D	0.64830	0.994;0.989	P;P	0.56865	0.808;0.648	T	0.00875	-1.1531	10	0.87932	D	0	.	12.5969	0.56474	0.0941:0.0:0.9059:0.0	.	765;761	G5E9M5;Q12906	.;ILF3_HUMAN	H	765;761	ENSP00000404121:Q765H;ENSP00000315205:Q761H	ENSP00000315205:Q761H	Q	+	3	2	ILF3	10659245	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.650000	0.37292	2.639000	0.89480	0.655000	0.94253	CAG		PASS	0.607	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			6	54	6	54	---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11215997	11215997	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:11215997G>C	ENST00000558518.1	+	4	602	c.415G>C	c.(415-417)Gac>Cac	p.D139H	LDLR_ENST00000557933.1_Missense_Mutation_p.D139H|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.D98H|LDLR_ENST00000558013.1_Missense_Mutation_p.D139H|LDLR_ENST00000455727.2_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	139	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.		D -> H (found in a patient with hypercholesterolemia). {ECO:0000269|PubMed:21418584}.		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.D139H(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GGACGGCTCAGACGAGGCCTC	0.647																																					GBM(18;201 575 7820 21545)	uc002mqk.3																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(2)|skin(2)	4	GRCh37	CM002339	LDLR	M		c.(415-417)GAC>CAC		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						144.0	139.0	140.0					19																	11215997		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11215997G>C	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.415G>C	19.37:g.11215997G>C	ENSP00000454071:p.Asp139His					LDLR_uc010xlk.1_Missense_Mutation_p.D139H|LDLR_uc010xll.1_Missense_Mutation_p.D98H|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron	p.D139H	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	4	583	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	139			Extracellular (Potential).|LDL-receptor class A 3.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.415G>C	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642710	0.67244	.	.	ENSG00000130164	ENST00000252444;ENST00000535915	D;D	0.99150	-4.46;-5.49	5.6	5.6	0.85130	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000012	D	0.99670	0.9877	H	0.99197	4.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.998;1.0;0.993	D	0.97335	0.9953	10	0.87932	D	0	.	18.3742	0.90430	0.0:0.0:1.0:0.0	.	98;151;139	B4DTQ3;Q59FQ1;P01130	.;.;LDLR_HUMAN	H	139;98	ENSP00000252444:D139H;ENSP00000440520:D98H	ENSP00000252444:D139H	D	+	1	0	LDLR	11076997	1.000000	0.71417	0.786000	0.31890	0.101000	0.19017	9.751000	0.98889	2.648000	0.89879	0.591000	0.81541	GAC		PASS	0.647	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			65	239	65	239	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15770052	15770052	+	Missense_Mutation	SNP	G	G	C	rs118159249	byFrequency	TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:15770052G>C	ENST00000221307.8	+	13	1467	c.1420G>C	c.(1420-1422)Gcg>Ccg	p.A474P	CYP4F3_ENST00000585846.1_Missense_Mutation_p.A474P|CYP4F3_ENST00000591058.1_Missense_Mutation_p.A474P|CYP4F3_ENST00000586182.2_Missense_Mutation_p.A474P	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	474					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.A474P(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCAGGCGTTCGCGATGGCGGA	0.677																																						uc002nbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1420-1422)GCG>CCG		cytochrome P450, family 4, subfamily F,							25.0	27.0	27.0					19																	15770052		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15770052G>C	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1420G>C	19.37:g.15770052G>C	ENSP00000221307:p.Ala474Pro					CYP4F3_uc010xok.1_Missense_Mutation_p.A474P|CYP4F3_uc010xol.1_Missense_Mutation_p.A474P|CYP4F3_uc010xom.1_Missense_Mutation_p.A325P|CYP4F3_uc002nbk.2_Missense_Mutation_p.A474P|CYP4F3_uc010xon.1_Missense_Mutation_p.A184P	p.A474P	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			13	1470	+			474					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.1420G>C	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	14.21	2.468167	0.43839	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.87650	-2.28	3.48	2.41	0.29592	.	0.000000	0.64402	U	0.000006	D	0.95230	0.8453	H	0.98178	4.165	0.58432	D	0.999993	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	D	0.94388	0.7611	10	0.87932	D	0	.	9.6158	0.39690	0.0:0.0:0.7892:0.2108	.	184;474;474	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	P	401;474	ENSP00000221307:A474P	ENSP00000221307:A474P	A	+	1	0	CYP4F3	15631052	1.000000	0.71417	0.896000	0.35187	0.015000	0.08874	6.755000	0.74914	0.634000	0.30469	0.305000	0.20034	GCG		PASS	0.677	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		5	40	5	40	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	15989724	15989724	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:15989724C>G	ENST00000221700.6	-	13	1515	c.1420G>C	c.(1420-1422)Gcg>Ccg	p.A474P		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.A474P(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCCGCCATCGCGAACGTCTGC	0.677																																						uc002nbs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1420-1422)GCG>CCG		cytochrome P450, family 4, subfamily F,							47.0	45.0	45.0					19																	15989724		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989724C>G	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1420G>C	19.37:g.15989724C>G	ENSP00000221700:p.Ala474Pro					CYP4F2_uc010xot.1_Missense_Mutation_p.A325P	p.A474P	NM_001082	NP_001073	P78329	CP4F2_HUMAN			13	1470	-			474						Missense_Mutation	SNP	ENST00000221700.6	37	c.1420G>C	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.261141	0.39995	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	D	0.87650	-2.28	2.62	1.51	0.23008	.	0.000000	0.64402	U	0.000006	D	0.94588	0.8256	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93029	0.6447	10	0.87932	D	0	.	8.3172	0.32108	0.2379:0.762:0.0:0.0	.	474	P78329	CP4F2_HUMAN	P	474;325	ENSP00000221700:A474P	ENSP00000221700:A474P	A	-	1	0	CYP4F2	15850724	0.995000	0.38212	0.293000	0.24932	0.034000	0.12701	3.126000	0.50477	0.385000	0.24970	0.484000	0.47621	GCG		PASS	0.677	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		6	80	6	80	---	---	---	---
MVB12A	93343	broad.mit.edu	37	19	17534842	17534842	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:17534842A>C	ENST00000317040.7	+	7	1723	c.668A>C	c.(667-669)cAc>cCc	p.H223P	MVB12A_ENST00000392702.2_Missense_Mutation_p.H183P|MVB12A_ENST00000528515.1_Missense_Mutation_p.T181P|MVB12A_ENST00000529939.1_Missense_Mutation_p.H223P|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000543795.1_Missense_Mutation_p.H223P			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	223	Interaction with TSG101, VPS37B and VPS28.|UMA. {ECO:0000255|PROSITE- ProRule:PRU00830}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)	p.H223P(1)									TTCACACTCCACCCACGATTT	0.637																																						uc002ngo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)CAC>CCC		family with sequence similarity 125, member A							89.0	75.0	80.0					19																	17534842		2203	4300	6503	SO:0001583	missense	93343				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding	g.chr19:17534842A>C	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.668A>C	19.37:g.17534842A>C	ENSP00000324810:p.His223Pro					FAM125A_uc002ngp.1_Missense_Mutation_p.H131P|FAM125A_uc002ngq.1_Missense_Mutation_p.H119P	p.H223P	NM_138401	NP_612410	Q96EY5	F125A_HUMAN			7	701	+			223			UMA.|Interaction with TSG101, VPS37B and VPS28.		Q96I18	Missense_Mutation	SNP	ENST00000317040.7	37	c.668A>C	CCDS12359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.38|17.38	3.374008|3.374008	0.61735|0.61735	.|.	.|.	ENSG00000141971|ENSG00000141971	ENST00000528604;ENST00000317040;ENST00000392702;ENST00000529939;ENST00000543795|ENST00000528515	T;T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82;0.82|.	4.97|4.97	4.97|4.97	0.65823|0.65823	UMA domain (1);|.	0.100848|.	0.64402|.	D|.	0.000003|.	T|T	0.64182|0.64182	0.2575|0.2575	M|M	0.62723|0.62723	1.935|1.935	0.45580|0.45580	D|D	0.998521|0.998521	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.63695|0.63695	-0.6579|-0.6579	10|5	0.59425|.	D|.	0.04|.	-19.6508|-19.6508	11.0637|11.0637	0.47964|0.47964	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	223|.	Q96EY5|.	F125A_HUMAN|.	P|P	84;223;183;223;223|181	ENSP00000435052:H84P;ENSP00000324810:H223P;ENSP00000376466:H183P;ENSP00000432526:H223P;ENSP00000444653:H223P|.	ENSP00000324810:H223P|.	H|T	+|+	2|1	0|0	FAM125A|FAM125A	17395842|17395842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.741000|0.741000	0.42261|0.42261	6.015000|6.015000	0.70791|0.70791	1.875000|1.875000	0.54330|0.54330	0.456000|0.456000	0.33151|0.33151	CAC|ACC		PASS	0.637	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		18	88	18	88	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941177	22941177	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:22941177C>G	ENST00000596209.1	-	4	1624	c.1534G>C	c.(1534-1536)Gaa>Caa	p.E512Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.E421Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E421Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGCAA	0.358																																						uc010xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1261-1263)GAA>CAA		zinc finger protein 99							40.0	42.0	41.0					19																	22941177		2053	4214	6267	SO:0001583	missense	7652							g.chr19:22941177C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1534G>C	19.37:g.22941177C>G	ENSP00000472969:p.Glu512Gln						p.E421Q	NM_001080409	NP_001073878					5	1261	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1261G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	7.509	0.654203	0.14580	.	.	ENSG00000213973	ENST00000397104	T	0.11604	2.76	1.16	-0.6	0.11642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	L	0.55834	1.745	0.09310	N	1	P	0.46656	0.882	B	0.43155	0.41	T	0.17018	-1.0383	9	0.29301	T	0.29	.	0.105	0.00051	0.2297:0.1982:0.2301:0.342	.	421	A8MXY4	ZNF99_HUMAN	Q	421	ENSP00000380293:E421Q	ENSP00000380293:E421Q	E	-	1	0	ZNF99	22733017	0.000000	0.05858	0.025000	0.17156	0.333000	0.28666	-6.124000	0.00079	-0.418000	0.07450	0.194000	0.17425	GAA		PASS	0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		20	74	20	74	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23543371	23543371	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:23543371C>A	ENST00000300619.7	-	4	2615	c.2410G>T	c.(2410-2412)Ggc>Tgc	p.G804C	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G772C|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	804					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G804C(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AAAGCTTTGCCACATTCTTCA	0.388																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2410-2412)GGC>TGC		zinc finger protein 91							68.0	72.0	71.0					19																	23543371		2184	4286	6470	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543371C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2410G>T	19.37:g.23543371C>A	ENSP00000300619:p.Gly804Cys					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.G772C	p.G804C	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	2523	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	804			C2H2-type 24.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2410G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863430	0.32884	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01516	4.81;4.81	1.52	1.52	0.23074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15219	0.0367	H	0.97131	3.945	0.32857	D	0.507462	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.26916	-1.0089	9	0.87932	D	0	.	9.9557	0.41666	0.0:1.0:0.0:0.0	.	772;804	Q05481-2;Q05481	.;ZNF91_HUMAN	C	804;772	ENSP00000300619:G804C;ENSP00000380272:G772C	ENSP00000300619:G804C	G	-	1	0	ZNF91	23335211	0.864000	0.29904	0.574000	0.28523	0.117000	0.20001	1.256000	0.32921	0.798000	0.33994	0.205000	0.17691	GGC		PASS	0.388	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		37	146	37	146	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30500243	30500243	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:30500243A>G	ENST00000542441.2	+	8	1315	c.1018A>G	c.(1018-1020)Act>Gct	p.T340A	URI1_ENST00000312051.6_Missense_Mutation_p.T300A|URI1_ENST00000392271.1_Missense_Mutation_p.T264A|URI1_ENST00000360605.4_Missense_Mutation_p.T322A			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	340					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.T340A(1)									TTTTTCACATACTGTTGAGCC	0.333																																						uc002nsr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1018-1020)ACT>GCT		RPB5-mediating protein isoform a							83.0	75.0	78.0					19																	30500243		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30500243A>G	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1018A>G	19.37:g.30500243A>G	ENSP00000442436:p.Thr340Ala					C19orf2_uc002nsq.2_Missense_Mutation_p.T322A|C19orf2_uc002nss.2_Missense_Mutation_p.T300A|C19orf2_uc002nst.2_Missense_Mutation_p.T264A	p.T340A	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	8	1048	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	340					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.1018A>G	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443102	0.83993	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.56444	0.46	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	M	0.67397	2.05	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.997;0.994;0.989	T	0.70905	-0.4745	10	0.44086	T	0.13	-24.8852	16.2851	0.82714	1.0:0.0:0.0:0.0	.	300;340;337	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	A	338;264;340;300	ENSP00000442436:T340A	ENSP00000312530:T300A	T	+	1	0	C19orf2	35192083	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.800000	0.75165	2.252000	0.74401	0.402000	0.26972	ACT		PASS	0.333	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		14	83	14	83	---	---	---	---
UBA2	10054	broad.mit.edu	37	19	34945244	34945244	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:34945244G>C	ENST00000246548.4	+	11	1188	c.1118G>C	c.(1117-1119)aGa>aCa	p.R373T	UBA2_ENST00000439527.2_Missense_Mutation_p.R277T	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	373					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.R373T(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGAAGAGTAGATTTGATATC	0.308																																						uc002nvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)AGA>ACA		SUMO-1 activating enzyme subunit 2							87.0	90.0	89.0					19																	34945244		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34945244G>C	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1118G>C	19.37:g.34945244G>C	ENSP00000246548:p.Arg373Thr					UBA2_uc010xrx.1_Missense_Mutation_p.R246T|UBA2_uc002nvl.2_Missense_Mutation_p.R277T	p.R373T	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		11	1188	+	Esophageal squamous(110;0.162)		373					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.1118G>C	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739950	0.49045	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.47177	0.85;0.85	5.34	5.34	0.76211	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.084193	0.85682	D	0.000000	T	0.62171	0.2406	M	0.89478	3.035	0.52099	D	0.999947	P	0.44578	0.838	B	0.44108	0.441	T	0.71642	-0.4531	10	0.66056	D	0.02	-12.7389	18.1751	0.89759	0.0:0.0:1.0:0.0	.	373	Q9UBT2	SAE2_HUMAN	T	246;373;277	ENSP00000246548:R373T;ENSP00000437484:R277T	ENSP00000246548:R373T	R	+	2	0	UBA2	39637084	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.127000	0.71642	2.660000	0.90430	0.563000	0.77884	AGA		PASS	0.308	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		36	132	36	132	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948829	38948829	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:38948829C>T	ENST00000359596.3	+	18	2064	c.2064C>T	c.(2062-2064)acC>acT	p.T688T	RYR1_ENST00000355481.4_Silent_p.T688T|RYR1_ENST00000360985.3_Silent_p.T688T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	688	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.T688T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGCCCTCACCGAGGGCTACA	0.627																																						uc002oit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2062-2064)ACC>ACT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						56.0	52.0	53.0					19																	38948829		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948829C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2064C>T	19.37:g.38948829C>T						RYR1_uc002oiu.2_Silent_p.T688T	p.T688T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2194	+	all_cancers(60;7.91e-06)		688			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2064C>T	CCDS33011.1																																																																																				PASS	0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			34	101	34	101	---	---	---	---
PNMAL2	57469	broad.mit.edu	37	19	46997151	46997151	+	Intron	SNP	C	C	A	rs551063520		TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:46997151C>A	ENST00000377655.2	-	1	734				AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000599531.1_Missense_Mutation_p.E524D|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGTCCTCCGGCTCCGACGCCT	0.741																																						uc002pes.2																			0				central_nervous_system(1)	1						c.(1570-1572)GAG>GAT		PNMA-like 2							16.0	17.0	17.0					19																	46997151		2011	4179	6190	SO:0001627	intron_variant	57469							g.chr19:46997151C>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+837G>T	19.37:g.46997151C>A						uc002peu.1_5'Flank	p.E524D	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	2019	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	524					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.1572G>T																																																																																					PASS	0.741	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		5	42	5	42	---	---	---	---
CYTH2	9266	broad.mit.edu	37	19	48976622	48976622	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:48976622G>T	ENST00000452733.2	+	5	897	c.421G>T	c.(421-423)Gtg>Ttg	p.V141L	CYTH2_ENST00000427476.1_Missense_Mutation_p.V141L			Q99418	CYH2_HUMAN	cytohesin 2	141	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)	p.V141L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCAATCTGGTGCAGGCCCT	0.507																																						uc002pjj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)GTG>TTG		cytohesin 2 isoform 1							96.0	81.0	86.0					19																	48976622		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48976622G>T	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.421G>T	19.37:g.48976622G>T	ENSP00000408236:p.Val141Leu					CYTH2_uc002pji.2_RNA	p.V141L	NM_017457	NP_059431	Q99418	CYH2_HUMAN			5	721	+			141			SEC7.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.421G>T	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256513	0.59321	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.27890	1.64;1.64;1.64	4.49	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	M	0.76938	2.355	0.80722	D	1	B	0.15473	0.013	B	0.22753	0.041	T	0.36432	-0.9748	10	0.62326	D	0.03	.	11.8991	0.52673	0.0:0.0:0.8242:0.1758	.	141	Q99418-2	.	L	141;141;163	ENSP00000408236:V141L;ENSP00000391648:V141L;ENSP00000314566:V163L	ENSP00000314566:V163L	V	+	1	0	CYTH2	53668434	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.382000	0.97209	1.239000	0.43787	0.462000	0.41574	GTG		PASS	0.507	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		17	87	17	87	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49937935	49937935	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:49937935G>C	ENST00000221485.3	-	5	732	c.561C>G	c.(559-561)taC>taG	p.Y187*	SLC17A7_ENST00000543531.1_Nonsense_Mutation_p.Y175*|SLC17A7_ENST00000600601.1_Nonsense_Mutation_p.Y120*	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	187					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)	p.Y187*(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCAGGCGGGGTATGTGACCC	0.582																																						uc002pnp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(559-561)TAC>TAG		solute carrier family 17, member 7							56.0	56.0	56.0					19																	49937935		2203	4300	6503	SO:0001587	stop_gained	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49937935G>C	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.561C>G	19.37:g.49937935G>C	ENSP00000221485:p.Tyr187*					SLC17A7_uc002pnq.1_Nonsense_Mutation_p.Y120*|SLC17A7_uc002pno.2_5'UTR	p.Y187*	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	5	733	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	187			Helical; (Potential).		B4DFR9|B4DG46|Q6PCD0	Nonsense_Mutation	SNP	ENST00000221485.3	37	c.561C>G	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	G	35	5.578372	0.96565	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	.	.	.	4.83	3.8	0.43715	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3466	0.26666	0.193:0.0:0.807:0.0	.	.	.	.	X	187;175	.	ENSP00000221485:Y187X	Y	-	3	2	SLC17A7	54629747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.469000	0.22067	1.403000	0.46800	0.650000	0.86243	TAC		PASS	0.582	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			13	62	13	62	---	---	---	---
FAM71E1	112703	broad.mit.edu	37	19	50978640	50978640	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:50978640G>A	ENST00000600100.1	-	3	845	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	FAM71E1_ENST00000595790.1_Missense_Mutation_p.P145S|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000376918.3_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	161								p.P145S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		AATAGGTCCGGGAGCTCCAGG	0.652																																						uc002psh.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(481-483)CCG>TCG		hypothetical protein LOC112703							37.0	37.0	37.0					19																	50978640		2202	4299	6501	SO:0001583	missense	112703							g.chr19:50978640G>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.481C>T	19.37:g.50978640G>A	ENSP00000472421:p.Pro161Ser					FAM71E1_uc002psg.2_Missense_Mutation_p.P145S|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	p.P161S	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	3	839	-		all_neural(266;0.131)	161					Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37	c.481C>T		.	.	.	.	.	.	.	.	.	.	G	18.31	3.596400	0.66332	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.45276	2.02;0.9	4.79	4.79	0.61399	.	0.084444	0.48767	D	0.000174	T	0.63640	0.2528	M	0.70275	2.135	0.38803	D	0.955237	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.69895	-0.5021	10	0.87932	D	0	-7.7654	15.1107	0.72355	0.0:0.0:1.0:0.0	.	161;145	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	S	161;145	ENSP00000375692:P161S;ENSP00000270620:P145S	ENSP00000270620:P145S	P	-	1	0	FAM71E1	55670452	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	4.922000	0.63404	2.380000	0.81148	0.462000	0.41574	CCG		PASS	0.652	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			8	16	8	16	---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51021789	51021789	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:51021789A>C	ENST00000599957.1	-	3	1378	c.1181T>G	c.(1180-1182)gTc>gGc	p.V394G	LRRC4B_ENST00000389201.3_Missense_Mutation_p.V394G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	394	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V394G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGCCAGTTGACGGAGGTCAT	0.647																																						uc002pss.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1180-1182)GTC>GGC		leucine rich repeat containing 4B precursor							58.0	68.0	65.0					19																	51021789		2184	4281	6465	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021789A>C	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1181T>G	19.37:g.51021789A>C	ENSP00000471502:p.Val394Gly						p.V394G	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1318	-		all_neural(266;0.131)	394			Extracellular (Potential).|Ig-like C2-type.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1181T>G	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.600700	0.66332	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.77229	-1.08	3.67	3.67	0.42095	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000003	D	0.90235	0.6947	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91657	0.5339	10	0.66056	D	0.02	.	10.6173	0.45458	1.0:0.0:0.0:0.0	.	394	Q9NT99	LRC4B_HUMAN	G	394	ENSP00000373853:V394G	ENSP00000373853:V394G	V	-	2	0	LRRC4B	55713601	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	9.126000	0.94411	1.686000	0.51046	0.379000	0.24179	GTC		PASS	0.647	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		6	30	6	30	---	---	---	---
KLK15	55554	broad.mit.edu	37	19	51330015	51330015	+	Splice_Site	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:51330015T>A	ENST00000598239.1	-	4	512		c.e4-2		KLK15_ENST00000596931.1_Intron|KLK15_ENST00000301421.2_Intron|KLK1_ENST00000301420.2_5'Flank|KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000326856.4_Splice_Site|KLK15_ENST00000416184.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGAGACTCACTGGGGAAGACA	0.547																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2																			1	Unknown(1)		lung(1)	lung(1)|breast(1)	2						c.e4-1		kallikrein-related peptidase 15 isoform 4							114.0	106.0	109.0					19																	51330015		2203	4300	6503	SO:0001630	splice_region_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330015T>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.482-2A>T	19.37:g.51330015T>A						KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Splice_Site_p.V160_splice|KLK15_uc010ych.1_Splice_Site|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_RNA	p.V161_splice	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	513	-		all_neural(266;0.057)						A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Splice_Site	SNP	ENST00000598239.1	37	c.482_splice	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594028	0.66219	.	.	ENSG00000174562	ENST00000326856	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3458	0.55119	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLK15	56021827	1.000000	0.71417	0.950000	0.38849	0.828000	0.46876	2.805000	0.47939	2.096000	0.63516	0.454000	0.30748	.		PASS	0.547	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509	Intron	43	99	43	99	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53669097	53669097	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:53669097T>A	ENST00000600412.1	-	2	566	c.451A>T	c.(451-453)Act>Tct	p.T151S	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.T216S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T216S(1)|p.T151S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACGAACAGTAAAGGCTTTG	0.403																																						uc010eqm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(646-648)ACT>TCT		zinc finger protein 665							121.0	131.0	127.0					19																	53669097		2202	4300	6502	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669097T>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.451A>T	19.37:g.53669097T>A	ENSP00000469154:p.Thr151Ser						p.T216S	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	746	-			151			C2H2-type 2.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.646A>T		.	.	.	.	.	.	.	.	.	.	T	0.591	-0.832852	0.02713	.	.	ENSG00000197497	ENST00000396424	T	0.35236	1.32	2.29	-0.0407	0.13871	.	.	.	.	.	T	0.11922	0.0290	N	0.05330	-0.07	0.09310	N	1	B	0.15141	0.012	B	0.16289	0.015	T	0.28808	-1.0032	9	0.02654	T	1	.	0.7111	0.00924	0.2014:0.1266:0.2075:0.4646	.	216	Q9H7R5-2	.	S	216	ENSP00000379702:T216S	ENSP00000379702:T216S	T	-	1	0	ZNF665	58360909	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.507000	0.02268	-0.233000	0.09797	0.443000	0.29094	ACT		PASS	0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		64	173	64	173	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54410101	54410101	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:54410101C>T	ENST00000263431.3	+	18	2328	c.2046C>T	c.(2044-2046)caC>caT	p.H682H	CACNG7_ENST00000391767.1_5'Flank|PRKCG_ENST00000542049.1_Silent_p.H533H|PRKCG_ENST00000540413.1_Silent_p.H682H	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	682	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.H682H(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACTTCGTGCACCCGGATGCCC	0.697											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qcq.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(2044-2046)CAC>CAT		protein kinase C, gamma							43.0	52.0	49.0					19																	54410101		2203	4299	6502	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54410101C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.2046C>T	19.37:g.54410101C>T			OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	PRKCG_uc010yeg.1_Silent_p.H682H|PRKCG_uc010yeh.1_Silent_p.H533H	p.H682H	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	18	2328	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		682			AGC-kinase C-terminal.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.2046C>T	CCDS12867.1																																																																																				PASS	0.697	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		16	83	16	83	---	---	---	---
CACNG8	59283	broad.mit.edu	37	19	54466449	54466449	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:54466449G>A	ENST00000270458.2	+	1	156	c.53G>A	c.(52-54)gGg>gAg	p.G18E		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	18					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G18E(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TGCGAGAAGGGGGTGCAGGTG	0.692																																						uc002qcs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)GGG>GAG		voltage-dependent calcium channel gamma-8							29.0	29.0	29.0					19																	54466449		2200	4296	6496	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54466449G>A	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.53G>A	19.37:g.54466449G>A	ENSP00000270458:p.Gly18Glu						p.G17E	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	1	156	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		18					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.50G>A	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948649	0.73787	.	.	ENSG00000142408	ENST00000270458	D	0.89617	-2.54	3.51	2.45	0.29901	.	0.000000	0.64402	U	0.000001	D	0.92922	0.7748	M	0.83603	2.65	0.36913	D	0.890989	D	0.67145	0.996	D	0.65573	0.936	D	0.93812	0.7111	9	0.62326	D	0.03	.	8.8821	0.35380	0.1172:0.0:0.8828:0.0	.	18	Q8WXS5	CCG8_HUMAN	E	18	ENSP00000270458:G18E	ENSP00000270458:G18E	G	+	2	0	CACNG8	59158261	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.017000	0.76399	0.612000	0.30071	0.282000	0.19409	GGG		PASS	0.692	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			3	10	3	10	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54745734	54745734	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:54745734G>A	ENST00000396365.2	-	4	415	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	LILRA6_ENST00000270464.5_Missense_Mutation_p.L126F|LILRA6_ENST00000440558.2_Missense_Mutation_p.L126F|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Missense_Mutation_p.L126F|LILRA6_ENST00000245621.5_Missense_Mutation_p.L126F|LILRA6_ENST00000419410.2_Missense_Mutation_p.L126F	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	126					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.L126F(2)		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)		AGGGCTGAGAGGGTGGGTTTG	0.567																																						uc002qeu.1																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(376-378)CTC>TTC		leukocyte immunoglobulin-like receptor,							62.0	102.0	89.0					19																	54745734		2108	4294	6402	SO:0001583	missense	79168					integral to membrane	receptor activity	g.chr19:54745734G>A	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.376C>T	19.37:g.54745734G>A	ENSP00000379651:p.Leu126Phe					LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Missense_Mutation_p.L126F|LILRA6_uc002qek.1_Missense_Mutation_p.L126F|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.L126F|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.L126F|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.L126F|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.L126F|LILRA6_uc010yep.1_Missense_Mutation_p.L126F|LILRA6_uc010yeq.1_Missense_Mutation_p.L126F|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_5'UTR	p.L126F	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	500	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		126			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000396365.2	37	c.376C>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060161	0.55432	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.03860	5.08;5.08;5.08;3.78;5.08;5.08	3.4	3.4	0.38934	Immunoglobulin-like fold (1);	0.278862	0.25747	N	0.028562	T	0.24275	0.0588	M	0.91249	3.19	0.26514	N	0.974553	D;D;D;D;D;D	0.76494	0.995;0.983;0.998;0.999;0.999;0.999	D;D;D;D;D;D	0.74674	0.95;0.911;0.944;0.962;0.984;0.965	T	0.04386	-1.0955	10	0.72032	D	0.01	.	10.5189	0.44907	0.0:0.0:1.0:0.0	.	126;126;126;126;126;126	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	F	126	ENSP00000390120:L126F;ENSP00000270464:L126F;ENSP00000411227:L126F;ENSP00000375615:L126F;ENSP00000379651:L126F;ENSP00000245621:L126F	ENSP00000245621:L126F	L	-	1	0	LILRA6	59437546	0.011000	0.17503	0.553000	0.28255	0.078000	0.17371	1.276000	0.33156	1.936000	0.56123	0.184000	0.17185	CTC		PASS	0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		17	82	17	82	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57286498	57286498	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:57286498C>A	ENST00000391708.3	-	12	1684	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	ZIM2_ENST00000599935.1_Missense_Mutation_p.R381M|ZIM2_ENST00000593711.1_Missense_Mutation_p.R381M|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R381M|ZIM2_ENST00000221722.5_Missense_Mutation_p.R381M	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R381M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGAAGTCTTCCTACCAGAATG	0.463																																						uc002qnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1141-1143)AGG>ATG		zinc finger, imprinted 2							103.0	87.0	92.0					19																	57286498		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286498C>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1142G>T	19.37:g.57286498C>A	ENSP00000375589:p.Arg381Met					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.R177M|ZIM2_uc010ygr.1_Missense_Mutation_p.R177M|ZIM2_uc002qnq.2_Missense_Mutation_p.R381M|ZIM2_uc010etp.2_Missense_Mutation_p.R381M|ZIM2_uc010ygs.1_Missense_Mutation_p.R381M	p.R381M	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1524	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	381					Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.1142G>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594323	0.28445	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.15256	2.44;2.44	4.3	0.442	0.16582	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	N	0.24115	0.695	.	.	.	P	0.48640	0.913	B	0.40741	0.339	T	0.20140	-1.0284	8	0.87932	D	0	.	4.155	0.10256	0.0:0.2402:0.1706:0.5892	.	381	Q9NZV7	ZIM2_HUMAN	M	381	ENSP00000375589:R381M;ENSP00000221722:R381M	ENSP00000221722:R381M	R	-	2	0	ZIM2	61978310	0.017000	0.18338	0.002000	0.10522	0.004000	0.04260	2.053000	0.41326	-0.068000	0.12953	-0.345000	0.07892	AGG		PASS	0.463	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			41	113	41	113	---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420710	58420710	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr19:58420710A>C	ENST00000312026.5	-	3	1100	c.936T>G	c.(934-936)atT>atG	p.I312M	ZNF417_ENST00000595559.1_Missense_Mutation_p.I311M|ZNF417_ENST00000536263.1_Missense_Mutation_p.I113M|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I312M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		GCTGATGGCTAATAAGGCTGC	0.458																																						uc002qqq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)ATT>ATG		zinc finger protein 417							152.0	141.0	145.0					19																	58420710		2203	4298	6501	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420710A>C	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.936T>G	19.37:g.58420710A>C	ENSP00000311319:p.Ile312Met					ZNF417_uc010yhm.1_Missense_Mutation_p.I269M|ZNF417_uc002qqr.2_Missense_Mutation_p.I311M	p.I312M	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1135	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	312			C2H2-type 4.		B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.936T>G	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	11.08	1.532223	0.27387	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.31247	2.29;1.5	2.15	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32704	0.0838	L	0.48218	1.51	0.09310	N	1	D;P	0.53151	0.958;0.832	P;P	0.50934	0.654;0.601	T	0.09037	-1.0693	9	0.45353	T	0.12	.	6.5379	0.22365	0.7544:0.2455:0.0:0.0	.	312;312	F5H0M9;Q8TAU3	.;ZN417_HUMAN	M	312;113	ENSP00000311319:I312M;ENSP00000442760:I113M	ENSP00000311319:I312M	I	-	3	3	ZNF417	63112522	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-2.900000	0.00704	0.993000	0.38866	0.163000	0.16589	ATT		PASS	0.458	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		71	297	71	297	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961207	1961207	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr20:1961207C>T	ENST00000217305.2	-	4	752	c.527G>A	c.(526-528)gGg>gAg	p.G176E	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.G176E|PDYN_ENST00000539905.1_Missense_Mutation_p.G176E	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	176					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.G176E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAAAAAGCCCCCATAGCGTTT	0.592																																						uc010gaj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(526-528)GGG>GAG		beta-neoendorphin-dynorphin preproprotein							101.0	105.0	104.0					20																	1961207		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961207C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.527G>A	20.37:g.1961207C>T	ENSP00000217305:p.Gly176Glu					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G176E|PDYN_uc010zpt.1_Missense_Mutation_p.G21E	p.G176E	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	769	-			176					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.527G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643040	0.87859	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.97665	-4.48;-4.48;-4.48	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99461	1.0943	10	0.87932	D	0	-31.7954	15.5233	0.75881	0.0:1.0:0.0:0.0	.	176	P01213	PDYN_HUMAN	E	176	ENSP00000440185:G176E;ENSP00000442259:G176E;ENSP00000217305:G176E	ENSP00000217305:G176E	G	-	2	0	PDYN	1909207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.294000	0.72738	2.531000	0.85337	0.491000	0.48974	GGG		PASS	0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			56	160	56	160	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4162950	4162950	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr20:4162950G>T	ENST00000305958.4	+	5	1049	c.824G>T	c.(823-825)gGc>gTc	p.G275V	SMOX_ENST00000379460.2_Missense_Mutation_p.G275V|SMOX_ENST00000278795.3_Missense_Mutation_p.G275V|SMOX_ENST00000339123.6_Missense_Mutation_p.G275V|SMOX_ENST00000346595.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	275					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.G275V(2)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CGCCCCAGAGGCCCTGAGATT	0.677																																						uc002wkm.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(823-825)GGC>GTC		spermine oxidase isoform 1	Spermine(DB00127)						19.0	20.0	20.0					20																	4162950		2203	4299	6502	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4162950G>T	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.824G>T	20.37:g.4162950G>T	ENSP00000307252:p.Gly275Val					SMOX_uc002wkk.1_Missense_Mutation_p.G275V|SMOX_uc002wkl.1_Missense_Mutation_p.G275V|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.G275V|SMOX_uc010zqo.1_Missense_Mutation_p.G252V|SMOX_uc002wko.1_Missense_Mutation_p.G275V	p.G275V	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN			5	1025	+			275					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.824G>T	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	9.195	1.027090	0.19512	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;T;D;T;T	0.95447	-3.71;1.99;-3.71;1.99;1.52	5.03	5.03	0.67393	.	0.270015	0.36555	N	0.002532	D	0.88592	0.6478	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.21071	0.001;0.051;0.005;0.001;0.041	B;B;B;B;B	0.16289	0.003;0.015;0.008;0.001;0.007	D	0.84942	0.0866	10	0.18710	T	0.47	-18.7926	15.9063	0.79433	0.0:0.0:1.0:0.0	.	252;275;275;275;275	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	V	275;275;275;275;132	ENSP00000344595:G275V;ENSP00000307252:G275V;ENSP00000278795:G275V;ENSP00000368773:G275V;ENSP00000407269:G132V	ENSP00000278795:G275V	G	+	2	0	SMOX	4110950	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	5.147000	0.64851	2.345000	0.79718	0.558000	0.71614	GGC		PASS	0.677	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		12	36	12	36	---	---	---	---
TTLL9	164395	broad.mit.edu	37	20	30527060	30527060	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr20:30527060A>G	ENST00000375938.4	+	14	1487	c.1234A>G	c.(1234-1236)Aca>Gca	p.T412A	TTLL9_ENST00000535842.1_Missense_Mutation_p.T412A|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000375934.4_3'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	412					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.T412A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGTGACCAACACACATCTCGG	0.567																																						uc010gdx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1234-1236)ACA>GCA		tubulin tyrosine ligase-like family, member 9							60.0	68.0	65.0					20																	30527060		2018	4178	6196	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30527060A>G	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1234A>G	20.37:g.30527060A>G	ENSP00000365105:p.Thr412Ala					TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.T314A|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_RNA	p.T412A	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		14	1487	+			412					A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.1234A>G	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.786176	0.70337	.	.	ENSG00000131044	ENST00000375938;ENST00000535842	T;T	0.03607	3.87;3.87	5.88	5.88	0.94601	.	0.567797	0.18871	N	0.128836	T	0.08758	0.0217	M	0.66939	2.045	0.80722	D	1	P;P	0.49253	0.921;0.803	P;P	0.47162	0.472;0.54	T	0.30416	-0.9979	10	0.27082	T	0.32	.	13.6719	0.62430	1.0:0.0:0.0:0.0	.	412;314	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	A	412	ENSP00000365105:T412A;ENSP00000442515:T412A	ENSP00000365105:T412A	T	+	1	0	TTLL9	29990721	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	7.877000	0.87225	2.257000	0.74773	0.459000	0.35465	ACA		PASS	0.567	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		21	61	21	61	---	---	---	---
BPIFB2	80341	broad.mit.edu	37	20	31600616	31600616	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr20:31600616A>T	ENST00000170150.3	+	4	406	c.211A>T	c.(211-213)Att>Ttt	p.I71F		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	71						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.I71F(1)									CAGGATCCGGATTCTGAATGT	0.527																																						uc002wyj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(211-213)ATT>TTT		bactericidal/permeability-increasing							202.0	189.0	193.0					20																	31600616		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31600616A>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.211A>T	20.37:g.31600616A>T	ENSP00000170150:p.Ile71Phe						p.I71F	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			4	405	+			71					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.211A>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160098	0.38119	.	.	ENSG00000078898	ENST00000170150	T	0.16743	2.32	4.41	3.28	0.37604	.	0.405345	0.21093	N	0.080289	T	0.15392	0.0371	L	0.32530	0.975	0.38596	D	0.950551	P	0.44946	0.846	P	0.44860	0.462	T	0.04565	-1.0942	10	0.87932	D	0	-2.7273	8.184	0.31328	0.7976:0.2024:0.0:0.0	.	71	Q8N4F0	BPIB2_HUMAN	F	71	ENSP00000170150:I71F	ENSP00000170150:I71F	I	+	1	0	BPIFB2	31064277	0.883000	0.30277	0.929000	0.37066	0.537000	0.34900	1.201000	0.32259	0.801000	0.34066	0.533000	0.62120	ATT		PASS	0.527	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		102	318	102	318	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60926760	60926760	+	Splice_Site	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr20:60926760C>A	ENST00000252999.3	-	6	1022	c.956G>T	c.(955-957)aGg>aTg	p.R319M	LAMA5_ENST00000370692.3_Splice_Site_p.R319M|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000456721.2_RNA|LAMA5_ENST00000370677.3_Splice_Site_p.R319M	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	319	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.R319M(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGGCCTCACCTGAACGGGTC	0.627																																						uc002ycq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(955-957)AGG>ATG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						36.0	37.0	36.0					20																	60926760		2200	4288	6488	SO:0001630	splice_region_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60926760C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.956+1G>T	20.37:g.60926760C>A							p.R319M	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		6	1023	-	Breast(26;1.57e-08)		319			Laminin EGF-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.956G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	14.52	2.559482	0.45590	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.61980	0.06;0.06;0.06	4.3	4.3	0.51218	EGF-like, laminin (3);	0.158309	0.56097	U	0.000028	T	0.76506	0.3997	M	0.67700	2.07	0.46564	D	0.999102	D	0.89917	1.0	D	0.74348	0.983	T	0.77827	-0.2443	9	.	.	.	.	16.3838	0.83490	0.0:1.0:0.0:0.0	.	319	O15230	LAMA5_HUMAN	M	319	ENSP00000252999:R319M;ENSP00000359726:R319M;ENSP00000359711:R319M	.	R	-	2	0	LAMA5	60360155	1.000000	0.71417	0.993000	0.49108	0.081000	0.17604	3.336000	0.52113	1.944000	0.56390	0.550000	0.68814	AGG		PASS	0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	Missense_Mutation	7	15	7	15	---	---	---	---
USP16	10600	broad.mit.edu	37	21	30419000	30419000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr21:30419000C>T	ENST00000334352.4	+	15	1600	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	USP16_ENST00000399976.2_Nonsense_Mutation_p.Q457*|USP16_ENST00000535828.1_Nonsense_Mutation_p.Q86*|USP16_ENST00000399975.3_Nonsense_Mutation_p.Q456*	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.Q457*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CCAACGAAGACAACAAAAAAT	0.348																																					Melanoma(92;625 1444 27493 34101 44971)	uc002ymy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(1369-1371)CAA>TAA		ubiquitin specific protease 16 isoform a							31.0	32.0	32.0					21																	30419000		2197	4280	6477	SO:0001587	stop_gained	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419000C>T	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1369C>T	21.37:g.30419000C>T	ENSP00000334808:p.Gln457*					USP16_uc002ymx.2_Nonsense_Mutation_p.Q456*|USP16_uc002ymw.2_Nonsense_Mutation_p.Q457*|USP16_uc011acm.1_Nonsense_Mutation_p.Q442*|USP16_uc011acn.1_Nonsense_Mutation_p.Q123*|USP16_uc011aco.1_Nonsense_Mutation_p.Q147*	p.Q457*	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN			14	1571	+			457						Nonsense_Mutation	SNP	ENST00000334352.4	37	c.1369C>T	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416340	0.83449	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.1301	0.93402	0.0:1.0:0.0:0.0	.	.	.	.	X	456;457;457;86	.	ENSP00000334808:Q457X	Q	+	1	0	USP16	29340871	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	5.635000	0.67841	2.767000	0.95098	0.655000	0.94253	CAA		PASS	0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			15	58	15	58	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41447126	41447126	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr21:41447126G>T	ENST00000400454.1	-	27	5203	c.4726C>A	c.(4726-4728)Ctc>Atc	p.L1576I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1576					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L1576I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACTTAATGAGTGGAGGAATT	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(4726-4728)CTC>ATC		Down syndrome cell adhesion molecule isoform							116.0	110.0	112.0					21																	41447126		2022	4169	6191	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41447126G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4726C>A	21.37:g.41447126G>T	ENSP00000383303:p.Leu1576Ile					DSCAM_uc002yyr.1_Intron	p.L1576I	NM_001389	NP_001380	O60469	DSCAM_HUMAN			27	5178	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1576			Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4726C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864867	0.51482	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.58506	0.33;0.43	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	N	0.12746	0.255	0.33251	D	0.558553	D	0.60575	0.988	P	0.54759	0.76	T	0.59364	-0.7468	10	0.25751	T	0.34	.	19.812	0.96551	0.0:0.0:1.0:0.0	.	1576	O60469	DSCAM_HUMAN	I	1576;1328	ENSP00000383303:L1576I;ENSP00000385342:L1328I	ENSP00000383303:L1576I	L	-	1	0	DSCAM	40368996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.691000	0.54720	2.685000	0.91497	0.655000	0.94253	CTC		PASS	0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		28	84	28	84	---	---	---	---
MX2	4600	broad.mit.edu	37	21	42749718	42749718	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr21:42749718G>T	ENST00000330714.3	+	3	436	c.252G>T	c.(250-252)ggG>ggT	p.G84G	MX2_ENST00000543692.1_Silent_p.G84G	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	84					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G84G(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTCTCCAGGGGCCCGAGAACA	0.597																																						uc002yzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(250-252)GGG>GGT		myxovirus resistance protein 2							67.0	63.0	64.0					21																	42749718		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42749718G>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.252G>T	21.37:g.42749718G>T						MX2_uc011aer.1_RNA	p.G84G	NM_002463	NP_002454	P20592	MX2_HUMAN			3	356	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	84					B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.252G>T	CCDS13672.1																																																																																				PASS	0.597	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		15	71	15	71	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45945684	45945684	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr21:45945684C>A	ENST00000323084.4	-	8	1253	c.1188G>T	c.(1186-1188)aaG>aaT	p.K396N	TSPEAR_ENST00000397916.1_Missense_Mutation_p.K328N|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	396					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.K396N(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACTCCTGACCCTTCTCATCTG	0.527																																						uc002zfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1186-1188)AAG>AAT		chromosome 21 open reading frame 29 precursor							155.0	157.0	156.0					21																	45945684		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45945684C>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1188G>T	21.37:g.45945684C>A	ENSP00000321987:p.Lys396Asn					C21orf29_uc010gpv.1_Missense_Mutation_p.K328N	p.K396N	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			8	1254	-			396			EAR 2.			Missense_Mutation	SNP	ENST00000323084.4	37	c.1188G>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	7.600	0.672536	0.14776	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.81415	-1.49;-1.49	4.34	2.48	0.30137	.	0.782156	0.12714	N	0.445274	T	0.61375	0.2342	N	0.12182	0.205	0.80722	D	1	B	0.18863	0.031	B	0.26310	0.068	T	0.49908	-0.8889	10	0.18276	T	0.48	-21.383	5.2438	0.15487	0.1637:0.6629:0.0:0.1734	.	396	Q8WU66	TSEAR_HUMAN	N	396;249;328;397	ENSP00000321987:K396N;ENSP00000381012:K328N	ENSP00000321987:K396N	K	-	3	2	TSPEAR	44770112	0.010000	0.17322	0.731000	0.30826	0.904000	0.53231	0.407000	0.21049	0.941000	0.37499	0.591000	0.81541	AAG		PASS	0.527	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		68	218	68	218	---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19968948	19968948	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr22:19968948T>G	ENST00000263207.3	-	5	973	c.682A>C	c.(682-684)Aca>Cca	p.T228P	ARVCF_ENST00000344269.3_Missense_Mutation_p.T165P|ARVCF_ENST00000406259.1_Missense_Mutation_p.T228P|ARVCF_ENST00000401994.1_Missense_Mutation_p.T165P|ARVCF_ENST00000406522.1_Missense_Mutation_p.T165P|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	228					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T228P(1)		NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCAGGCAGTGTGAAGCAGCCA	0.721																																						uc002zqz.2																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(682-684)ACA>CCA		armadillo repeat protein							5.0	6.0	6.0					22																	19968948		2096	4128	6224	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19968948T>G		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.682A>C	22.37:g.19968948T>G	ENSP00000263207:p.Thr228Pro					ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Missense_Mutation_p.T228P	p.T228P	NM_001670	NP_001661	O00192	ARVC_HUMAN			5	953	-	Colorectal(54;0.0993)		228					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.682A>C	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890568	0.72524	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.71	4.71	0.59529	.	0.505482	0.21306	N	0.076733	T	0.47229	0.1434	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.34104	-0.9842	9	.	.	.	-1.4831	14.6634	0.68891	0.0:0.0:0.0:1.0	.	228	O00192	ARVC_HUMAN	P	228;165;165;165;228	ENSP00000263207:T228P;ENSP00000342042:T165P;ENSP00000384341:T165P;ENSP00000384732:T165P;ENSP00000385444:T228P	.	T	-	1	0	ARVCF	18348948	1.000000	0.71417	0.988000	0.46212	0.821000	0.46438	4.307000	0.59123	2.116000	0.64780	0.533000	0.62120	ACA		PASS	0.721	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		5	6	5	6	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37333595	37333595	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr22:37333595A>T	ENST00000403662.3	+	14	1967	c.1745A>T	c.(1744-1746)aAa>aTa	p.K582I	CSF2RB_ENST00000406230.1_Missense_Mutation_p.K588I|CSF2RB_ENST00000536485.1_Missense_Mutation_p.K529I|CSF2RB_ENST00000262825.5_Missense_Mutation_p.K588I			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	582					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.K582I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ACACCTGAGAAACAGGCTTCC	0.677																																						uc003aqa.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(1744-1746)AAA>ATA		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						19.0	21.0	20.0					22																	37333595		2201	4298	6499	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333595A>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1745A>T	22.37:g.37333595A>T	ENSP00000384053:p.Lys582Ile					CSF2RB_uc003aqc.3_Missense_Mutation_p.K588I	p.K582I	NM_000395	NP_000386	P32927	IL3RB_HUMAN			14	1962	+			582			Cytoplasmic (Potential).		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.1745A>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749458	0.30955	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92348	-2.51;-3.02;-3.02;-3.02	4.83	-2.93	0.05598	.	1.546800	0.03872	N	0.275757	D	0.84311	0.5444	N	0.24115	0.695	0.09310	N	1	B;B	0.31968	0.349;0.346	B;B	0.30495	0.116;0.049	T	0.74432	-0.3667	10	0.48119	T	0.1	-3.1936	5.638	0.17548	0.5975:0.1506:0.2519:0.0	.	588;582	P32927-2;P32927	.;IL3RB_HUMAN	I	582;582;588;588;529	ENSP00000384053:K582I;ENSP00000262825:K588I;ENSP00000385271:K588I;ENSP00000440003:K529I	ENSP00000262825:K588I	K	+	2	0	CSF2RB	35663541	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.201000	0.17276	-0.380000	0.07894	-0.379000	0.06801	AAA		PASS	0.677	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		6	18	6	18	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212770	26212770	+	Silent	SNP	C	C	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrX:26212770C>T	ENST00000379034.1	+	2	956	c.807C>T	c.(805-807)ggC>ggT	p.G269G		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	269	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G269G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCAAGCTAGGCCTCCCCAGTG	0.527																																						uc004dbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(805-807)GGC>GGT		melanoma antigen family B, 6							104.0	90.0	95.0					X																	26212770		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212770C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.807C>T	X.37:g.26212770C>T						MAGEB6_uc010ngc.1_Silent_p.G49G	p.G269G	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	956	+			269			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.807C>T	CCDS14217.1																																																																																				PASS	0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		52	61	52	61	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44937643	44937643	+	Splice_Site	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrX:44937643A>G	ENST00000377967.4	+	19	2873		c.e19-1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTAATTTTACAGTTGGAAAAT	0.308			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		7	Whole gene deletion(6)|Unknown(1)		oesophagus(2)|breast(2)|pancreas(2)|lung(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.e19-2		ubiquitously transcribed tetratricopeptide							84.0	74.0	77.0					X																	44937643		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44937643A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2833-1A>G	X.37:g.44937643A>G						KDM6A_uc010nhk.2_Splice_Site_p.L911_splice|KDM6A_uc011mkz.1_Splice_Site_p.L997_splice|KDM6A_uc011mla.1_Splice_Site_p.L900_splice|KDM6A_uc011mlb.1_Splice_Site_p.L952_splice|KDM6A_uc011mlc.1_Splice_Site_p.L649_splice|KDM6A_uc011mld.1_Splice_Site_p.L584_splice	p.L945_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			19	3208	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37	c.2833_splice	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182309	0.78677	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5005	0.67719	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44822587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.804000	0.52760	0.441000	0.28932	.		PASS	0.308	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	33	29	33	29	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53230856	53230856	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrX:53230856T>A	ENST00000375401.3	-	14	2469	c.1937A>T	c.(1936-1938)gAg>gTg	p.E646V	KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000404049.3_Missense_Mutation_p.E645V|KDM5C_ENST00000452825.3_Missense_Mutation_p.E579V|KDM5C_ENST00000375383.3_Missense_Mutation_p.E605V|KDM5C_ENST00000375379.3_Missense_Mutation_p.E646V	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	646					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E646V(1)|p.E579V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCAGATAAGCTCCTCATGGGA	0.582			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2				Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		2	Substitution - Missense(2)	p.E645_E646>D*(1)	lung(2)	kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(1936-1938)GAG>GTG		jumonji, AT rich interactive domain 1C isoform							66.0	58.0	61.0					X																	53230856		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53230856T>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1937A>T	X.37:g.53230856T>A	ENSP00000364550:p.Glu646Val					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.E579V|KDM5C_uc004dsa.2_Missense_Mutation_p.E645V	p.E646V	NM_004187	NP_004178	P41229	KDM5C_HUMAN			14	2470	-			646					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1937A>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814309	0.70912	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.58	5.58	0.84498	.	0.107851	0.64402	D	0.000008	T	0.80788	0.4690	M	0.90198	3.095	0.80722	D	1	P;P;P	0.45827	0.803;0.867;0.867	P;P;P	0.48654	0.571;0.484;0.585	D	0.84750	0.0756	10	0.87932	D	0	-12.1352	12.5278	0.56096	0.0:0.0:0.0:1.0	.	579;645;646	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	V	579;646;645;646;605	ENSP00000445176:E579V;ENSP00000364550:E646V;ENSP00000385394:E645V;ENSP00000364528:E646V;ENSP00000364532:E605V	ENSP00000364528:E646V	E	-	2	0	KDM5C	53247581	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	8.040000	0.89188	1.864000	0.54056	0.486000	0.48141	GAG		PASS	0.582	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		16	20	16	20	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73063516	73063516	+	lincRNA	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrX:73063516G>T	ENST00000429829.1	-	0	9072					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACAGGAACATGCTTAGAGAAT	0.413																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							48.0	44.0	45.0					X																	73063516		876	1991	2867			7503							g.chrX:73063516G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063516G>T								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.9073C>A																																																																																					PASS	0.413	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		23	28	23	28	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79286183	79286183	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrX:79286183A>G	ENST00000373294.5	+	8	1164	c.1136A>G	c.(1135-1137)aAt>aGt	p.N379S	TBX22_ENST00000373296.3_Missense_Mutation_p.N379S|TBX22_ENST00000373291.1_Missense_Mutation_p.N259S|TBX22_ENST00000442340.1_Missense_Mutation_p.N259S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	379					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N379S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCCAACTAATTTTTGGCAA	0.468																																						uc010nmg.1																			1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1135-1137)AAT>AGT		T-box 22 isoform 1							184.0	169.0	174.0					X																	79286183		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286183A>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1136A>G	X.37:g.79286183A>G	ENSP00000362390:p.Asn379Ser					TBX22_uc004edi.1_Missense_Mutation_p.N259S|TBX22_uc004edj.1_Missense_Mutation_p.N379S	p.N379S	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1270	+			379					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1136A>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	a	4.128	0.021935	0.08006	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	4.63	2.27	0.28462	.	7739.210000	0.00166	N	0.000000	T	0.75598	0.3871	M	0.64997	1.995	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.51903	-0.8646	10	0.06365	T	0.9	.	6.3105	0.21163	0.6989:0.0:0.3011:0.0	.	379	Q9Y458	TBX22_HUMAN	S	379;259;379;259	ENSP00000362393:N379S;ENSP00000396394:N259S;ENSP00000362390:N379S;ENSP00000362388:N259S	ENSP00000362388:N259S	N	+	2	0	TBX22	79172839	0.971000	0.33674	0.637000	0.29366	0.951000	0.60555	1.692000	0.37731	0.486000	0.27676	0.414000	0.27820	AAT		PASS	0.468	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		57	90	57	90	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151869721	151869721	+	Silent	SNP	G	G	T			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrX:151869721G>T	ENST00000329342.5	+	3	636	c.411G>T	c.(409-411)ggG>ggT	p.G137G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	137	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G137G(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCTGGGGAGTGTCGTCG	0.517																																						uc004ffq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(409-411)GGG>GGT		melanoma antigen family A, 6							150.0	137.0	141.0					X																	151869721		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869721G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.411G>T	X.37:g.151869721G>T						MAGEA6_uc004ffr.1_Silent_p.G137G|MAGEA2_uc010nto.2_Intron	p.G137G	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	605	+	Acute lymphoblastic leukemia(192;6.56e-05)		137			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.411G>T	CCDS14708.1																																																																																				PASS	0.517	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		22	116	22	116	---	---	---	---
TSPY1	7258	broad.mit.edu	37	Y	9305917	9305917	+	Silent	SNP	A	A	G			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrY:9305917A>G	ENST00000451548.1	+	3	619	c.573A>G	c.(571-573)gaA>gaG	p.E191E	TSPY1_ENST00000423647.2_Silent_p.E197E|AC006156.1_ENST00000450145.1_Intron|AC006156.1_ENST00000423213.1_Intron|TSPY3_ENST00000440483.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1	191					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E191E(1)		lung(4)	4						AGGTGGGAGAAGAGAAGCATC	0.448																																						uc004frw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(571-573)GAA>GAG		testis specific protein, Y-linked 1							54.0	47.0	48.0					Y																	9305917		579	1875	2454	SO:0001819	synonymous_variant	7258				cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding	g.chrY:9305917A>G		CCDS48205.1, CCDS76071.1	Yp11.2	2009-08-06	2004-04-05	2004-04-07					12381	protein-coding gene	gene with protein product	"""cancer/testis antigen 78"""	480100	"""testis specific protein, Y-linked"""	TSPY			Standard	NM_003308		Approved	CT78	uc004frw.4	Q01534		ENST00000451548.1:c.573A>G	Y.37:g.9305917A>G						TSPY1_uc004frx.3_Silent_p.E191E|TSPY1_uc010nwp.1_Intron	p.E191E	NM_003308	NP_003299	Q01534	TSPY1_HUMAN			3	619	+			191					A6NJD2|O00216|P09002|Q0VAD3|Q9UNN7	Silent	SNP	ENST00000451548.1	37	c.573A>G	CCDS48205.1																																																																																				PASS	0.448	TSPY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413463.1	NM_003308		62	531	62	531	---	---	---	---
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	IGR	INS	-	-	CC	rs555281269|rs112237068	byFrequency	TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chr3:21447901_21447902insCC								AC104183.1 (17792 upstream) : RP11-180N14.1 (5811 downstream)																							CTGGCATACCACCCCCCACGCC	0.663														2183	0.435903	0.5038	0.3141	5008	,	,		12635	0.3998		0.503	False		,,,				2504	0.3988					uc003ccd.2																			0					0								Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA.																																				SO:0001628	intergenic_variant	391518							g.chr3:21447901_21447902insCC																													3.37:g.21447906_21447907dupCC								NR_002311						1		+									RNA	INS		37	c.684_685insCC																																																																																				0		0.663									5	5	5	5	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110967050	110967052	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrX:110967050_110967052delTAT	ENST00000394780.3	+	14	1537_1539	c.1525_1527delTAT	c.(1525-1527)tatdel	p.Y510del	ALG13_ENST00000251943.4_In_Frame_Del_p.Y406del	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	510	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AGAAGGAAGATATTATAATGCTC	0.35																																						uc011msy.1																			0				lung(1)	1						c.(1525-1527)TATdel		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);																																				SO:0001651	inframe_deletion	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110967050_110967052delTAT	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1525_1527delTAT	X.37:g.110967053_110967055delTAT	ENSP00000378260:p.Tyr510del					ALG13_uc011msx.1_In_Frame_Del_p.Y406del|ALG13_uc011msz.1_In_Frame_Del_p.Y432del|ALG13_uc011mta.1_In_Frame_Del_p.Y406del|ALG13_uc011mtb.1_In_Frame_Del_p.Y406del	p.Y510del			Q9NP73	ALG13_HUMAN			14	1559_1561	+			510			Tudor.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	In_Frame_Del	DEL	ENST00000394780.3	37	c.1525_1527delTAT	CCDS55477.1																																																																																					0.350	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		6	4	6	4	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153592424	153592425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-60-2724-01A-01D-1522-08	TCGA-60-2724-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	387c6519-6529-4074-a5ab-00f8052a5732	e54d3ecf-0e9e-4718-9038-3c5b78b0fd8c	g.chrX:153592424_153592425insA	ENST00000369850.3	-	15	2481_2482	c.2245_2246insT	c.(2245-2247)tggfs	p.W749fs	FLNA_ENST00000360319.4_Frame_Shift_Ins_p.W749fs|FLNA_ENST00000422373.1_Frame_Shift_Ins_p.W749fs|FLNA_ENST00000344736.4_Frame_Shift_Ins_p.W749fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	749					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACGCCTCCCCAGGACACCATG	0.594																																						uc004fkk.2																			0				breast(6)	6						c.(2245-2247)TGGfs		filamin A, alpha isoform 2																																				SO:0001589	frameshift_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592424_153592425insA	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2246dupT	X.37:g.153592425_153592425dupA	ENSP00000358866:p.Trp749fs					FLNA_uc010nuu.1_Frame_Shift_Ins_p.W749fs	p.W749fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			15	2494_2495	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		749			Filamin 5.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Ins	INS	ENST00000369850.3	37	c.2245_2246insT	CCDS48194.1																																																																																					0.594	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			88	60	88	60	---	---	---	---
