#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
TAS1R1	80835	broad.mit.edu	37	1	6639480	6639480	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:6639480C>T	ENST00000333172.6	+	6	2555	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L534L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	788					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.L788L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CGGCAAGTACCTGCCTGCGGC	0.582																																						uc001ant.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2362-2364)CTG>TTG		sweet taste receptor T1r isoform b							108.0	94.0	99.0					1																	6639480		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639480C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2362C>T	1.37:g.6639480C>T						TAS1R1_uc001anu.2_Silent_p.L534L|TAS1R1_uc001anv.2_Silent_p.T319T|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.L788L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2362	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	788			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.2362C>T	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	0.233	-1.019341	0.02078	.	.	ENSG00000173662	ENST00000415267	.	.	.	5.18	3.23	0.37069	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.23834	N	0.996716	.	.	.	.	.	.	T	0.19877	-1.0292	4	.	.	.	.	8.689	0.34256	0.2549:0.4655:0.2796:0.0	.	.	.	.	L	245	.	.	P	+	2	0	TAS1R1	6562067	0.000000	0.05858	0.077000	0.20336	0.067000	0.16453	-0.317000	0.08060	1.184000	0.42957	-0.189000	0.12847	CCT		PASS	0.582	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			11	55	11	55	---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10165736	10165736	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:10165736G>A	ENST00000253251.8	+	6	1582	c.743G>A	c.(742-744)gGc>gAc	p.G248D	UBE4B_ENST00000343090.6_Missense_Mutation_p.G248D|UBE4B_ENST00000377157.3_Missense_Mutation_p.G132D					ubiquitination factor E4B									p.G248D(2)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTAAACACTGGCTCCAATCCA	0.507																																						uc001aqs.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(742-744)GGC>GAC		ubiquitination factor E4B isoform 1							150.0	119.0	129.0					1																	10165736		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10165736G>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.743G>A	1.37:g.10165736G>A	ENSP00000253251:p.Gly248Asp					UBE4B_uc001aqr.3_Missense_Mutation_p.G248D|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	p.G248D	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	6	1456	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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)	248						Missense_Mutation	SNP	ENST00000253251.8	37	c.743G>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820364	0.32145	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.46451	0.93;0.93;0.87	5.63	5.63	0.86233	.	0.165306	0.52532	D	0.000062	T	0.33294	0.0858	N	0.22421	0.69	0.43211	D	0.995073	B;P	0.41131	0.012;0.739	B;B	0.43728	0.016;0.429	T	0.04522	-1.0945	10	0.12430	T	0.62	-17.5392	15.2033	0.73157	0.0:0.1402:0.8598:0.0	.	248;248	O95155;O95155-2	UBE4B_HUMAN;.	D	248;132;248	ENSP00000253251:G248D;ENSP00000366362:G132D;ENSP00000343001:G248D	ENSP00000253251:G248D	G	+	2	0	UBE4B	10088323	1.000000	0.71417	0.982000	0.44146	0.865000	0.49528	5.434000	0.66526	2.644000	0.89710	0.563000	0.77884	GGC		PASS	0.507	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		35	113	35	113	---	---	---	---
EXOSC10	5394	broad.mit.edu	37	1	11137693	11137693	+	Nonsense_Mutation	SNP	C	C	A	rs373219143		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:11137693C>A	ENST00000376936.4	-	15	1814	c.1765G>T	c.(1765-1767)Gga>Tga	p.G589*	EXOSC10_ENST00000544779.1_Nonsense_Mutation_p.G589*|EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.G589*	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	589					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G589*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTCTTCACTCCGGCTGCAACT	0.532																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1765-1767)GGA>TGA		exosome component 10 isoform 1							68.0	68.0	68.0					1																	11137693		2203	4300	6503	SO:0001587	stop_gained	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11137693C>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1765G>T	1.37:g.11137693C>A	ENSP00000366135:p.Gly589*					EXOSC10_uc001asb.2_Nonsense_Mutation_p.G589*	p.G589*	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	15	1815	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	589					B1AKQ0|B1AKQ1|Q15158	Nonsense_Mutation	SNP	ENST00000376936.4	37	c.1765G>T	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001381	0.97189	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	4.93	4.93	0.64822	.	0.342720	0.31897	N	0.006897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-23.9974	9.4708	0.38842	0.0:0.8358:0.0:0.1642	.	.	.	.	X	589	.	ENSP00000307307:G589X	G	-	1	0	EXOSC10	11060280	0.162000	0.22906	0.737000	0.30932	0.604000	0.37047	1.083000	0.30815	2.430000	0.82344	0.563000	0.77884	GGA		PASS	0.532	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		16	55	16	55	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22176642	22176642	+	Silent	SNP	C	C	T	rs141160393		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:22176642C>T	ENST00000374695.3	-	57	7417	c.7338G>A	c.(7336-7338)tcG>tcA	p.S2446S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2446	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S2446S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGCCACTTGCGAAGACGATG	0.662																																						uc001bfj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(7336-7338)TCG>TCA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)	C		1,4405	2.1+/-5.4	0,1,2202	52.0	57.0	55.0		7338	-10.6	0.1	1	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2446/4392	22176642	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176642C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7338G>A	1.37:g.22176642C>T						HSPG2_uc009vqd.2_Silent_p.S2447S	p.S2446S	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	57	7378	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2446			Ig-like C2-type 10.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.7338G>A	CCDS30625.1																																																																																				PASS	0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		32	96	32	96	---	---	---	---
CLIC4	25932	broad.mit.edu	37	1	25124287	25124287	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:25124287A>G	ENST00000374379.4	+	2	324	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	43	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.M43V(1)		large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GAGGCTCTTCATGATTCTTTG	0.408																																						uc001bjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)ATG>GTG		chloride intracellular channel 4							131.0	132.0	132.0					1																	25124287		2203	4300	6503	SO:0001583	missense	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25124287A>G	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.127A>G	1.37:g.25124287A>G	ENSP00000363500:p.Met43Val					CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Missense_Mutation_p.M23V	p.M43V	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	2	412	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	43			Required for insertion into the membrane (Probable).|Helical; Note=After insertion into the membrane; (Potential).		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	37	c.127A>G	CCDS256.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220102	0.79464	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.22539	1.95	5.96	5.96	0.96718	Thioredoxin-like fold (2);	0.073516	0.85682	D	0.000000	T	0.31638	0.0803	L	0.48986	1.54	0.50039	D	0.999841	P;P	0.43578	0.729;0.811	P;B	0.48227	0.571;0.409	T	0.02184	-1.1199	10	0.87932	D	0	-24.5308	16.098	0.81144	1.0:0.0:0.0:0.0	.	23;43	B3KTR3;Q9Y696	.;CLIC4_HUMAN	V	43	ENSP00000363500:M43V	ENSP00000363500:M43V	M	+	1	0	CLIC4	24996874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.899000	0.92544	2.283000	0.76528	0.533000	0.62120	ATG		PASS	0.408	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		24	84	24	84	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45500116	45500116	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:45500116A>T	ENST00000359600.5	-	11	2522	c.2317T>A	c.(2317-2319)Tct>Act	p.S773T	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	773						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.S773T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCGCCTGCAGAAGCTGAGTTT	0.537																																						uc001cnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2317-2319)TCT>ACT		zinc finger, SWIM domain containing 5							94.0	94.0	94.0					1																	45500116		1978	4157	6135	SO:0001583	missense	57643						zinc ion binding	g.chr1:45500116A>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2317T>A	1.37:g.45500116A>T	ENSP00000352614:p.Ser773Thr						p.S773T	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			11	2545	-	Acute lymphoblastic leukemia(166;0.155)		773					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2317T>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	a	15.86	2.959156	0.53400	.	.	ENSG00000162415	ENST00000359600	T	0.44482	0.92	4.56	2.21	0.28008	.	0.306608	0.34828	N	0.003645	T	0.25644	0.0624	N	0.22421	0.69	0.31773	N	0.631827	P	0.39060	0.657	B	0.40565	0.333	T	0.21280	-1.0250	10	0.48119	T	0.1	-5.1806	3.6415	0.08169	0.5788:0.2037:0.2175:0.0	.	773	Q9P217	ZSWM5_HUMAN	T	773	ENSP00000352614:S773T	ENSP00000352614:S773T	S	-	1	0	ZSWIM5	45272703	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	1.708000	0.37899	0.817000	0.34445	0.460000	0.39030	TCT		PASS	0.537	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		34	129	34	129	---	---	---	---
LRRC42	115353	broad.mit.edu	37	1	54433427	54433427	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:54433427G>C	ENST00000371370.3	+	9	1623	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	LRRC42_ENST00000319223.4_Missense_Mutation_p.E368Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	368								p.E368Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GTTCTATAAAGAGAAAGCCCC	0.507																																						uc001cwj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)GAG>CAG		leucine rich repeat containing 42							56.0	55.0	56.0					1																	54433427		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54433427G>C	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.1102G>C	1.37:g.54433427G>C	ENSP00000360421:p.Glu368Gln					LRRC42_uc001cwl.1_Missense_Mutation_p.E368Q|LRRC42_uc001cwk.1_Missense_Mutation_p.E368Q|LRRC42_uc009vzm.1_Missense_Mutation_p.E364Q	p.E368Q	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN			8	1302	+			368					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.1102G>C	CCDS585.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527687	0.44969	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	.	.	.	5.74	5.74	0.90152	.	0.267884	0.36854	N	0.002365	T	0.30324	0.0761	N	0.19112	0.55	0.40311	D	0.97871	P	0.43750	0.816	B	0.39706	0.307	T	0.07751	-1.0756	9	0.19147	T	0.46	-24.9463	10.3455	0.43903	0.1452:0.0:0.8548:0.0	.	368	Q9Y546	LRC42_HUMAN	Q	368	.	ENSP00000318185:E368Q	E	+	1	0	LRRC42	54206015	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.545000	0.60698	2.707000	0.92482	0.655000	0.94253	GAG		PASS	0.507	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		23	65	23	65	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79383662	79383662	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:79383662C>G	ENST00000370742.3	-	11	1598	c.1535G>C	c.(1534-1536)gGc>gCc	p.G512A		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	512					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G512A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAGATGTATGCCTTCAATGCA	0.378																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1534-1536)GGC>GCC		EGF, latrophilin and seven transmembrane domain							142.0	134.0	136.0					1																	79383662		1882	4114	5996	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383662C>G	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1535G>C	1.37:g.79383662C>G	ENSP00000359778:p.Gly512Ala						p.G512A	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1691	-			512			Helical; Name=3; (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1535G>C	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883804	0.91814	.	.	ENSG00000162618	ENST00000370742	T	0.56103	0.48	6.08	6.08	0.98989	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	L	0.58669	1.825	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.59032	-0.7530	9	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	512	Q9HBW9	ELTD1_HUMAN	A	512	ENSP00000359778:G512A	.	G	-	2	0	ELTD1	79156250	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GGC		PASS	0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		42	173	42	173	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92430225	92430225	+	Silent	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:92430225A>T	ENST00000362005.3	+	4	652	c.234A>T	c.(232-234)acA>acT	p.T78T	BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Silent_p.T78T|BRDT_ENST00000402388.1_Silent_p.T78T|BRDT_ENST00000370389.2_Silent_p.T5T	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	78	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.T78T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATTTAAATACAATTAAGAAGC	0.264																																						uc001dok.3																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|ovary(1)|lung(1)	4						c.(232-234)ACA>ACT		testis-specific bromodomain protein							24.0	26.0	26.0					1																	92430225		2177	4264	6441	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430225A>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.234A>T	1.37:g.92430225A>T						BRDT_uc001dol.3_Silent_p.T78T|BRDT_uc010osz.1_Silent_p.T78T|BRDT_uc009wdf.2_Silent_p.T5T|BRDT_uc010ota.1_Intron|BRDT_uc010otb.1_Intron|BRDT_uc001dom.3_Silent_p.T78T	p.T78T	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	3	583	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	78			Bromo 1.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.234A>T	CCDS735.1																																																																																				PASS	0.264	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		20	59	20	59	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103481245	103481245	+	Silent	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:103481245A>T	ENST00000370096.3	-	12	1779	c.1467T>A	c.(1465-1467)ccT>ccA	p.P489P	COL11A1_ENST00000512756.1_Silent_p.P373P|COL11A1_ENST00000353414.4_Silent_p.P450P|COL11A1_ENST00000358392.2_Silent_p.P501P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	489	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P501P(1)|p.P489P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATAGTACCAGGAGGACCAG	0.358																																						uc001dul.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1465-1467)CCT>CCA		alpha 1 type XI collagen isoform A							38.0	37.0	37.0					1																	103481245		2203	4298	6501	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103481245A>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1467T>A	1.37:g.103481245A>T						COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.P501P|COL11A1_uc001dun.2_Silent_p.P450P|COL11A1_uc009weh.2_Silent_p.P373P	p.P489P	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	12	1785	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	489			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1467T>A	CCDS778.1																																																																																				PASS	0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	20	4	20	---	---	---	---
KCNC4	3749	broad.mit.edu	37	1	110765934	110765934	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:110765934C>T	ENST00000369787.3	+	2	1054	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.L343L|KCNC4_ENST00000438661.2_Silent_p.L343L	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	343					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.L343L(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGCGACGTGCTGGGCTTCCT	0.642																																						uc001dzh.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1027-1029)CTG>TTG		Shaw-related voltage-gated potassium channel							83.0	72.0	76.0					1																	110765934		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110765934C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1027C>T	1.37:g.110765934C>T						KCNC4_uc001dzf.2_Silent_p.L343L|KCNC4_uc009wfr.2_Silent_p.L343L|KCNC4_uc001dzg.2_Silent_p.L343L|KCNC4_uc001dzi.2_RNA	p.L343L	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	1084	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	343					Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.1027C>T	CCDS821.1																																																																																				PASS	0.642	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		9	43	9	43	---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112318854	112318854	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:112318854A>T	ENST00000315987.2	-	8	2292	c.1813T>A	c.(1813-1815)Tgc>Agc	p.C605S	KCND3_ENST00000302127.4_Missense_Mutation_p.C586S|KCND3_ENST00000369697.1_Missense_Mutation_p.C586S	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	605					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.C586S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GATGTTTTGCAGTTTGGTCTC	0.577																																						uc001ebu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1813-1815)TGC>AGC		potassium voltage-gated channel, Shal-related							140.0	120.0	127.0					1																	112318854		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112318854A>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1813T>A	1.37:g.112318854A>T	ENSP00000319591:p.Cys605Ser					KCND3_uc001ebv.1_Missense_Mutation_p.C586S	p.C605S	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	8	2293	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	605			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1813T>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759485	0.49468	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97279	-4.32;-4.27;-4.32	5.63	5.63	0.86233	.	0.041282	0.85682	D	0.000000	D	0.94006	0.8080	L	0.54323	1.7	0.80722	D	1	B;B	0.22800	0.044;0.075	B;B	0.24006	0.027;0.05	D	0.92555	0.6053	10	0.62326	D	0.03	.	15.7952	0.78404	1.0:0.0:0.0:0.0	.	586;605	Q14D71;Q9UK17	.;KCND3_HUMAN	S	586;605;586	ENSP00000358711:C586S;ENSP00000319591:C605S;ENSP00000306923:C586S	ENSP00000306923:C586S	C	-	1	0	KCND3	112120377	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.038000	0.76537	2.271000	0.75665	0.533000	0.62120	TGC		PASS	0.577	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		18	56	18	56	---	---	---	---
OR10K2	391107	broad.mit.edu	37	1	158390635	158390635	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:158390635C>G	ENST00000314902.2	-	1	21	c.22G>C	c.(22-24)Gtg>Ctg	p.V8L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V8L(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TCTCTCACCACAGTCTCATTG	0.502																																						uc010pii.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(22-24)GTG>CTG		olfactory receptor, family 10, subfamily K,							52.0	45.0	47.0					1																	158390635		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390635C>G	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.22G>C	1.37:g.158390635C>G	ENSP00000324251:p.Val8Leu						p.V8L	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	22	-	all_hematologic(112;0.0378)		8			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000314902.2	37	c.22G>C	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.289104	0.01387	.	.	ENSG00000180708	ENST00000314902	T	0.19105	2.17	4.1	-0.506	0.11989	.	1.608990	0.04041	N	0.303067	T	0.02267	0.0070	N	0.16266	0.395	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22871	-1.0204	10	0.07030	T	0.85	.	1.1628	0.01809	0.1747:0.3284:0.2993:0.1975	.	8	Q6IF99	O10K2_HUMAN	L	8	ENSP00000324251:V8L	ENSP00000324251:V8L	V	-	1	0	OR10K2	156657259	0.000000	0.05858	0.001000	0.08648	0.858000	0.48976	-3.373000	0.00493	-0.207000	0.10187	0.467000	0.42956	GTG		PASS	0.502	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		16	77	16	77	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158908929	158908929	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:158908929G>A	ENST00000368140.1	+	4	716	c.471G>A	c.(469-471)gaG>gaA	p.E157E	PYHIN1_ENST00000392252.3_Silent_p.E148E|PYHIN1_ENST00000368138.3_Silent_p.E148E|PYHIN1_ENST00000368135.4_Silent_p.E157E|PYHIN1_ENST00000392254.2_Silent_p.E157E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	157					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.E157E(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGTCCAAAGAGCAGACTCGGC	0.478																																						uc001ftb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(469-471)GAG>GAA		pyrin and HIN domain family, member 1 alpha 1							104.0	95.0	98.0					1																	158908929		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158908929G>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.471G>A	1.37:g.158908929G>A						PYHIN1_uc001fta.3_Silent_p.E157E|PYHIN1_uc001ftc.2_Silent_p.E148E|PYHIN1_uc001ftd.2_Silent_p.E157E|PYHIN1_uc001fte.2_Silent_p.E148E	p.E157E	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			4	716	+	all_hematologic(112;0.0378)		157					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.471G>A	CCDS1178.1																																																																																				PASS	0.478	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		26	99	26	99	---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818285	166818285	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:166818285G>T	ENST00000367875.1	+	5	829	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	POGK_ENST00000536514.1_Missense_Mutation_p.D72Y|POGK_ENST00000367876.4_Missense_Mutation_p.D157Y|POGK_ENST00000537173.1_Missense_Mutation_p.D39Y			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	157					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D157Y(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCTGCCTCGGGATATCACAGA	0.557																																					GBM(76;192 1530 30153 48742)	uc001gdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)GAT>TAT		pogo transposable element with KRAB domain							104.0	99.0	101.0					1																	166818285		2203	4300	6503	SO:0001583	missense	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818285G>T	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.469G>T	1.37:g.166818285G>T	ENSP00000356849:p.Asp157Tyr					POGK_uc010ple.1_Missense_Mutation_p.D72Y|POGK_uc010plf.1_Missense_Mutation_p.D39Y	p.D157Y	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	589	+			157					Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	c.469G>T	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650515	0.29336	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.33438	1.44;1.41;4.33;4.5;4.5	5.3	4.37	0.52481	.	0.000000	0.50627	D	0.000107	T	0.27454	0.0674	N	0.24115	0.695	0.34900	D	0.746398	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.993;0.993	T	0.24905	-1.0147	9	0.87932	D	0	-27.377	10.9821	0.47501	0.0:0.0:0.8139:0.1861	.	39;72;157	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	Y	39;72;157;157;157	ENSP00000442763:D39Y;ENSP00000441187:D72Y;ENSP00000404402:D157Y;ENSP00000356850:D157Y;ENSP00000356849:D157Y	ENSP00000356849:D157Y	D	+	1	0	POGK	165084909	0.478000	0.25917	0.122000	0.21767	0.961000	0.63080	2.532000	0.45659	1.425000	0.47237	0.655000	0.94253	GAT		PASS	0.557	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		59	83	59	83	---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180199735	180199735	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:180199735T>G	ENST00000263726.2	+	1	315	c.71T>G	c.(70-72)aTg>aGg	p.M24R		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	24					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|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.M24R(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGTGTGCCGATGCAACGTAAG	0.637																																						uc001goe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)ATG>AGG		LIM homeobox protein 4							55.0	52.0	53.0					1																	180199735		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180199735T>G	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.71T>G	1.37:g.180199735T>G	ENSP00000263726:p.Met24Arg						p.M24R	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			1	294	+			24					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.71T>G	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319738	0.60524	.	.	ENSG00000121454	ENST00000263726	D	0.88509	-2.39	5.54	5.54	0.83059	.	0.321947	0.32719	N	0.005737	T	0.78616	0.4311	N	0.11560	0.145	0.46631	D	0.999133	B	0.18863	0.031	B	0.06405	0.002	T	0.73685	-0.3905	10	0.24483	T	0.36	.	14.6412	0.68726	0.0:0.0:0.0:1.0	.	24	Q969G2	LHX4_HUMAN	R	24	ENSP00000263726:M24R	ENSP00000263726:M24R	M	+	2	0	LHX4	178466358	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.396000	0.66297	2.110000	0.64415	0.379000	0.24179	ATG		PASS	0.637	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		21	37	21	37	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186330008	186330008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:186330008C>A	ENST00000367478.4	-	10	1284	c.988G>T	c.(988-990)Gag>Tag	p.E330*	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	330					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E331*(1)|p.E330*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGCTCCACCTCTAGAAGATGA	0.323			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Nonsense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(988-990)GAG>TAG		nuclear pore complex-associated protein TPR							124.0	108.0	113.0					1																	186330008		1827	4073	5900	SO:0001587	stop_gained	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186330008C>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.988G>T	1.37:g.186330008C>A	ENSP00000356448:p.Glu330*					TPR_uc010pop.1_Nonsense_Mutation_p.E406*	p.E330*	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	10	1285	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	330			Potential.		Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	c.988G>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	39	7.564744	0.98361	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.59	4.66	0.58398	.	0.098483	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	13.8767	0.63657	0.0:0.6976:0.3024:0.0	.	.	.	.	X	330	.	ENSP00000356448:E330X	E	-	1	0	TPR	184596631	0.993000	0.37304	0.930000	0.37139	0.950000	0.60333	2.960000	0.49161	1.317000	0.45149	0.655000	0.94253	GAG		PASS	0.323	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		32	77	32	77	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190423959	190423959	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:190423959A>T	ENST00000367462.3	-	2	293	c.62T>A	c.(61-63)aTa>aAa	p.I21K	BRINP3_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	21					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.I21K(1)									ACTCAGTGCTATCCACTCCCA	0.512																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(61-63)ATA>AAA		family with sequence similarity 5, member C							83.0	81.0	82.0					1																	190423959		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190423959A>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.62T>A	1.37:g.190423959A>T	ENSP00000356432:p.Ile21Lys					FAM5C_uc010pot.1_5'UTR	p.I21K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			2	294	-	Prostate(682;0.198)		21					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.62T>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405166	0.62288	.	.	ENSG00000162670	ENST00000367462;ENST00000445957	T;T	0.51325	2.29;0.71	5.57	5.57	0.84162	.	0.130821	0.53938	D	0.000051	T	0.35711	0.0941	N	0.24115	0.695	0.80722	D	1	B	0.23650	0.089	B	0.18871	0.023	T	0.20438	-1.0275	10	0.72032	D	0.01	.	13.6909	0.62544	1.0:0.0:0.0:0.0	.	21	Q76B58	FAM5C_HUMAN	K	21	ENSP00000356432:I21K;ENSP00000393441:I21K	ENSP00000356432:I21K	I	-	2	0	FAM5C	188690582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.918000	0.69996	2.119000	0.64992	0.533000	0.62120	ATA		PASS	0.512	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		38	36	38	36	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196965150	196965150	+	Splice_Site	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:196965150A>T	ENST00000256785.4	+	6	899		c.e6-1		CFHR5_ENST00000367414.5_Splice_Site			Q9BXR6	FHR5_HUMAN	complement factor H-related 5						complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.?(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACATTTTCTTAGAACAAGTGA	0.343																																						uc001gts.3																			1	Unknown(1)		lung(1)	breast(1)|skin(1)	2						c.e6-2		complement factor H-related 5 precursor							93.0	92.0	92.0					1																	196965150		2203	4299	6502	SO:0001630	splice_region_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196965150A>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.791-1A>T	1.37:g.196965150A>T							p.E264_splice	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			6	919	+								Q2NKK2	Splice_Site	SNP	ENST00000256785.4	37	c.791_splice	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	8.661	0.900603	0.17686	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.03	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.38027	D	0.935029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8414	0.29400	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFHR5	195231773	0.526000	0.26298	0.004000	0.12327	0.003000	0.03518	2.015000	0.40961	1.145000	0.42336	0.363000	0.22086	.		PASS	0.343	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	Intron	47	191	47	191	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197021778	197021778	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:197021778A>G	ENST00000367412.1	-	9	1584	c.1541T>C	c.(1540-1542)tTa>tCa	p.L514S	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	514	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.L514S(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						TCTAGTACATAAAGGATATTT	0.318																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1540-1542)TTA>TCA		coagulation factor XIII B subunit precursor							72.0	73.0	73.0					1																	197021778		2202	4295	6497	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197021778A>G	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.1541T>C	1.37:g.197021778A>G	ENSP00000356382:p.Leu514Ser						p.L514S	NM_001994	NP_001985	P05160	F13B_HUMAN			9	1585	-			514			Sushi 8.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1541T>C	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.325502	0.01309	.	.	ENSG00000143278	ENST00000367412	D	0.82711	-1.64	5.32	1.49	0.22878	Complement control module (1);	1.826880	0.04007	N	0.297592	T	0.60340	0.2261	N	0.02916	-0.46	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.55431	-0.8142	10	0.13470	T	0.59	.	3.2778	0.06904	0.4083:0.0:0.296:0.2957	.	514	P05160	F13B_HUMAN	S	514	ENSP00000356382:L514S	ENSP00000356382:L514S	L	-	2	0	F13B	195288401	0.001000	0.12720	0.004000	0.12327	0.603000	0.37013	0.596000	0.24044	0.868000	0.35678	0.533000	0.62120	TTA		PASS	0.318	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		20	107	20	107	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197522157	197522157	+	Missense_Mutation	SNP	C	C	A	rs200625752		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:197522157C>A	ENST00000367396.3	-	16	1404	c.1235G>T	c.(1234-1236)tGt>tTt	p.C412F	DENND1B_ENST00000235453.4_Missense_Mutation_p.C382F|DENND1B_ENST00000400967.2_Missense_Mutation_p.C382F	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	412					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.C52F(1)|p.C412F(1)|p.C382F(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTTACCTCCACAAAAGCCACC	0.343																																						uc001guf.3																			3	Substitution - Missense(3)		lung(3)		0						c.(1234-1236)TGT>TTT		DENN/MADD domain containing 1B isoform 2							111.0	107.0	108.0					1																	197522157		1833	4088	5921	SO:0001583	missense	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197522157C>A	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1235G>T	1.37:g.197522157C>A	ENSP00000356366:p.Cys412Phe					DENND1B_uc010ppe.1_Missense_Mutation_p.C392F|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Missense_Mutation_p.C382F	p.C412F	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN			16	1573	-			412					B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	c.1235G>T	CCDS41452.2	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285865	0.59867	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T;T	0.32988	1.43;3.06;2.73;3.06	5.59	3.66	0.41972	.	0.138134	0.64402	D	0.000002	T	0.43853	0.1266	M	0.63428	1.95	0.40856	D	0.983792	P;P;P	0.50272	0.933;0.459;0.594	P;B;B	0.52066	0.689;0.212;0.382	T	0.48175	-0.9058	10	0.62326	D	0.03	-5.844	14.8525	0.70309	0.0:0.6999:0.3001:0.0	.	412;412;382	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	F	52;412;392;382;412;382	ENSP00000375839:C52F;ENSP00000235453:C382F;ENSP00000356366:C412F;ENSP00000383751:C382F	ENSP00000235453:C382F	C	-	2	0	DENND1B	195788780	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.007000	0.29860	0.769000	0.33313	0.650000	0.86243	TGT		PASS	0.343	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086539.1	NM_144977		41	105	41	105	---	---	---	---
LGR6	59352	broad.mit.edu	37	1	202273705	202273705	+	Silent	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:202273705C>A	ENST00000367278.3	+	11	1106	c.1017C>A	c.(1015-1017)ggC>ggA	p.G339G	LGR6_ENST00000439764.2_Silent_p.G200G|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.G287G	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	339					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.G339G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCCGCGCAGGCATCCGGCTGC	0.642																																						uc001gxu.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1015-1017)GGC>GGA		leucine-rich repeat-containing G protein-coupled							45.0	49.0	47.0					1																	202273705		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202273705C>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1017C>A	1.37:g.202273705C>A						LGR6_uc001gxv.2_Silent_p.G287G|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.G200G|LGR6_uc009xac.1_RNA	p.G339G	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			11	1017	+			339			LRR 11.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.1017C>A	CCDS30971.1																																																																																				PASS	0.642	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		14	70	14	70	---	---	---	---
SYT14	255928	broad.mit.edu	37	1	210273513	210273513	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:210273513A>T	ENST00000472886.1	+	6	885	c.871A>T	c.(871-873)Aac>Tac	p.N291Y	SYT14_ENST00000422431.1_Missense_Mutation_p.N336Y|SYT14_ENST00000367015.1_Missense_Mutation_p.N253Y|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.N291Y|SYT14_ENST00000399639.2_Missense_Mutation_p.N291Y|SYT14_ENST00000367019.1_Missense_Mutation_p.N291Y|SYT14_ENST00000537238.1_Missense_Mutation_p.N253Y			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	291	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.N291Y(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCCAACATATAACAGGACAGG	0.443																																						uc009xcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(871-873)AAC>TAC		synaptotagmin XIV isoform 4							114.0	101.0	105.0					1																	210273513		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210273513A>T	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.871A>T	1.37:g.210273513A>T	ENSP00000418901:p.Asn291Tyr					SYT14_uc001hhs.3_Missense_Mutation_p.N336Y|SYT14_uc001hht.3_Missense_Mutation_p.N291Y|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.N336Y|SYT14_uc010pso.1_Missense_Mutation_p.N253Y	p.N291Y	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	943	+			291			Cytoplasmic (Potential).|C2 1.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.871A>T	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424989	0.62733	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.97	5.97	0.96955	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093313	0.64402	D	0.000001	T	0.60209	0.2251	L	0.29908	0.895	0.45883	D	0.99873	B;B;B;B	0.31351	0.066;0.002;0.32;0.053	B;B;B;B	0.34931	0.098;0.038;0.192;0.059	T	0.62812	-0.6775	10	0.87932	D	0	-7.5737	16.4452	0.83925	1.0:0.0:0.0:0.0	.	319;291;291;336	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	Y	336;291;291;253;291;291;253	ENSP00000389039:N336Y;ENSP00000442891:N291Y;ENSP00000445837:N291Y;ENSP00000437423:N253Y;ENSP00000355986:N291Y;ENSP00000418901:N291Y;ENSP00000355982:N253Y	ENSP00000355982:N253Y	N	+	1	0	SYT14	208340136	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.514000	0.90545	2.281000	0.76405	0.528000	0.53228	AAC		PASS	0.443	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		32	133	32	133	---	---	---	---
NVL	4931	broad.mit.edu	37	1	224473776	224473776	+	Silent	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:224473776C>A	ENST00000281701.6	-	15	2110	c.1851G>T	c.(1849-1851)ggG>ggT	p.G617G	NVL_ENST00000469075.1_Silent_p.G526G|NVL_ENST00000391875.2_Silent_p.G511G|NVL_ENST00000482491.1_Silent_p.G341G|NVL_ENST00000361463.3_Silent_p.G511G|NVL_ENST00000340871.4_Silent_p.G428G	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	617						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.G617G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CAAGGAGGACCCCAGCTGGAG	0.453																																						uc001hok.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1849-1851)GGG>GGT		nuclear VCP-like isoform 1							83.0	76.0	78.0					1																	224473776		2203	4300	6503	SO:0001819	synonymous_variant	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224473776C>A	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1851G>T	1.37:g.224473776C>A						NVL_uc001hol.2_Silent_p.G511G|NVL_uc010pvd.1_Silent_p.G526G|NVL_uc010pve.1_Silent_p.G428G|NVL_uc010pvf.1_RNA	p.G617G	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	15	1894	-			617					B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	c.1851G>T	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	C	3.394	-0.123662	0.06795	.	.	ENSG00000143748	ENST00000469968	D	0.95342	-3.68	5.28	-9.44	0.00603	.	0.107912	0.64402	D	0.000007	D	0.91178	0.7221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82772	-0.0292	7	0.87932	D	0	-21.0123	2.7119	0.05177	0.2295:0.3379:0.0732:0.3594	.	.	.	.	C	500	ENSP00000419420:G500C	ENSP00000419420:G500C	G	-	1	0	NVL	222540399	0.000000	0.05858	0.823000	0.32752	0.406000	0.30931	-1.370000	0.02575	-1.366000	0.02155	-1.099000	0.02127	GGT		PASS	0.453	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		33	98	33	98	---	---	---	---
NVL	4931	broad.mit.edu	37	1	224475586	224475586	+	Nonsense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:224475586G>C	ENST00000281701.6	-	14	1944	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*	NVL_ENST00000469075.1_Nonsense_Mutation_p.S471*|NVL_ENST00000391875.2_Nonsense_Mutation_p.S456*|NVL_ENST00000482491.1_Nonsense_Mutation_p.S286*|NVL_ENST00000361463.3_Nonsense_Mutation_p.S456*|NVL_ENST00000340871.4_Nonsense_Mutation_p.S373*	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	562						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S562*(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GGGTTGGACTGAGGATAGAGC	0.498																																						uc001hok.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(1684-1686)TCA>TGA		nuclear VCP-like isoform 1							100.0	82.0	88.0					1																	224475586		2203	4300	6503	SO:0001587	stop_gained	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224475586G>C	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1685C>G	1.37:g.224475586G>C	ENSP00000281701:p.Ser562*					NVL_uc001hol.2_Nonsense_Mutation_p.S456*|NVL_uc010pvd.1_Nonsense_Mutation_p.S471*|NVL_uc010pve.1_Nonsense_Mutation_p.S373*|NVL_uc010pvf.1_RNA	p.S562*	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	14	1728	-			562					B4DMC4|B4DP98|Q96EM7	Nonsense_Mutation	SNP	ENST00000281701.6	37	c.1685C>G	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	41	8.586815	0.98875	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463	.	.	.	5.58	3.45	0.39498	.	0.549745	0.20187	N	0.097398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-4.8978	15.7067	0.77588	0.0:0.0:0.7326:0.2674	.	.	.	.	X	562;456;471;286;373;456	.	ENSP00000281701:S562X	S	-	2	0	NVL	222542209	1.000000	0.71417	0.047000	0.18901	0.995000	0.86356	4.437000	0.59955	1.289000	0.44618	0.655000	0.94253	TCA		PASS	0.498	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		25	114	25	114	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241912978	241912978	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:241912978A>T	ENST00000366552.2	+	13	1901	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	WDR64_ENST00000437684.2_Missense_Mutation_p.Q565L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	565								p.Q285L(1)|p.Q565L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AAACACCAGCAGCTGGTCCTG	0.522																																						uc001hzf.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(853-855)CAG>CTG		WD repeat domain 64							136.0	135.0	135.0					1																	241912978		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241912978A>T	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1694A>T	1.37:g.241912978A>T	ENSP00000355510:p.Gln565Leu					WDR64_uc001hzg.1_Missense_Mutation_p.Q31L	p.Q285L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		8	1007	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	565			WD 8.		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.854A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.672|0.672	-0.801383|-0.801383	0.02841|0.02841	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	6.06|6.06	4.9|4.9	0.64082|0.64082	WD40 repeat-like-containing domain (1);|.	0.859947|.	0.10215|.	N|.	0.701662|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.12837|.	0.008;0.002|.	T|T	0.15009|0.15009	-1.0452|-1.0452	10|5	0.11485|.	T|.	0.65|.	-0.2817|-0.2817	10.0738|10.0738	0.42349|0.42349	0.8196:0.0:0.0:0.1804|0.8196:0.0:0.0:0.1804	.|.	565;285|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	L|C	565;565;336|44	ENSP00000355510:Q565L;ENSP00000402446:Q565L;ENSP00000406656:Q336L|.	ENSP00000355510:Q565L|.	Q|S	+|+	2|1	0|0	WDR64|WDR64	239979601|239979601	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.034000|0.034000	0.12701|0.12701	0.995000|0.995000	0.29706|0.29706	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	CAG|AGC		PASS	0.522	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		52	92	52	92	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614764	247614764	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:247614764C>A	ENST00000318749.6	-	1	544	c.521G>T	c.(520-522)gGg>gTg	p.G174V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G174V(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACCTGCCGCCCGCAGAATGG	0.597																																						uc010pyx.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(520-522)GGG>GTG		olfactory receptor, family 2, subfamily B,							56.0	54.0	55.0					1																	247614764		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614764C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.521G>T	1.37:g.247614764C>A	ENSP00000325682:p.Gly174Val						p.G174V	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	521	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	174			Extracellular (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.521G>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365392	0.41902	.	.	ENSG00000177535	ENST00000318749	T	0.38401	1.14	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.115109	0.39146	N	0.001459	T	0.62466	0.2430	M	0.90977	3.165	0.58432	D	0.999996	P	0.52316	0.952	P	0.55161	0.77	T	0.72001	-0.4422	10	0.87932	D	0	.	16.1133	0.81278	0.0:1.0:0.0:0.0	.	174	Q5JQS5	OR2BB_HUMAN	V	174	ENSP00000325682:G174V	ENSP00000325682:G174V	G	-	2	0	OR2B11	245681387	0.000000	0.05858	0.878000	0.34440	0.013000	0.08279	0.832000	0.27490	2.749000	0.94314	0.551000	0.68910	GGG		PASS	0.597	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		16	47	16	47	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655105	247655105	+	RNA	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:247655105G>A	ENST00000522351.1	+	0	736							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A226T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGCCGCGGTGCTGAGGATGA	0.567																																						uc001icz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(676-678)GCT>ACT		olfactory receptor, family 2, subfamily W,							121.0	115.0	117.0					1																	247655105		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655105G>A			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655105G>A							p.A226T	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	676	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	226					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.676G>A																																																																																					PASS	0.567	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		37	172	37	172	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655166	247655166	+	RNA	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:247655166A>T	ENST00000522351.1	+	0	797							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H246L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTCTCACCTCACAGTGGTCTC	0.542																																						uc001icz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(736-738)CAC>CTC		olfactory receptor, family 2, subfamily W,							140.0	124.0	129.0					1																	247655166		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655166A>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655166A>T							p.H246L	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	737	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	246					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.737A>T																																																																																					PASS	0.542	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		35	173	35	173	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247920976	247920976	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:247920976G>T	ENST00000408896.2	-	1	1006	c.733C>A	c.(733-735)Ctg>Atg	p.L245M		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	245					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.L245M(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACCACTGACAGGTGGCAGCTG	0.507																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(733-735)CTG>ATG		olfactory receptor, family 1, subfamily C,							51.0	52.0	52.0					1																	247920976		2042	4214	6256	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920976G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.733C>A	1.37:g.247920976G>T	ENSP00000386138:p.Leu245Met						p.L245M	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	733	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	245			Helical; Name=6; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.733C>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027942	0.54790	.	.	ENSG00000221888	ENST00000408896	T	0.50001	0.76	3.22	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.69967	0.3170	M	0.87682	2.9	0.24958	N	0.991742	D	0.89917	1.0	D	0.91635	0.999	T	0.59139	-0.7510	9	0.87932	D	0	.	10.292	0.43601	0.1028:0.0:0.8972:0.0	.	245	Q15619	OR1C1_HUMAN	M	245	ENSP00000386138:L245M	ENSP00000386138:L245M	L	-	1	2	OR1C1	245987599	0.994000	0.37717	1.000000	0.80357	0.757000	0.42996	0.316000	0.19469	0.681000	0.31386	0.591000	0.81541	CTG		PASS	0.507	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			22	40	22	40	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525461	248525461	+	Silent	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr1:248525461C>A	ENST00000366475.1	+	1	579	c.579C>A	c.(577-579)ccC>ccA	p.P193P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P193P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATTCACTCCCATCACCATGA	0.517																																						uc001ieh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(577-579)CCC>CCA		olfactory receptor, family 2, subfamily T,							248.0	217.0	227.0					1																	248525461		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525461C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.579C>A	1.37:g.248525461C>A							p.P193P	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	579	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		193			Extracellular (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.579C>A	CCDS31113.1																																																																																				PASS	0.517	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		81	314	81	314	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9474892	9474892	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:9474892G>T	ENST00000281419.3	+	8	1052	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L	ASAP2_ENST00000315273.4_Missense_Mutation_p.V238L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	238					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.V238L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACTCAAAGCCGTGGAAAGCCT	0.393																																						uc002qzh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)GTG>TTG		ArfGAP with SH3 domain, ankyrin repeat and PH							113.0	101.0	105.0					2																	9474892		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9474892G>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.712G>T	2.37:g.9474892G>T	ENSP00000281419:p.Val238Leu					ASAP2_uc002qzi.2_Missense_Mutation_p.V238L	p.V238L	NM_003887	NP_003878	O43150	ASAP2_HUMAN			8	1052	+			238					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.712G>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412295	0.83340	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.03212	4.01;4.01	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.08403	0.0209	L	0.31664	0.95	0.80722	D	1	D;D	0.67145	0.977;0.996	P;D	0.66497	0.714;0.944	T	0.21724	-1.0237	10	0.02654	T	1	.	18.7829	0.91941	0.0:0.0:1.0:0.0	.	238;238	O43150-2;O43150	.;ASAP2_HUMAN	L	238	ENSP00000281419:V238L;ENSP00000316404:V238L	ENSP00000281419:V238L	V	+	1	0	ASAP2	9392343	1.000000	0.71417	0.981000	0.43875	0.943000	0.58893	8.901000	0.92560	2.668000	0.90789	0.655000	0.94253	GTG		PASS	0.393	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		33	98	33	98	---	---	---	---
MYCN	4613	broad.mit.edu	37	2	16082411	16082411	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:16082411G>T	ENST00000281043.3	+	2	522	c.225G>T	c.(223-225)ccG>ccT	p.P75P	MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000453400.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	75					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P75P(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCGAGCCCCCGAGCTGGGTCA	0.711			A		neuroblastoma																																	uc002rci.2				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5						c.(223-225)CCG>CCT		v-myc myelocytomatosis viral related oncogene,							11.0	12.0	12.0					2																	16082411		2185	4277	6462	SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082411G>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.225G>T	2.37:g.16082411G>T						MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.P67P	p.P75P	NM_005378	NP_005369	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		2	525	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		75					Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.225G>T	CCDS1687.1																																																																																				PASS	0.711	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		3	13	3	13	---	---	---	---
APOB	338	broad.mit.edu	37	2	21232599	21232599	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:21232599G>A	ENST00000233242.1	-	26	7268	c.7141C>T	c.(7141-7143)Cta>Tta	p.L2381L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2381					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L2381L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGTTGTAGGACATTGCTT	0.323																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7141-7143)CTA>TTA		apolipoprotein B precursor	Atorvastatin(DB01076)						57.0	53.0	54.0					2																	21232599		2203	4298	6501	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232599G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7141C>T	2.37:g.21232599G>A							p.L2381L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7269	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2381					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.7141C>T	CCDS1703.1																																																																																				PASS	0.323	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			16	69	16	69	---	---	---	---
MTA3	57504	broad.mit.edu	37	2	42909590	42909590	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:42909590C>A	ENST00000405094.1	+	9	752	c.752C>A	c.(751-753)gCc>gAc	p.A251D	MTA3_ENST00000405592.1_Missense_Mutation_p.A195D|MTA3_ENST00000406652.1_Missense_Mutation_p.A195D|MTA3_ENST00000406911.1_Missense_Mutation_p.A251D|MTA3_ENST00000407270.3_Missense_Mutation_p.A251D			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	251	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A251D(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTGAGCAGTGCCATTAGTGTC	0.398																																						uc002rso.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(583-585)GCC>GAC		metastasis associated 1 family, member 3							113.0	104.0	107.0					2																	42909590		1907	4117	6024	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42909590C>A	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.752C>A	2.37:g.42909590C>A	ENSP00000385823:p.Ala251Asp					MTA3_uc002rsp.1_Missense_Mutation_p.A195D|MTA3_uc002rsq.2_Missense_Mutation_p.A251D|MTA3_uc002rsr.2_Missense_Mutation_p.A251D	p.A195D	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN			10	1254	+			251			ELM2.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.584C>A		.	.	.	.	.	.	.	.	.	.	C	32	5.140805	0.94560	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.60797	0.17;0.17;0.22;0.21;0.16	5.14	5.14	0.70334	.	0.108661	0.64402	D	0.000006	T	0.81545	0.4845	M	0.91818	3.245	0.80722	D	1	P;D;D	0.76494	0.866;0.999;0.987	P;D;P	0.72625	0.598;0.978;0.901	D	0.85680	0.1300	10	0.87932	D	0	-32.9474	18.7776	0.91918	0.0:1.0:0.0:0.0	.	251;251;195	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	D	195;195;251;251;251;251	ENSP00000383973:A195D;ENSP00000384249:A195D;ENSP00000385045:A251D;ENSP00000385241:A251D;ENSP00000385823:A251D	ENSP00000282366:A251D	A	+	2	0	MTA3	42763094	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	7.417000	0.80156	2.676000	0.91093	0.591000	0.81541	GCC		PASS	0.398	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		5	26	5	26	---	---	---	---
PRKCE	5581	broad.mit.edu	37	2	46228648	46228648	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:46228648C>T	ENST00000306156.3	+	7	1256	c.929C>T	c.(928-930)cCa>cTa	p.P310L	PRKCE_ENST00000394874.1_Missense_Mutation_p.P33L	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	310					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.P310L(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GGCGTTACCCCAGACAAAATC	0.522																																						uc002rut.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10						c.(928-930)CCA>CTA		protein kinase C, epsilon							76.0	72.0	73.0					2																	46228648		1791	3771	5562	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46228648C>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.929C>T	2.37:g.46228648C>T	ENSP00000306124:p.Pro310Leu						p.P310L	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		7	1126	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	310					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.929C>T	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107665	0.94292	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.68765	-0.35;0.38	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	N	0.19112	0.55	0.80722	D	1	P	0.43542	0.81	B	0.38428	0.273	T	0.62728	-0.6793	10	0.72032	D	0.01	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	310	Q02156	KPCE_HUMAN	L	310;33	ENSP00000306124:P310L;ENSP00000378341:P33L	ENSP00000306124:P310L	P	+	2	0	PRKCE	46082152	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	CCA		PASS	0.522	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			24	85	24	85	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50463932	50463932	+	Missense_Mutation	SNP	G	G	T	rs377333818		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:50463932G>T	ENST00000406316.2	-	18	5017	c.3541C>A	c.(3541-3543)Cat>Aat	p.H1181N	NRXN1_ENST00000401710.1_Missense_Mutation_p.H199N|NRXN1_ENST00000404971.1_Missense_Mutation_p.H1221N|NRXN1_ENST00000402717.3_Missense_Mutation_p.H1173N|NRXN1_ENST00000342183.5_Missense_Mutation_p.H146N|NRXN1_ENST00000405472.3_Missense_Mutation_p.H1173N|NRXN1_ENST00000406859.3_Missense_Mutation_p.H1181N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H1181N|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1181	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.H1181N(1)|p.H1221N(1)|p.H1222N(1)|p.H146N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTACTATATGCAGTTCTAGG	0.398																																						uc010fbp.2																			4	Substitution - Missense(4)	p.H146L(1)	lung(4)	ovary(2)	2						c.(436-438)CAT>AAT		neurexin 1 isoform beta precursor		G	ASN/HIS,ASN/HIS,ASN/HIS	0,4406		0,0,2203	95.0	86.0	89.0		3661,3541,436	5.7	1.0	2		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NRXN1	NM_001135659.1,NM_004801.4,NM_138735.2	68,68,68	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1221/1548,1181/1478,146/443	50463932	1,13005	2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50463932G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3541C>A	2.37:g.50463932G>T	ENSP00000384311:p.His1181Asn					NRXN1_uc002rxb.3_Missense_Mutation_p.H853N|NRXN1_uc010fbq.2_Missense_Mutation_p.H1221N|NRXN1_uc002rxe.3_Missense_Mutation_p.H1181N|NRXN1_uc002rxc.1_RNA	p.H146N	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1243	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	146			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.436C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964205	0.74131	0.0	1.16E-4	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.187162	0.34411	U	0.003987	D	0.88872	0.6555	M	0.82517	2.595	0.44289	D	0.997153	P;P;P;P	0.47910	0.734;0.683;0.88;0.902	P;P;P;P	0.61397	0.648;0.798;0.716;0.888	D	0.89430	0.3716	10	0.72032	D	0.01	.	19.7969	0.96490	0.0:0.0:1.0:0.0	.	1221;146;1181;1173	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	N	146;100;199;1221;1181;1173;1181;1222;1173;1181	ENSP00000341184:H146N;ENSP00000385580:H199N;ENSP00000385142:H1221N;ENSP00000384311:H1181N;ENSP00000434015:H1173N;ENSP00000385017:H1181N;ENSP00000385434:H1173N;ENSP00000385681:H1181N	ENSP00000341184:H146N	H	-	1	0	NRXN1	50317436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.653000	0.98506	2.679000	0.91253	0.650000	0.86243	CAT		PASS	0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			17	83	17	83	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746492	77746492	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:77746492G>A	ENST00000409093.1	-	3	839	c.503C>T	c.(502-504)tCa>tTa	p.S168L	LRRTM4_ENST00000409911.1_Missense_Mutation_p.S169L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S168L|LRRTM4_ENST00000409088.3_Missense_Mutation_p.S168L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S169L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	168					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S168L(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGTCTTTAGTGAGTTAGATCT	0.403																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(502-504)TCA>TTA		leucine rich repeat transmembrane neuronal 4							64.0	61.0	62.0					2																	77746492		1843	4079	5922	SO:0001583	missense	80059					integral to membrane		g.chr2:77746492G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.503C>T	2.37:g.77746492G>A	ENSP00000386357:p.Ser168Leu					LRRTM4_uc002snq.2_Missense_Mutation_p.S168L|LRRTM4_uc002sns.2_Missense_Mutation_p.S168L|LRRTM4_uc002snt.2_Missense_Mutation_p.S169L	p.S168L	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	918	-			168			LRR 5.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.503C>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612120	0.46631	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	N	0.13168	0.305	0.80722	D	1	B;B;B	0.28419	0.059;0.047;0.211	B;B;B	0.34346	0.112;0.068;0.18	T	0.33266	-0.9875	10	0.41790	T	0.15	.	18.68	0.91544	0.0:0.0:1.0:0.0	.	169;168;168	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	L	169;168;168;168;169	ENSP00000387228:S169L;ENSP00000387297:S168L;ENSP00000386357:S168L;ENSP00000386236:S168L;ENSP00000386286:S169L	ENSP00000386236:S168L	S	-	2	0	LRRTM4	77600000	1.000000	0.71417	0.959000	0.39883	0.972000	0.66771	9.869000	0.99810	2.757000	0.94681	0.563000	0.77884	TCA		PASS	0.403	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		20	124	20	124	---	---	---	---
UXS1	80146	broad.mit.edu	37	2	106739541	106739541	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:106739541T>G	ENST00000409501.3	-	9	686	c.629A>C	c.(628-630)gAa>gCa	p.E210A	UXS1_ENST00000428048.2_Missense_Mutation_p.E54A|UXS1_ENST00000409032.1_Missense_Mutation_p.E42A|UXS1_ENST00000540130.1_Missense_Mutation_p.E153A|UXS1_ENST00000283148.7_Missense_Mutation_p.E215A			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	210					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.E210A(1)|p.E215A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGGGTGGACTTCAGGATCTAC	0.443																																						uc002tdm.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(628-630)GAA>GCA		UDP-glucuronate decarboxylase 1							115.0	114.0	114.0					2																	106739541		1929	4127	6056	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106739541T>G	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.629A>C	2.37:g.106739541T>G	ENSP00000387019:p.Glu210Ala					UXS1_uc002tdl.2_Missense_Mutation_p.E42A|UXS1_uc002tdn.2_Missense_Mutation_p.E215A|UXS1_uc002tdo.2_Missense_Mutation_p.E153A|UXS1_uc010ywh.1_Missense_Mutation_p.E54A	p.E210A	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			9	727	-			210			Lumenal (Potential).		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.629A>C	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.338494	0.60963	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000428048;ENST00000441952;ENST00000416298;ENST00000444193;ENST00000457835;ENST00000436241	D;D;D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.96	5.96	0.96718	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89044	0.6603	L	0.36672	1.1	0.80722	D	1	B;B;B	0.20368	0.009;0.036;0.044	B;B;B	0.30572	0.026;0.071;0.117	D	0.84666	0.0709	10	0.20046	T	0.44	-10.5634	16.437	0.83878	0.0:0.0:0.0:1.0	.	54;215;210	B4E3U7;Q8NBZ7-2;Q8NBZ7	.;.;UXS1_HUMAN	A	215;153;210;42;54;54;42;42;153;42	ENSP00000283148:E215A;ENSP00000438265:E153A;ENSP00000387019:E210A;ENSP00000387096:E42A;ENSP00000394334:E54A;ENSP00000416656:E54A;ENSP00000403612:E42A;ENSP00000404468:E42A;ENSP00000399316:E153A;ENSP00000397049:E42A	ENSP00000283148:E215A	E	-	2	0	UXS1	106105973	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.579000	0.82511	2.278000	0.76064	0.533000	0.62120	GAA		PASS	0.443	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		31	148	31	148	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125204397	125204397	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:125204397G>A	ENST00000431078.1	+	6	1165	c.801G>A	c.(799-801)caG>caA	p.Q267Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	267	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q267Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGATGACCAGCACTGGCACT	0.612																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(799-801)CAG>CAA		contactin associated protein-like 5 precursor							67.0	72.0	70.0					2																	125204397		2159	4281	6440	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204397G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.801G>A	2.37:g.125204397G>A						CNTNAP5_uc010flu.2_Silent_p.Q267Q	p.Q267Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1165	+			267			Laminin G-like 1.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.801G>A	CCDS46401.1																																																																																				PASS	0.612	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			23	86	23	86	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125671718	125671718	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:125671718G>T	ENST00000431078.1	+	24	4138	c.3774G>T	c.(3772-3774)atG>atT	p.M1258I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1258					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.M1258I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCGGCATCATGACCCGGTTCC	0.453																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(3772-3774)ATG>ATT		contactin associated protein-like 5 precursor							177.0	167.0	171.0					2																	125671718		1971	4177	6148	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671718G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3774G>T	2.37:g.125671718G>T	ENSP00000399013:p.Met1258Ile					CNTNAP5_uc010flu.2_Missense_Mutation_p.M1259I	p.M1258I	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4138	+			1258			Helical; (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3774G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328862	0.41197	.	.	ENSG00000155052	ENST00000431078	T	0.40756	1.02	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000010	T	0.42381	0.1200	L	0.49126	1.545	0.48135	D	0.999591	P	0.43788	0.817	P	0.44860	0.462	T	0.24083	-1.0170	10	0.02654	T	1	.	19.8072	0.96535	0.0:0.0:1.0:0.0	.	1258	Q8WYK1	CNTP5_HUMAN	I	1258	ENSP00000399013:M1258I	ENSP00000399013:M1258I	M	+	3	0	CNTNAP5	125388188	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.128000	0.57951	2.927000	0.99377	0.637000	0.83480	ATG		PASS	0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			34	198	34	198	---	---	---	---
CYP27C1	339761	broad.mit.edu	37	2	127961052	127961052	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:127961052A>T	ENST00000335247.7	-	2	204	c.74T>A	c.(73-75)gTt>gAt	p.V25D	CYP27C1_ENST00000409327.1_Missense_Mutation_p.V25D	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	25						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.V25D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTCAGCAATAACTTGGTTGAC	0.408																																						uc002tod.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GTT>GAT		cytochrome P450, family 27, subfamily C,							160.0	162.0	161.0					2																	127961052		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127961052A>T	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.74T>A	2.37:g.127961052A>T	ENSP00000334128:p.Val25Asp						p.V25D	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	2	205	-	Colorectal(110;0.1)		25					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.74T>A	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476508	0.63737	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.70631	-0.5;-0.5	4.23	4.23	0.50019	.	0.072794	0.53938	D	0.000042	D	0.86397	0.5923	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89389	0.3687	10	0.87932	D	0	-8.0782	13.3227	0.60442	1.0:0.0:0.0:0.0	.	25	Q4G0S4	C27C1_HUMAN	D	25	ENSP00000334128:V25D;ENSP00000387198:V25D	ENSP00000334128:V25D	V	-	2	0	CYP27C1	127677522	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	7.407000	0.80029	1.564000	0.49628	0.402000	0.26972	GTT		PASS	0.408	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665		85	304	85	304	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133542459	133542459	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:133542459G>A	ENST00000409261.1	-	14	2298	c.1925C>T	c.(1924-1926)tCa>tTa	p.S642L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S642L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	642								p.S642L(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTAGTCTCTGAAGGGATGGG	0.443																																						uc002ttp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1924-1926)TCA>TTA		Nck-associated protein 5 isoform 1							83.0	83.0	83.0					2																	133542459		1878	4104	5982	SO:0001583	missense	344148						protein binding	g.chr2:133542459G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1925C>T	2.37:g.133542459G>A	ENSP00000387128:p.Ser642Leu					NCKAP5_uc002ttq.2_Intron	p.S642L	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2299	-			642					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1925C>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	3.107	-0.183414	0.06340	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.42900	0.96;0.96	5.64	-0.926	0.10455	.	0.623143	0.12152	N	0.494751	T	0.15089	0.0364	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29549	-1.0008	10	0.13108	T	0.6	.	5.5512	0.17091	0.3314:0.1851:0.4835:0.0	.	642	O14513	NCKP5_HUMAN	L	642	ENSP00000387128:S642L;ENSP00000380603:S642L	ENSP00000380603:S642L	S	-	2	0	NCKAP5	133258929	0.033000	0.19621	0.001000	0.08648	0.069000	0.16628	0.376000	0.20535	-0.046000	0.13446	-0.310000	0.09108	TCA		PASS	0.443	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		22	140	22	140	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141108479	141108479	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:141108479C>A	ENST00000389484.3	-	77	12750	c.11779G>T	c.(11779-11781)Gat>Tat	p.D3927Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3927					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3927Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAATATACATCCATCCCTGTT	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11779-11781)GAT>TAT		low density lipoprotein-related protein 1B							103.0	108.0	106.0					2																	141108479		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108479C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11779G>T	2.37:g.141108479C>A	ENSP00000374135:p.Asp3927Tyr	TSP Lung(27;0.18)					p.D3927Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12751	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3927			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11779G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.395956|4.395956	0.83011|0.83011	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.91686|.	-2.89|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.125473|.	0.51477|.	D|.	0.000090|.	D|D	0.83220|0.83220	0.5207|0.5207	M|M	0.84846|0.84846	2.72|2.72	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.57899|.	0.981|.	P|.	0.53401|.	0.725|.	D|D	0.84268|0.84268	0.0487|0.0487	10|5	0.87932|.	D|.	0|.	.|.	19.5609|19.5609	0.95371|0.95371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3927|.	Q9NZR2|.	LRP1B_HUMAN|.	Y|C	3927;3865|158	ENSP00000374135:D3927Y|.	ENSP00000374135:D3927Y|.	D|W	-|-	1|3	0|0	LRP1B|LRP1B	140824949|140824949	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.336000|7.336000	0.79245|0.79245	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	GAT|TGG		PASS	0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		60	108	60	108	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152422331	152422331	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:152422331C>T	ENST00000172853.10	-	87	13204	c.13057G>A	c.(13057-13059)Gtc>Atc	p.V4353I	NEB_ENST00000397345.3_Missense_Mutation_p.V6054I|NEB_ENST00000604864.1_Missense_Mutation_p.V6054I|NEB_ENST00000427231.2_Missense_Mutation_p.V6054I|NEB_ENST00000603639.1_Missense_Mutation_p.V6054I|NEB_ENST00000409198.1_Missense_Mutation_p.V4353I			P20929	NEBU_HUMAN	nebulin	4353					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V6054I(1)|p.V4353I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCTGTAGACATTCTGAGAG	0.448																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(13057-13059)GTC>ATC		nebulin isoform 3							42.0	40.0	41.0					2																	152422331		1855	4106	5961	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152422331C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13057G>A	2.37:g.152422331C>T	ENSP00000172853:p.Val4353Ile					NEB_uc002txr.2_Missense_Mutation_p.V776I	p.V4353I	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	87	13248	-			4353			Nebulin 119.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.13057G>A		.	.	.	.	.	.	.	.	.	.	C	9.570	1.120678	0.20877	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	6.16	-10.8	0.00216	.	0.561264	0.19220	N	0.119683	T	0.25044	0.0608	N	0.16130	0.375	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.006	T	0.34925	-0.9809	10	0.11794	T	0.64	.	22.0743	0.99966	0.0:0.6966:0.0754:0.228	.	4353;784	P20929;Q14215	NEBU_HUMAN;.	I	4353;6054;6054;402;784;4353	ENSP00000386259:V4353I;ENSP00000380505:V6054I;ENSP00000416578:V6054I;ENSP00000410961:V784I;ENSP00000172853:V4353I	ENSP00000172853:V4353I	V	-	1	0	NEB	152130577	0.000000	0.05858	0.061000	0.19648	0.703000	0.40648	-2.161000	0.01278	-2.583000	0.00461	-1.969000	0.00466	GTC		PASS	0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	22	4	22	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163031404	163031404	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:163031404C>G	ENST00000188790.4	-	22	2149	c.1942G>C	c.(1942-1944)Gct>Cct	p.A648P	AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Missense_Mutation_p.A623P	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.A648P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAGACTGGAGCCACTGCTATA	0.403																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1942-1944)GCT>CCT		fibroblast activation protein, alpha subunit							113.0	100.0	104.0					2																	163031404		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163031404C>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1942G>C	2.37:g.163031404C>G	ENSP00000188790:p.Ala648Pro					FAP_uc010fpc.2_Missense_Mutation_p.A197P|FAP_uc010zct.1_Missense_Mutation_p.A623P|FAP_uc010fpd.2_Missense_Mutation_p.A127P	p.A648P	NM_004460	NP_004451	Q12884	SEPR_HUMAN			22	2150	-			648			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1942G>C	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058271	0.93846	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.50813	0.73;0.73	5.24	5.24	0.73138	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	H	0.95504	3.68	0.80722	D	1	D;D;D	0.76494	0.985;0.961;0.999	D;D;D	0.87578	0.977;0.946;0.998	D	0.85502	0.1192	10	0.72032	D	0.01	-29.928	19.1981	0.93698	0.0:1.0:0.0:0.0	.	623;127;648	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	P	648;623	ENSP00000188790:A648P;ENSP00000411391:A623P	ENSP00000188790:A648P	A	-	1	0	FAP	162739650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.336000	0.79245	2.615000	0.88500	0.655000	0.94253	GCT		PASS	0.403	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			22	104	22	104	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104375	168104375	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:168104375G>A	ENST00000409195.1	+	9	6562	c.6473G>A	c.(6472-6474)aGc>aAc	p.S2158N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2158N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1936N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1983	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2158N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATACACAAAGCTCCAAGCCC	0.403																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(6472-6474)AGC>AAC		xin actin-binding repeat containing 2 isoform 1							39.0	38.0	38.0					2																	168104375		1853	4093	5946	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104375G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6473G>A	2.37:g.168104375G>A	ENSP00000386840:p.Ser2158Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1983N|XIRP2_uc010fpq.2_Missense_Mutation_p.S1936N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Splice_Site	p.S2158N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6491	+			1983					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6473G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	1.894	-0.454710	0.04540	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.20332	2.08;2.08;2.08	5.84	-0.569	0.11756	.	0.886629	0.09908	N	0.740161	T	0.11367	0.0277	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.35798	-0.9774	10	0.23891	T	0.37	-0.1462	3.2658	0.06864	0.1849:0.0994:0.5128:0.2029	.	1983;1983;1936	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2158;2158;1936	ENSP00000386840:S2158N;ENSP00000295237:S2158N;ENSP00000387255:S1936N	ENSP00000295237:S2158N	S	+	2	0	XIRP2	167812621	0.069000	0.21087	0.001000	0.08648	0.048000	0.14542	0.932000	0.28884	-0.110000	0.12022	-1.735000	0.00691	AGC		PASS	0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		34	68	34	68	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179406233	179406234	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:179406233_179406234TC>AT	ENST00000591111.1	-	300	92871_92872	c.92647_92648GA>AT	c.(92647-92649)GAg>ATg	p.E30883M	TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32524M|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29956M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23584M|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23459M|TTN_ENST00000342175.6_Missense_Mutation_p.E23651M|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30883	Fibronectin type-III 125. {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.E23651M(1)|p.E23584K(1)|p.E23651K(1)|p.E23584M(1)|p.E23459M(1)|p.E29954K(1)|p.E29954M(1)|p.E29956M(1)|p.E23459K(1)|p.E29954V(1)|p.E23459V(1)|p.E29956V(1)|p.E23651V(1)|p.E29956K(1)|p.E23584V(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)			ACCGTCATCCTCTGGTGGGTAC	0.47																																						uc010zfg.1																			15	Substitution - Missense(15)		lung(15)	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.(89866-89868)GAG>GTG|c.(89866-89868)GAG>AAG		titin isoform N2-A																																				SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179406233T>A|g.chr2:179406234C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92647_92648delinsAT	2.37:g.179406233_179406234delinsAT	ENSP00000465570:p.Glu30883Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23651V|TTN_uc010zfi.1_Missense_Mutation_p.E23584V|TTN_uc010zfj.1_Missense_Mutation_p.E23459V|uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E23651K|TTN_uc010zfi.1_Missense_Mutation_p.E23584K|TTN_uc010zfj.1_Missense_Mutation_p.E23459K	p.E29956V|p.E29956K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		299	90091|90090	-			30883					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.89867A>T|c.89866G>A																																																																																					PASS	0.470	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	40|39	14	39	---	---	---	---
ITGA4	3676	broad.mit.edu	37	2	182344882	182344882	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:182344882G>T	ENST00000397033.2	+	6	1073	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	215					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.A215S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGTGATGGGGGCCCCAGGATC	0.338																																						uc002unu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(643-645)GCC>TCC		integrin alpha 4 precursor	Natalizumab(DB00108)						56.0	53.0	54.0					2																	182344882		1788	4050	5838	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182344882G>T		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.643G>T	2.37:g.182344882G>T	ENSP00000380227:p.Ala215Ser					ITGA4_uc010zfl.1_Missense_Mutation_p.A215S	p.A215S	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		6	1406	+			215			FG-GAP 3.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.643G>T	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142232	0.94560	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.61040	0.14;0.14	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.77278	-0.2647	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	215;215	E7EP60;P13612	.;ITA4_HUMAN	S	215	ENSP00000380227:A215S;ENSP00000233573:A215S	ENSP00000233573:A215S	A	+	1	0	ITGA4	182053127	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	7.381000	0.79718	2.878000	0.98634	0.650000	0.86243	GCC		PASS	0.338	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			41	58	41	58	---	---	---	---
ZC3H15	55854	broad.mit.edu	37	2	187368899	187368899	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:187368899G>A	ENST00000337859.6	+	6	902	c.675G>A	c.(673-675)gaG>gaA	p.E225E	ZC3H15_ENST00000544130.1_Silent_p.E20E|AC018867.2_ENST00000595956.1_5'Flank	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	225					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E225E(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			AGAAAGAAGAGAAAGAAGATG	0.363																																						uc002upo.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(673-675)GAG>GAA		erythropoietin 4 immediate early response							80.0	78.0	79.0					2																	187368899		1814	4086	5900	SO:0001819	synonymous_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187368899G>A		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.675G>A	2.37:g.187368899G>A							p.E225E	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		6	900	+			225			Potential.		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP	ENST00000337859.6	37	c.675G>A	CCDS42791.1																																																																																				PASS	0.363	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		33	154	33	154	---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187702112	187702112	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:187702112C>G	ENST00000295131.2	-	5	703	c.664G>C	c.(664-666)Gaa>Caa	p.E222Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	222					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E222Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTCTCTTTTTCTGCTGCAGCT	0.388																																						uc002upu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(664-666)GAA>CAA		zinc finger, SWIM domain containing 2							125.0	120.0	122.0					2																	187702112		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702112C>G	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.664G>C	2.37:g.187702112C>G	ENSP00000295131:p.Glu222Gln						p.E222Q	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	704	-			222					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.664G>C	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559989	0.65538	.	.	ENSG00000163012	ENST00000295131	D	0.88431	-2.38	5.97	5.97	0.96955	.	0.000000	0.53938	D	0.000053	D	0.93383	0.7890	L	0.57536	1.79	0.49582	D	0.999808	D	0.89917	1.0	D	0.83275	0.996	D	0.93205	0.6595	10	0.62326	D	0.03	-17.0152	17.3303	0.87261	0.0:1.0:0.0:0.0	.	222	Q8NEG5	ZSWM2_HUMAN	Q	222	ENSP00000295131:E222Q	ENSP00000295131:E222Q	E	-	1	0	ZSWIM2	187410357	1.000000	0.71417	0.993000	0.49108	0.364000	0.29643	5.666000	0.68059	2.835000	0.97688	0.591000	0.81541	GAA		PASS	0.388	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		32	199	32	199	---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197021277	197021277	+	Missense_Mutation	SNP	C	C	T	rs190316595		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:197021277C>T	ENST00000263955.4	-	3	507	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	STK17B_ENST00000409228.1_Missense_Mutation_p.R74Q|RP11-347P5.1_ENST00000606818.1_RNA	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R74Q(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			AATTTCTGCTCGACAATCCTG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		16577	0.001		0.0	False		,,,				2504	0.0					uc002utk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(220-222)CGA>CAA		serine/threonine kinase 17B							98.0	92.0	94.0					2																	197021277		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197021277C>T	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.221G>A	2.37:g.197021277C>T	ENSP00000263955:p.Arg74Gln					STK17B_uc010fsh.2_Missense_Mutation_p.R74Q	p.R74Q	NM_004226	NP_004217	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		3	545	-			74			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.221G>A	CCDS2315.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.8	4.866035	0.91511	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.65364	-0.15;-0.15	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.414870	0.17809	N	0.161266	T	0.63651	0.2529	N	0.25201	0.72	0.43879	D	0.996493	D	0.65815	0.995	P	0.60609	0.877	T	0.65841	-0.6070	10	0.87932	D	0	.	11.7651	0.51926	0.0:0.8747:0.0:0.1253	.	74	O94768	ST17B_HUMAN	Q	74	ENSP00000263955:R74Q;ENSP00000386853:R74Q	ENSP00000263955:R74Q	R	-	2	0	STK17B	196729522	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.814000	0.38972	2.658000	0.90341	0.650000	0.86243	CGA		PASS	0.358	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			7	221	7	221	---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197757926	197757926	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:197757926T>C	ENST00000354764.4	-	8	1085	c.971A>G	c.(970-972)cAc>cGc	p.H324R	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Missense_Mutation_p.H282R|PGAP1_ENST00000409475.1_Missense_Mutation_p.H324R	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	324					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.H324R(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCTTATAAAGTGGTGATACAA	0.289																																						uc002utw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(970-972)CAC>CGC		GPI deacylase							119.0	124.0	123.0					2																	197757926		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197757926T>C		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.971A>G	2.37:g.197757926T>C	ENSP00000346809:p.His324Arg					PGAP1_uc002utx.2_Missense_Mutation_p.H150R|PGAP1_uc002uty.1_Missense_Mutation_p.H324R|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.H150R	p.H324R	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			8	1085	-			324			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.971A>G	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509674	0.64522	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000409188;ENST00000374738	.	.	.	4.9	4.9	0.64082	.	0.051812	0.85682	D	0.000000	T	0.61739	0.2371	L	0.27053	0.805	0.51767	D	0.999933	D;D;D	0.89917	1.0;1.0;0.981	D;D;D	0.77004	0.963;0.989;0.966	T	0.58008	-0.7712	9	0.24483	T	0.36	-12.6994	13.2511	0.60052	0.0:0.0:0.0:1.0	.	282;324;324	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	R	104;324;324;282;104	.	ENSP00000346809:H324R	H	-	2	0	PGAP1	197466171	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.950000	0.63603	2.064000	0.61679	0.460000	0.39030	CAC		PASS	0.289	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		15	87	15	87	---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	206988912	206988912	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:206988912G>C	ENST00000233190.6	-	19	2447	c.2181C>G	c.(2179-2181)tgC>tgG	p.C727W	AC007383.4_ENST00000453039.1_RNA|NDUFS1_ENST00000440274.1_Missense_Mutation_p.C691W|NDUFS1_ENST00000457011.1_Missense_Mutation_p.C611W|NDUFS1_ENST00000449699.1_Missense_Mutation_p.C727W|NDUFS1_ENST00000455934.2_Missense_Mutation_p.C741W|NDUFS1_ENST00000423725.1_Missense_Mutation_p.C670W|NDUFS1_ENST00000432169.1_Missense_Mutation_p.C616W	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	727					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.C727W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGCTTCAGCATATGGATG	0.403																																						uc002vbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2179-2181)TGC>TGG		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						112.0	94.0	100.0					2																	206988912		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:206988912G>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.2181C>G	2.37:g.206988912G>C	ENSP00000233190:p.Cys727Trp					NDUFS1_uc010ziq.1_Missense_Mutation_p.C741W|NDUFS1_uc010zir.1_Missense_Mutation_p.C691W|NDUFS1_uc010zis.1_Missense_Mutation_p.C670W|NDUFS1_uc010zit.1_Missense_Mutation_p.C616W|NDUFS1_uc010ziu.1_Missense_Mutation_p.C611W	p.C727W	NM_005006	NP_004997	P28331	NDUS1_HUMAN			19	2308	-			727					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.2181C>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276709	0.59758	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.88354	-2.34;-2.3;-2.2;-2.2;-2.37;-2.34;-2.2	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.91858	0.7423	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	P;D;D;D	0.70716	0.866;0.97;0.97;0.932	D	0.92879	0.6321	10	0.87932	D	0	-9.4739	18.8631	0.92281	0.0:0.0:1.0:0.0	.	616;691;741;727	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	W	727;670;611;691;741;727;616	ENSP00000233190:C727W;ENSP00000397760:C670W;ENSP00000400976:C611W;ENSP00000409766:C691W;ENSP00000392709:C741W;ENSP00000399912:C727W;ENSP00000409689:C616W	ENSP00000233190:C727W	C	-	3	2	NDUFS1	206697157	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.712000	0.54875	2.456000	0.83038	0.563000	0.77884	TGC		PASS	0.403	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		50	78	50	78	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215896613	215896613	+	Silent	SNP	G	G	A	rs537269523		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:215896613G>A	ENST00000272895.7	-	9	1212	c.993C>T	c.(991-993)tcC>tcT	p.S331S	ABCA12_ENST00000389661.4_Silent_p.S13S|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	331					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.S331S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATATTATCGGAGTCACCTG	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		17571	0.0		0.0	False		,,,				2504	0.001				Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(991-993)TCC>TCT		ATP-binding cassette, sub-family A, member 12							150.0	151.0	151.0					2																	215896613		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215896613G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.993C>T	2.37:g.215896613G>A						ABCA12_uc002vev.2_Silent_p.S13S|ABCA12_uc010zjn.1_5'UTR	p.S331S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	9	1213	-		Renal(323;0.127)	331					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.993C>T	CCDS33372.1																																																																																				PASS	0.348	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		22	242	22	242	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	233990506	233990506	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:233990506C>A	ENST00000359570.5	+	4	401	c.401C>A	c.(400-402)aCt>aAt	p.T134N	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.T134N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	134					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.T134N(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ATCCCGCTGACTGCCAGCTCC	0.587																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(400-402)ACT>AAT		SH2 containing inositol phosphatase isoform a							36.0	41.0	39.0					2																	233990506		2174	4280	6454	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233990506C>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.401C>A	2.37:g.233990506C>A	ENSP00000352575:p.Thr134Asn					INPP5D_uc010zmp.1_Missense_Mutation_p.T133N	p.T134N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	4	554	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	134					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.401C>A		.	.	.	.	.	.	.	.	.	.	C	13.04	2.119317	0.37436	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96265	-2.92;-2.93;-3.96;-3.92	5.23	5.23	0.72850	.	1.062350	0.07193	N	0.856142	D	0.94712	0.8294	.	.	.	0.09310	N	1	B;B	0.19200	0.034;0.012	B;B	0.18871	0.023;0.01	D	0.86619	0.1878	9	0.66056	D	0.02	.	15.7823	0.78269	0.0:1.0:0.0:0.0	.	133;134	Q92835-2;Q92835	.;SHIP1_HUMAN	N	133;134;134;134	ENSP00000409018:T133N;ENSP00000415253:T134N;ENSP00000352575:T134N;ENSP00000441010:T134N	ENSP00000352575:T134N	T	+	2	0	INPP5D	233698750	0.002000	0.14202	0.004000	0.12327	0.002000	0.02628	1.681000	0.37618	2.438000	0.82558	0.650000	0.86243	ACT		PASS	0.587	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		10	35	10	35	---	---	---	---
UGT1A9	54600	broad.mit.edu	37	2	234580890	234580890	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:234580890A>C	ENST00000354728.4	+	1	392	c.310A>C	c.(310-312)Agt>Cgt	p.S104R	UGT1A1_ENST00000609637.1_Missense_Mutation_p.S104R|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	104					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.S104R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	ACAAGTACGAAGTATATATTC	0.348																																						uc002vus.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(310-312)AGT>CGT		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						90.0	90.0	90.0					2																	234580890		2203	4300	6503	SO:0001583	missense	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234580890A>C	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.310A>C	2.37:g.234580890A>C	ENSP00000346768:p.Ser104Arg					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.S104R	p.S104R	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	347	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	104					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.310A>C	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	7.397	0.631962	0.14322	.	.	ENSG00000241119	ENST00000354728	T	0.59772	0.24	3.45	-2.48	0.06423	.	.	.	.	.	T	0.37128	0.0992	L	0.28192	0.835	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.23018	0.043;0.043	T	0.22871	-1.0204	9	0.22706	T	0.39	.	5.6645	0.17687	0.3547:0.1724:0.4729:0.0	.	104;104	Q5DSZ5;O60656	.;UD19_HUMAN	R	104	ENSP00000346768:S104R	ENSP00000346768:S104R	S	+	1	0	UGT1A9	234245629	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.430000	0.01024	-0.578000	0.05959	0.366000	0.22137	AGT		PASS	0.348	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		44	178	44	178	---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237246993	237246993	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:237246993G>A	ENST00000409907.3	-	17	2263	c.1989C>T	c.(1987-1989)ccC>ccT	p.P663P	IQCA1_ENST00000309507.5_Silent_p.P660P|IQCA1_ENST00000431676.2_Silent_p.P622P	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	663							ATP binding (GO:0005524)	p.P671P(1)|p.P663P(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCAGGATTTGGGGAAGGTGTT	0.403																																						uc002vvz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1987-1989)CCC>CCT		IQ motif containing with AAA domain 1							116.0	117.0	117.0					2																	237246993		1811	4072	5883	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237246993G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1989C>T	2.37:g.237246993G>A						IQCA1_uc002vwb.2_Silent_p.P671P|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.P622P	p.P663P	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			17	2171	-			663					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.1989C>T	CCDS46549.1																																																																																				PASS	0.403	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		23	115	23	115	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240111549	240111549	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:240111549G>T	ENST00000345617.3	-	4	1110	c.319C>A	c.(319-321)Cag>Aag	p.Q107K	HDAC4_ENST00000541256.1_Missense_Mutation_p.Q76K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	107					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q107K(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCGTGGAGCTGCGCCTCGTGC	0.687																																						uc002vyk.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(319-321)CAG>AAG		histone deacetylase 4							27.0	25.0	25.0					2																	240111549		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240111549G>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.319C>A	2.37:g.240111549G>T	ENSP00000264606:p.Gln107Lys					HDAC4_uc010fyz.1_Missense_Mutation_p.Q102K|HDAC4_uc010zoa.1_Missense_Mutation_p.Q102K|HDAC4_uc010fza.2_Missense_Mutation_p.Q107K|HDAC4_uc002vyl.1_RNA|HDAC4_uc010fyy.2_Missense_Mutation_p.Q59K	p.Q107K	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	4	1111	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	107			Potential.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.319C>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705875	0.89018	.	.	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	T;T;T;T	0.53640	1.07;1.07;0.64;0.61	4.29	4.29	0.51040	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.72894	2.215	0.80722	D	1	D;D;D;P;D	0.69078	0.985;0.997;0.997;0.704;0.997	D;P;D;B;D	0.76071	0.981;0.89;0.987;0.294;0.987	T	0.69903	-0.5019	9	.	.	.	.	17.1336	0.86733	0.0:0.0:1.0:0.0	.	102;76;76;75;107	B7Z8G5;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;HDAC4_HUMAN	K	107;76;76;80	ENSP00000264606:Q107K;ENSP00000443057:Q76K;ENSP00000405226:Q76K;ENSP00000392912:Q80K	.	Q	-	1	0	HDAC4	239776486	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.273000	0.95719	2.137000	0.66172	0.563000	0.77884	CAG		PASS	0.687	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		14	31	14	31	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241715339	241715339	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr2:241715339T>A	ENST00000320389.7	-	11	1045	c.887A>T	c.(886-888)aAg>aTg	p.K296M	KIF1A_ENST00000498729.2_Missense_Mutation_p.K296M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	296	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.K296M(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTCTTTTTCTTGTTCTGTGG	0.562																																						uc002vzy.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(886-888)AAG>ATG		axonal transport of synaptic vesicles							97.0	103.0	101.0					2																	241715339		1960	4137	6097	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241715339T>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.887A>T	2.37:g.241715339T>A	ENSP00000322791:p.Lys296Met					KIF1A_uc010fzk.2_Missense_Mutation_p.K296M|KIF1A_uc002vzz.1_Missense_Mutation_p.K296M	p.K296M	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	11	1033	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	296			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.887A>T	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.69|19.69	3.873834|3.873834	0.72180|0.72180	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000428768	D;D;D|.	0.88201|.	-2.35;-2.35;-2.35|.	4.05|4.05	2.89|2.89	0.33648|0.33648	Kinesin, motor domain (3);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.65176|0.65176	0.2666|0.2666	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.989;1.0|.	D;P;D|.	0.77557|.	0.99;0.814;0.979|.	T|T	0.62172|0.62172	-0.6910|-0.6910	10|5	0.87932|.	D|.	0|.	.|.	9.0919|9.0919	0.36617|0.36617	0.0:0.0889:0.0:0.9111|0.0:0.0889:0.0:0.9111	.|.	296;296;296|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	M|H	296|103	ENSP00000322791:K296M;ENSP00000438388:K296M;ENSP00000384231:K296M|.	ENSP00000322791:K296M|.	K|Q	-|-	2|3	0|2	KIF1A|KIF1A	241364012|241364012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.692000|7.692000	0.84203|0.84203	0.558000|0.558000	0.29135|0.29135	0.392000|0.392000	0.25879|0.25879	AAG|CAA		PASS	0.562	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		10	52	10	52	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47374703	47374703	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:47374703C>T	ENST00000232766.5	+	5	677	c.657C>T	c.(655-657)taC>taT	p.Y219Y	KLHL18_ENST00000455924.2_Silent_p.Y107Y	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	219	BACK.							p.Y219Y(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GGGGTCCCTACCTGCCTGAGC	0.577																																						uc003crd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(655-657)TAC>TAT		kelch-like 18							90.0	87.0	88.0					3																	47374703		2203	4300	6503	SO:0001819	synonymous_variant	23276							g.chr3:47374703C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.657C>T	3.37:g.47374703C>T						KLHL18_uc003crc.2_Silent_p.Y219Y|KLHL18_uc011bav.1_Silent_p.Y107Y|KLHL18_uc010hjq.1_Silent_p.Y70Y	p.Y219Y	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	5	783	+		Acute lymphoblastic leukemia(5;0.164)	219			BACK.		A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	c.657C>T	CCDS33749.1																																																																																				PASS	0.577	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		18	35	18	35	---	---	---	---
MAPKAPK3	7867	broad.mit.edu	37	3	50677815	50677815	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:50677815A>T	ENST00000446044.1	+	5	834	c.238A>T	c.(238-240)Aag>Tag	p.K80*	MAPKAPK3_ENST00000357955.2_Nonsense_Mutation_p.K80*	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)	p.K80*(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGACAGCCCCAAGGCCCGGCA	0.537																																						uc003day.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(238-240)AAG>TAG		mitogen-activated protein kinase-activated							119.0	127.0	124.0					3																	50677815		2203	4300	6503	SO:0001587	stop_gained	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50677815A>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.238A>T	3.37:g.50677815A>T	ENSP00000396467:p.Lys80*					MAPKAPK3_uc003daz.1_Nonsense_Mutation_p.K80*|MAPKAPK3_uc003dba.1_Nonsense_Mutation_p.K80*|MAPKAPK3_uc010hlr.1_Nonsense_Mutation_p.K80*	p.K80*	NM_004635	NP_004626	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	5	834	+			80			Protein kinase.		B5BU67	Nonsense_Mutation	SNP	ENST00000446044.1	37	c.238A>T	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937487	0.92458	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955;ENST00000457064	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.5108	15.435	0.75140	1.0:0.0:0.0:0.0	.	.	.	.	X	80	.	ENSP00000350639:K80X	K	+	1	0	MAPKAPK3	50652819	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.307000	0.96226	2.121000	0.65114	0.533000	0.62120	AAG		PASS	0.537	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		51	182	51	182	---	---	---	---
RBM15B	29890	broad.mit.edu	37	3	51431014	51431014	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:51431014G>C	ENST00000323686.4	+	1	2284	c.2184G>C	c.(2182-2184)ttG>ttC	p.L728F		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	728	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L728F(1)		endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTCTGGTGTTGAAAAACAGCT	0.522																																						uc003dbd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2182-2184)TTG>TTC		RNA binding motif protein 15B							89.0	90.0	90.0					3																	51431014		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51431014G>C	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2184G>C	3.37:g.51431014G>C	ENSP00000313890:p.Leu728Phe						p.L728F	NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2284	+			728			Interaction with Epstein-Barr virus BMLF1.|SPOC.		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.2184G>C	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891038	0.33348	.	.	ENSG00000179837	ENST00000323686;ENST00000540284;ENST00000541145;ENST00000536338	T	0.54279	0.58	5.75	2.89	0.33648	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.70343	0.3213	M	0.89287	3.02	0.48395	D	0.999644	D	0.89917	1.0	D	0.91635	0.999	T	0.67461	-0.5665	9	0.87932	D	0	-9.6524	3.2746	0.06894	0.1461:0.2508:0.4741:0.1289	.	728	Q8NDT2	RB15B_HUMAN	F	728;49;401;147	ENSP00000313890:L728F	ENSP00000313890:L728F	L	+	3	2	RBM15B	51406054	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	1.906000	0.39887	0.315000	0.23110	0.655000	0.94253	TTG		PASS	0.522	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		79	76	79	76	---	---	---	---
FAM208A	23272	broad.mit.edu	37	3	56680635	56680635	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:56680635C>T	ENST00000493960.2	-	14	2140	c.2130G>A	c.(2128-2130)ttG>ttA	p.L710L	FAM208A_ENST00000355628.5_Silent_p.L710L|FAM208A_ENST00000431842.2_Silent_p.L314L	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	710							poly(A) RNA binding (GO:0044822)	p.L314L(1)|p.L710L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GCTTCCTCTTCAAGACAGTTT	0.358																																						uc003did.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2128-2130)TTG>TTA		retinoblastoma-associated protein 140 isoform b							151.0	151.0	151.0					3																	56680635		2203	4299	6502	SO:0001819	synonymous_variant	23272							g.chr3:56680635C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2130G>A	3.37:g.56680635C>T						C3orf63_uc003dic.3_Silent_p.L314L|C3orf63_uc003die.3_Silent_p.L710L	p.L710L	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	14	2231	-			710					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	c.2130G>A	CCDS46853.1																																																																																				PASS	0.358	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		49	156	49	156	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98188809	98188809	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:98188809T>G	ENST00000332650.5	+	1	486	c.389T>G	c.(388-390)cTg>cGg	p.L130R		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L130R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCAACCCACTGCAGTACCAC	0.468																																						uc003dsm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(388-390)CTG>CGG		olfactory receptor, family 5, subfamily K,							122.0	123.0	122.0					3																	98188809		2203	4300	6503	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188809T>G	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.389T>G	3.37:g.98188809T>G	ENSP00000373193:p.Leu130Arg						p.L130R	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	389	+			130			Cytoplasmic (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.389T>G	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.874963	0.72180	.	.	ENSG00000232382	ENST00000332650	T	0.01516	4.81	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33854	N	0.004493	T	0.16300	0.0392	H	0.95504	3.68	0.32004	N	0.602941	D	0.89917	1.0	D	0.91635	0.999	T	0.39418	-0.9615	10	0.87932	D	0	-6.2972	13.2379	0.59979	0.0:0.0:0.0:1.0	.	130	Q8NHB7	OR5K1_HUMAN	R	130	ENSP00000373193:L130R	ENSP00000373193:L130R	L	+	2	0	OR5K1	99671499	1.000000	0.71417	0.998000	0.56505	0.713000	0.41058	7.653000	0.83643	2.009000	0.58944	0.460000	0.39030	CTG		PASS	0.468	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			58	427	58	427	---	---	---	---
CMSS1	84319	broad.mit.edu	37	3	99895187	99895187	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:99895187C>T	ENST00000421999.2	+	9	830	c.684C>T	c.(682-684)agC>agT	p.S228S	CMSS1_ENST00000489081.1_Silent_p.S210S	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	228							poly(A) RNA binding (GO:0044822)	p.S228S(1)									TTAATTTGAGCCCCTTAAAAT	0.408																																						uc003dtl.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(682-684)AGC>AGT		hypothetical protein LOC84319							90.0	93.0	92.0					3																	99895187		2203	4300	6503	SO:0001819	synonymous_variant	84319						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr3:99895187C>T		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.684C>T	3.37:g.99895187C>T							p.S228S	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN			9	827	+			228					A8K5S7|B4DUM1|E9PHS3	Silent	SNP	ENST00000421999.2	37	c.684C>T	CCDS2935.1																																																																																				PASS	0.408	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		4	157	4	157	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100976537	100976537	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:100976537G>C	ENST00000193391.7	-	10	1176	c.989C>G	c.(988-990)tCc>tGc	p.S330C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	330	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.S330C(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACCTTGTTGGAGTGAAGGCT	0.433																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(988-990)TCC>TGC		interphotoreceptor matrix proteoglycan 2							139.0	131.0	134.0					3																	100976537		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100976537G>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.989C>G	3.37:g.100976537G>C	ENSP00000193391:p.Ser330Cys					IMPG2_uc011bhe.1_Missense_Mutation_p.S193C	p.S330C	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			10	1192	-			330			Extracellular (Potential).|SEA 1.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.989C>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636244	0.67130	.	.	ENSG00000081148	ENST00000193391	T	0.41065	1.01	5.38	5.38	0.77491	SEA (2);	0.000000	0.64402	D	0.000007	T	0.66934	0.2840	M	0.77313	2.365	0.41581	D	0.98874	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71474	-0.4582	10	0.87932	D	0	-8.5725	17.3142	0.87218	0.0:0.0:1.0:0.0	.	330;330	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	C	330	ENSP00000193391:S330C	ENSP00000193391:S330C	S	-	2	0	IMPG2	102459227	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.766000	0.68843	2.522000	0.85027	0.313000	0.20887	TCC		PASS	0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			64	300	64	300	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108698408	108698408	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:108698408T>A	ENST00000483760.1	-	23	2411	c.2368A>T	c.(2368-2370)Agc>Tgc	p.S790C	MORC1_ENST00000232603.5_Missense_Mutation_p.S811C					MORC family CW-type zinc finger 1									p.S811C(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGGTGTGCTTTGAGAAGAC	0.403																																						uc003dxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(2431-2433)AGC>TGC		MORC family CW-type zinc finger 1							118.0	118.0	118.0					3																	108698408		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108698408T>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2368A>T	3.37:g.108698408T>A	ENSP00000417282:p.Ser790Cys					MORC1_uc011bhn.1_Missense_Mutation_p.S790C	p.S811C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			24	2518	-			811						Missense_Mutation	SNP	ENST00000483760.1	37	c.2431A>T		.	.	.	.	.	.	.	.	.	.	T	11.73	1.724696	0.30593	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.09163	3.01;3.01	5.29	2.84	0.33178	.	0.370467	0.23598	N	0.046480	T	0.07324	0.0185	L	0.29908	0.895	0.21020	N	0.99981	B;B	0.21905	0.062;0.062	B;B	0.18871	0.023;0.023	T	0.30060	-0.9991	10	0.66056	D	0.02	-2.6124	4.5457	0.12079	0.1689:0.0902:0.0:0.7409	.	790;811	E7ERX1;Q86VD1	.;MORC1_HUMAN	C	811;790	ENSP00000232603:S811C;ENSP00000417282:S790C	ENSP00000232603:S811C	S	-	1	0	MORC1	110181098	0.984000	0.35163	0.038000	0.18304	0.012000	0.07955	1.253000	0.32886	0.434000	0.26340	0.533000	0.62120	AGC		PASS	0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			24	289	24	289	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119133513	119133513	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:119133513T>C	ENST00000264245.4	+	12	3269	c.2737T>C	c.(2737-2739)Tgg>Cgg	p.W913R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	913					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.W913R(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAACCCCAGTGGGTGACGAG	0.587																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2737-2739)TGG>CGG		Cdc42 GTPase-activating protein							96.0	100.0	98.0					3																	119133513		2020	4177	6197	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133513T>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2737T>C	3.37:g.119133513T>C	ENSP00000264245:p.Trp913Arg						p.W913R	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3269	+			913					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2737T>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	T	17.95	3.513120	0.64522	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.34072	1.38	4.7	4.7	0.59300	.	0.000000	0.52532	D	0.000070	T	0.48502	0.1503	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51639	-0.8680	10	0.87932	D	0	.	13.4933	0.61408	0.0:0.0:0.0:1.0	.	913	Q2M1Z3	RHG31_HUMAN	R	913	ENSP00000264245:W913R	ENSP00000264245:W913R	W	+	1	0	ARHGAP31	120616203	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.177000	0.77650	1.969000	0.57287	0.459000	0.35465	TGG		PASS	0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			32	335	32	335	---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123036947	123036947	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:123036947G>A	ENST00000462833.1	-	11	3486	c.2274C>T	c.(2272-2274)gaC>gaT	p.D758D	ADCY5_ENST00000491190.1_Silent_p.D391D|ADCY5_ENST00000309879.5_Silent_p.D408D	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	758					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D758D(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAAATCGGTCGTCTACCTGCT	0.602																																						uc003egh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2272-2274)GAC>GAT		adenylate cyclase 5							139.0	112.0	121.0					3																	123036947		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123036947G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2274C>T	3.37:g.123036947G>A						ADCY5_uc003egg.1_Silent_p.D391D|ADCY5_uc003egi.1_Silent_p.D317D	p.D758D	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	11	2274	-			758			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2274C>T	CCDS3022.1																																																																																				PASS	0.602	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		11	71	11	71	---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123049852	123049852	+	Silent	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:123049852A>G	ENST00000462833.1	-	5	2742	c.1530T>C	c.(1528-1530)tgT>tgC	p.C510C	ADCY5_ENST00000491190.1_Silent_p.C143C|ADCY5_ENST00000309879.5_Silent_p.C160C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	510	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.C510C(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TAATACGTAAACAGTGATTCT	0.453																																						uc003egh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1528-1530)TGT>TGC		adenylate cyclase 5							67.0	64.0	65.0					3																	123049852		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123049852A>G	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1530T>C	3.37:g.123049852A>G						ADCY5_uc003egg.1_Silent_p.C143C|ADCY5_uc003egi.1_Silent_p.C69C	p.C510C	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	5	1530	-			510			Guanylate cyclase 1.|Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1530T>C	CCDS3022.1																																																																																				PASS	0.453	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		17	87	17	87	---	---	---	---
PODXL2	50512	broad.mit.edu	37	3	127379640	127379640	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:127379640G>T	ENST00000342480.6	+	3	808	c.769G>T	c.(769-771)Gac>Tac	p.D257Y		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	257					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.D257Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GACTCCGGGGGACCAGGACTC	0.637																																						uc003ejq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(769-771)GAC>TAC		podocalyxin-like 2 precursor							33.0	37.0	35.0					3																	127379640		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379640G>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.769G>T	3.37:g.127379640G>T	ENSP00000345359:p.Asp257Tyr						p.D257Y	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	793	+			257			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.769G>T	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	3.695	-0.062630	0.07273	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.23147	1.92	4.67	1.66	0.24008	.	1.415560	0.04541	N	0.388102	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	P	0.42785	0.79	B	0.28916	0.096	T	0.18840	-1.0324	10	0.59425	D	0.04	0.4902	5.8479	0.18675	0.1518:0.3414:0.5068:0.0	.	257	Q9NZ53	PDXL2_HUMAN	Y	257	ENSP00000345359:D257Y	ENSP00000304498:D257Y	D	+	1	0	PODXL2	128862330	0.013000	0.17824	0.010000	0.14722	0.049000	0.14656	0.276000	0.18716	0.447000	0.26695	0.491000	0.48974	GAC		PASS	0.637	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		27	78	27	78	---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145806374	145806374	+	Splice_Site	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:145806374T>A	ENST00000360060.3	-	9	1181	c.1004A>T	c.(1003-1005)aAa>aTa	p.K335I	PLOD2_ENST00000461497.1_5'Flank|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Splice_Site_p.K335I|PLOD2_ENST00000494950.1_Splice_Site_p.K280I	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	335					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.K335I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AATACTTACTTTGTTATGAAT	0.289																																						uc003evs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1003-1005)AAA>ATA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						48.0	49.0	49.0					3																	145806374		2199	4297	6496	SO:0001630	splice_region_variant	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145806374T>A	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1005+1A>T	3.37:g.145806374T>A						PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.K280I|PLOD2_uc003evr.1_Missense_Mutation_p.K335I	p.K335I	NM_000935	NP_000926	O00469	PLOD2_HUMAN			9	1510	-			335					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1004A>T	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855981	0.51376	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	D;D;D	0.84800	-1.9;-1.9;-1.9	5.38	-0.169	0.13339	.	0.289528	0.42821	D	0.000656	T	0.73024	0.3534	N	0.24115	0.695	0.58432	D	0.999999	B;B;B	0.31054	0.306;0.081;0.041	B;B;B	0.32022	0.133;0.066;0.139	T	0.64846	-0.6311	10	0.51188	T	0.08	-21.4329	9.9919	0.41877	0.0:0.3163:0.0:0.6836	.	280;335;335	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	I	335;335;280	ENSP00000282903:K335I;ENSP00000353170:K335I;ENSP00000420094:K280I	ENSP00000282903:K335I	K	-	2	0	PLOD2	147289064	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.007000	0.40883	0.056000	0.16144	0.528000	0.53228	AAA		PASS	0.289	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935	Missense_Mutation	6	58	6	58	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128108	147128108	+	Missense_Mutation	SNP	G	G	T	rs577417327		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:147128108G>T	ENST00000282928.4	+	1	938	c.209G>T	c.(208-210)gGc>gTc	p.G70V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	70					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.G70V(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						CAGGCGCCAGGCTACGCGGCT	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		11216	0.0		0.0	False		,,,				2504	0.001					uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(208-210)GGC>GTC		zinc finger protein of the cerebellum 1							15.0	18.0	17.0					3																	147128108		2177	4290	6467	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.chr3:147128108G>T	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.209G>T	3.37:g.147128108G>T	ENSP00000282928:p.Gly70Val						p.G70V	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	928	+			70					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.209G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067782	0.55539	.	.	ENSG00000152977	ENST00000282928	D	0.88046	-2.33	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	D	0.92818	0.7716	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.94032	0.7302	10	0.87932	D	0	.	16.1771	0.81858	0.0:0.0:1.0:0.0	.	70	Q15915	ZIC1_HUMAN	V	70	ENSP00000282928:G70V	ENSP00000282928:G70V	G	+	2	0	ZIC1	148610798	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.262000	0.78410	1.806000	0.52798	0.442000	0.29010	GGC		PASS	0.677	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		20	19	20	19	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128132	147128132	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:147128132G>T	ENST00000282928.4	+	1	962	c.233G>T	c.(232-234)gGc>gTc	p.G78V		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	78					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.G78V(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						GCGGCCCTGGGCCATCACCAT	0.687																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(232-234)GGC>GTC		zinc finger protein of the cerebellum 1							13.0	16.0	15.0					3																	147128132		2143	4279	6422	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.chr3:147128132G>T	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.233G>T	3.37:g.147128132G>T	ENSP00000282928:p.Gly78Val						p.G78V	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	952	+			78					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.233G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733869	0.48939	.	.	ENSG00000152977	ENST00000282928	D	0.90732	-2.72	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	D	0.92479	0.7612	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.90228	0.4277	10	0.15952	T	0.53	.	16.1771	0.81858	0.0:0.0:1.0:0.0	.	78	Q15915	ZIC1_HUMAN	V	78	ENSP00000282928:G78V	ENSP00000282928:G78V	G	+	2	0	ZIC1	148610822	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.420000	0.80191	1.806000	0.52798	0.442000	0.29010	GGC		PASS	0.687	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		10	31	10	31	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160146715	160146716	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:160146715_160146716TC>AA	ENST00000357388.3	+	18	3231_3232	c.2780_2781TC>AA	c.(2779-2781)aTC>aAA	p.I927K	SMC4_ENST00000360111.2_Missense_Mutation_p.I927K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.I927K|SMC4_ENST00000469762.1_Missense_Mutation_p.I902K|SMC4_ENST00000344722.5_Missense_Mutation_p.I927K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	927					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.I927N(1)|p.I927I(1)|p.I927K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAAGTAGCAATCAAGACTGCTG	0.366																																						uc003fdh.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|breast(1)	2						c.(2779-2781)ATC>AAC|c.(2779-2781)ATC>ATA		SMC4 structural maintenance of chromosomes																																				SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160146715T>A|g.chr3:160146716C>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	Exception_encountered	3.37:g.160146715_160146716delinsAA	ENSP00000349961:p.Ile927Lys					IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.I902N|SMC4_uc003fdj.2_Missense_Mutation_p.I927N|SMC4_uc010hwd.2_Missense_Mutation_p.I927N|SMC4_uc003fdl.2_Missense_Mutation_p.I630N|IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Silent_p.I902I|SMC4_uc003fdj.2_Silent_p.I927I|SMC4_uc010hwd.2_Silent_p.I927I|SMC4_uc003fdl.2_Silent_p.I630I	p.I927N|p.I927I	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		18	2893|2894	+			927			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation|Silent	SNP	ENST00000357388.3	37	c.2780T>A|c.2781C>A	CCDS3189.1																																																																																				PASS	0.366	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			47|46	168|169	46	168	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	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.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.chr3:178936082G>A		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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	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)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		PASS	0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			37	103	37	103	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179447977	179447977	+	Splice_Site	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:179447977G>T	ENST00000263966.3	+	9	1560	c.1089G>T	c.(1087-1089)gcG>gcT	p.A363A	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Splice_Site_p.A298A	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	363	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A363A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CATTTTCTAGGTATGTAGGAA	0.363																																						uc003fkh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1087-1089)GCG>GCT		ubiquitin thiolesterase 13							129.0	127.0	128.0					3																	179447977		2203	4300	6503	SO:0001630	splice_region_variant	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179447977G>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1089-1G>T	3.37:g.179447977G>T						USP13_uc003fkf.2_Silent_p.A363A	p.A363A	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		9	1170	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		363					A8K2S3|B4DYF3|D3DNS2|Q96B25	Silent	SNP	ENST00000263966.3	37	c.1089G>T	CCDS3235.1																																																																																				PASS	0.363	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		Silent	56	270	56	270	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185146681	185146681	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:185146681G>T	ENST00000265026.3	+	2	646	c.312G>T	c.(310-312)acG>acT	p.T104T	MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Silent_p.T104T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.T104T(4)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ACAGCAACACGGTGGACGGAG	0.517																																						uc010hyf.2																			4	Substitution - coding silent(4)		lung(4)	ovary(2)|skin(1)	3						c.(310-312)ACG>ACT		mitogen-activated protein kinase kinase kinase							109.0	94.0	99.0					3																	185146681		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185146681G>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.312G>T	3.37:g.185146681G>T						MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Silent_p.T104T|MAP3K13_uc010hyg.2_5'UTR	p.T104T	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		3	578	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		104						Silent	SNP	ENST00000265026.3	37	c.312G>T	CCDS3270.1																																																																																				PASS	0.517	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		67	87	67	87	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189526287	189526287	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr3:189526287C>G	ENST00000264731.3	+	4	640	c.551C>G	c.(550-552)tCg>tGg	p.S184W	TP63_ENST00000440651.2_Missense_Mutation_p.S184W|TP63_ENST00000392461.3_Missense_Mutation_p.S90W|TP63_ENST00000418709.2_Missense_Mutation_p.S184W|TP63_ENST00000456148.1_Missense_Mutation_p.S90W|TP63_ENST00000382063.4_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.S90W|TP63_ENST00000392463.2_Missense_Mutation_p.S90W|TP63_ENST00000354600.5_Missense_Mutation_p.S90W|TP63_ENST00000320472.5_Missense_Mutation_p.S184W|TP63_ENST00000392460.3_Missense_Mutation_p.S184W	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	184			S -> L (in head and neck cancer). {ECO:0000269|PubMed:9662378}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.S184L(1)|p.S184W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCCAGCAGTCGAGCACCGCC	0.627										HNSCC(45;0.13)																												uc003fry.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(550-552)TCG>TGG		tumor protein p63 isoform 1							118.0	94.0	102.0					3																	189526287		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526287C>G	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.551C>G	3.37:g.189526287C>G	ENSP00000264731:p.Ser184Trp	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.S184W|TP63_uc003frz.2_Missense_Mutation_p.S184W|TP63_uc010hzc.1_Missense_Mutation_p.S184W|TP63_uc003fsa.2_Missense_Mutation_p.S90W|TP63_uc003fsb.2_Missense_Mutation_p.S90W|TP63_uc003fsc.2_Missense_Mutation_p.S90W|TP63_uc003fsd.2_Missense_Mutation_p.S90W|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.S65W	p.S184W	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	640	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		184		S -> L (in head and neck cancer).			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.551C>G	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384095	0.82792	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.74	5.74	0.90152	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.111526	0.64402	D	0.000006	D	0.99834	0.9925	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97365	0.9972	9	.	.	.	-4.9903	18.906	0.92462	0.0:1.0:0.0:0.0	.	184;184;90;90;90;90;184;184;184	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	W	184;184;184;184;184;90;90;90;90;90;90	ENSP00000264731:S184W;ENSP00000407144:S184W;ENSP00000317510:S184W;ENSP00000376253:S184W;ENSP00000394337:S184W;ENSP00000346614:S90W;ENSP00000401661:S90W;ENSP00000392488:S90W;ENSP00000376256:S90W;ENSP00000376254:S90W;ENSP00000389485:S90W	.	S	+	2	0	TP63	191008981	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	5.999000	0.70665	2.723000	0.93209	0.655000	0.94253	TCG		PASS	0.627	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		47	128	47	128	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5630331	5630331	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:5630331C>A	ENST00000344408.5	-	12	1894	c.1841G>T	c.(1840-1842)aGc>aTc	p.S614I	EVC2_ENST00000344938.1_Missense_Mutation_p.S614I|EVC2_ENST00000310917.2_Missense_Mutation_p.S534I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	614					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S614I(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCAGCGGTGCTCAGAAGGCC	0.517																																						uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(1840-1842)AGC>ATC		limbin							117.0	103.0	107.0					4																	5630331		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5630331C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1841G>T	4.37:g.5630331C>A	ENSP00000342144:p.Ser614Ile					EVC2_uc011bwb.1_Missense_Mutation_p.S54I|EVC2_uc003gik.2_Missense_Mutation_p.S534I	p.S614I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			12	1895	-			614					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1841G>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238648	0.58995	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.79554	-1.28;-1.28;-1.28	4.89	-3.3	0.05003	.	0.126245	0.53938	D	0.000044	T	0.81945	0.4930	M	0.69823	2.125	0.09310	N	0.999999	D	0.67145	0.996	P	0.58172	0.834	T	0.75374	-0.3340	10	0.62326	D	0.03	-4.0977	7.7488	0.28886	0.0:0.1909:0.1356:0.6735	.	614	Q86UK5	LBN_HUMAN	I	614;534;614	ENSP00000339954:S614I;ENSP00000311683:S534I;ENSP00000342144:S614I	ENSP00000311683:S534I	S	-	2	0	EVC2	5681232	0.092000	0.21681	0.003000	0.11579	0.987000	0.75469	0.057000	0.14279	-0.559000	0.06110	0.484000	0.47621	AGC		PASS	0.517	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		30	119	30	119	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13603309	13603309	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:13603309A>C	ENST00000040738.5	-	10	5350	c.5215T>G	c.(5215-5217)Ttt>Gtt	p.F1739V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1739						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F1739V(1)									CAGATCACAAAGTTATCACTT	0.512																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(5215-5217)TTT>GTT		biorientation of chromosomes in cell division							157.0	150.0	153.0					4																	13603309		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603309A>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5215T>G	4.37:g.13603309A>C	ENSP00000040738:p.Phe1739Val					BOD1L_uc010idr.1_Missense_Mutation_p.F1076V	p.F1739V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5332	-			1739					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5215T>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	8.279	0.815149	0.16607	.	.	ENSG00000038219	ENST00000040738	T	0.10288	2.89	4.81	3.59	0.41128	.	0.569159	0.16981	N	0.191711	T	0.08802	0.0218	L	0.29908	0.895	0.09310	N	1	B	0.30068	0.267	B	0.30401	0.115	T	0.26744	-1.0094	10	0.39692	T	0.17	-2.3574	9.7728	0.40601	0.8462:0.0:0.0:0.1538	.	1739	Q8NFC6	BOD1L_HUMAN	V	1739	ENSP00000040738:F1739V	ENSP00000040738:F1739V	F	-	1	0	BOD1L	13212407	0.076000	0.21285	0.002000	0.10522	0.185000	0.23345	1.890000	0.39728	0.756000	0.33013	0.459000	0.35465	TTT		PASS	0.512	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		66	230	66	230	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26483347	26483347	+	Silent	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:26483347C>A	ENST00000295589.3	-	5	1394	c.1200G>T	c.(1198-1200)gtG>gtT	p.V400V		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	400					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.V400V(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CCTCCTCCCCCACCTCTCCCC	0.627																																						uc003gse.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|pancreas(1)	4						c.(1198-1200)GTG>GTT		cholecystokinin A receptor	Ceruletide(DB00403)						73.0	76.0	75.0					4																	26483347		2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483347C>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1200G>T	4.37:g.26483347C>A							p.V400V	NM_000730	NP_000721	P32238	CCKAR_HUMAN			5	1353	-		Breast(46;0.0503)	400			Cytoplasmic (Potential).		B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.1200G>T	CCDS3438.1																																																																																				PASS	0.627	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			30	106	30	106	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41684398	41684398	+	Missense_Mutation	SNP	T	T	C	rs550261595		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:41684398T>C	ENST00000313860.7	+	21	2668	c.2614T>C	c.(2614-2616)Tgg>Cgg	p.W872R	LIMCH1_ENST00000511496.1_Missense_Mutation_p.W712R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.W884R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.W705R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.W725R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.W1256R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.W705R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.W871R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.W795R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.W872R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.W712R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.W717R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	872					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.W872R(1)|p.W1256R(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGACAGAAGATGGAAGAAATC	0.388													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15921	0.0		0.0	False		,,,				2504	0.0					uc003gvu.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2614-2616)TGG>CGG		LIM and calponin homology domains 1 isoform a							91.0	88.0	89.0					4																	41684398		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41684398T>C	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2614T>C	4.37:g.41684398T>C	ENSP00000316891:p.Trp872Arg					LIMCH1_uc003gvv.3_Missense_Mutation_p.W872R|LIMCH1_uc003gvw.3_Missense_Mutation_p.W871R|LIMCH1_uc003gvx.3_Missense_Mutation_p.W884R|LIMCH1_uc003gwe.3_Missense_Mutation_p.W795R|LIMCH1_uc003gvy.3_Missense_Mutation_p.W700R|LIMCH1_uc003gwa.3_Missense_Mutation_p.W712R|LIMCH1_uc003gvz.3_Missense_Mutation_p.W1256R|LIMCH1_uc011byu.1_Missense_Mutation_p.W705R|LIMCH1_uc003gwc.3_Missense_Mutation_p.W717R|LIMCH1_uc003gwd.3_Missense_Mutation_p.W705R|LIMCH1_uc011byv.1_Missense_Mutation_p.W622R|LIMCH1_uc011byw.1_Missense_Mutation_p.W171R	p.W872R	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			21	2668	+			872					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.2614T>C	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	T	3.727	-0.056306	0.07362	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	T;T;T;T;T;T;T;T;T;T;T;T	0.42900	1.04;1.61;1.6;1.54;1.05;1.58;0.96;1.03;1.0;1.0;1.01;1.0	5.22	1.33	0.21861	.	0.847964	0.10489	N	0.668619	T	0.26085	0.0636	N	0.14661	0.345	0.22639	N	0.9989	B;B;B;B;B;B;B;B;B;B;B;B	0.25563	0.013;0.002;0.018;0.0;0.014;0.008;0.129;0.004;0.076;0.008;0.014;0.01	B;B;B;B;B;B;B;B;B;B;B;B	0.31946	0.006;0.017;0.013;0.0;0.018;0.018;0.138;0.039;0.047;0.013;0.03;0.021	T	0.31024	-0.9958	10	0.44086	T	0.13	-0.9297	5.5938	0.17315	0.1317:0.407:0.385:0.0763	.	712;622;705;795;705;717;1256;725;884;871;872;872	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	R	725;871;872;872;795;884;1256;712;1255;712;705;717;705;224	ENSP00000425222:W725R;ENSP00000424825:W871R;ENSP00000424645:W872R;ENSP00000316891:W872R;ENSP00000427045:W795R;ENSP00000424437:W884R;ENSP00000425631:W1256R;ENSP00000421242:W712R;ENSP00000426334:W712R;ENSP00000422864:W705R;ENSP00000379840:W717R;ENSP00000371172:W705R	ENSP00000316891:W872R	W	+	1	0	LIMCH1	41379155	0.914000	0.31030	0.884000	0.34674	0.045000	0.14185	0.637000	0.24659	0.098000	0.17522	-0.468000	0.05107	TGG		PASS	0.388	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		19	39	19	39	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42119669	42119669	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:42119669C>G	ENST00000502486.1	-	6	2050	c.1471G>C	c.(1471-1473)Gtc>Ctc	p.V491L	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	491	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.V487L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GCGTGACCGACAGCGTCGCTG	0.522																																						uc003gwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1471-1473)GTC>CTC		BEN domain containing 4 isoform a							37.0	37.0	37.0					4																	42119669		1845	4092	5937	SO:0001583	missense	389206							g.chr4:42119669C>G	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1471G>C	4.37:g.42119669C>G	ENSP00000421169:p.Val491Leu					BEND4_uc003gwm.2_3'UTR	p.V491L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			6	2051	-			491			BEN.		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.1471G>C	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254879	0.95336	.	.	ENSG00000188848	ENST00000411720;ENST00000502486	.	.	.	5.41	5.41	0.78517	BEN domain (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.70666	-0.4809	9	0.87932	D	0	-17.8249	19.5583	0.95363	0.0:1.0:0.0:0.0	.	491	Q6ZU67	BEND4_HUMAN	L	362;491	.	ENSP00000412495:V362L	V	-	1	0	BEND4	41814426	1.000000	0.71417	0.976000	0.42696	0.825000	0.46686	7.445000	0.80570	2.691000	0.91804	0.561000	0.74099	GTC		PASS	0.522	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		4	13	4	13	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48514564	48514564	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:48514564C>T	ENST00000503238.1	-	54	8078	c.8079G>A	c.(8077-8079)caG>caA	p.Q2693Q	FRYL_ENST00000537810.1_Silent_p.Q2693Q|FRYL_ENST00000507873.2_Silent_p.Q89Q|FRYL_ENST00000264319.7_Silent_p.Q89Q|FRYL_ENST00000358350.4_Silent_p.Q2693Q			O94915	FRYL_HUMAN	FRY-like	2693					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Q2693Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGACAGCATCTGATTGACGT	0.502																																						uc003gyh.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(8077-8079)CAG>CAA		furry-like							85.0	90.0	89.0					4																	48514564		2069	4199	6268	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48514564C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8079G>A	4.37:g.48514564C>T						FRYL_uc003gyf.1_Silent_p.Q89Q|FRYL_uc003gyg.1_Silent_p.Q1389Q	p.Q2693Q	NM_015030	NP_055845	O94915	FRYL_HUMAN			57	8684	-			2693					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.8079G>A	CCDS43227.1																																																																																				PASS	0.502	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			17	90	17	90	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68938072	68938072	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:68938072C>G	ENST00000356291.2	-	5	542	c.483G>C	c.(481-483)ttG>ttC	p.L161F	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	161	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L161F(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGTTTATGGTCAAAGACAATT	0.318																																						uc003hdt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)TTG>TTC		transmembrane protease, serine 11F							86.0	86.0	86.0					4																	68938072		2203	4296	6499	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68938072C>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.483G>C	4.37:g.68938072C>G	ENSP00000348639:p.Leu161Phe					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.L161F	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			5	532	-			161			SEA.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.483G>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123513	0.20959	.	.	ENSG00000198092	ENST00000356291	T	0.51325	0.71	6.06	3.39	0.38822	SEA (3);	0.000000	0.44285	D	0.000462	T	0.44787	0.1310	M	0.78456	2.415	0.32528	N	0.535295	B	0.15719	0.014	B	0.23419	0.046	T	0.48080	-0.9066	10	0.29301	T	0.29	.	5.2564	0.15550	0.1485:0.6317:0.143:0.0768	.	161	Q6ZWK6	TM11F_HUMAN	F	161	ENSP00000348639:L161F	ENSP00000348639:L161F	L	-	3	2	TMPRSS11F	68620667	0.983000	0.35010	1.000000	0.80357	0.419000	0.31324	-0.040000	0.12104	0.430000	0.26230	-0.156000	0.13503	TTG		PASS	0.318	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		13	163	13	163	---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70155405	70155405	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:70155405A>G	ENST00000335568.5	+	4	1027	c.1025A>G	c.(1024-1026)aAt>aGt	p.N342S	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	342					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.N342S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTGATGGGAATAAACCAGAT	0.373																																						uc003hej.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1024-1026)AAT>AGT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						96.0	126.0	115.0					4																	70155405		1490	2705	4195	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70155405A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1025A>G	4.37:g.70155405A>G	ENSP00000334276:p.Asn342Ser					UGT2B28_uc010ihr.2_Intron	p.N342S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			4	1027	+			342					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1025A>G	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	1.164	-0.643065	0.03531	.	.	ENSG00000135226	ENST00000335568	T	0.60920	0.15	1.85	1.85	0.25348	.	0.240574	0.32372	U	0.006194	T	0.40619	0.1124	L	0.28400	0.85	0.21184	N	0.999761	B	0.02656	0.0	B	0.04013	0.001	T	0.35301	-0.9794	10	0.56958	D	0.05	.	7.3524	0.26700	1.0:0.0:0.0:0.0	.	342	Q9BY64	UDB28_HUMAN	S	342	ENSP00000334276:N342S	ENSP00000334276:N342S	N	+	2	0	UGT2B28	70189994	0.769000	0.28531	0.214000	0.23707	0.019000	0.09904	4.715000	0.61909	0.846000	0.35142	0.155000	0.16302	AAT		PASS	0.373	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		45	170	45	170	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	73957392	73957392	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:73957392T>C	ENST00000358602.4	-	29	6069	c.5953A>G	c.(5953-5955)Aca>Gca	p.T1985A	ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1734A|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1872A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1985	Ser-rich.|Thr-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T1985A(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGCCATTTGTAGATGTACCA	0.468																																						uc003hgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(5953-5955)ACA>GCA		ankyrin repeat domain protein 17 isoform a							269.0	248.0	255.0					4																	73957392		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957392T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5953A>G	4.37:g.73957392T>C	ENSP00000351416:p.Thr1985Ala					ANKRD17_uc003hgo.2_Missense_Mutation_p.T1872A|ANKRD17_uc003hgq.2_Missense_Mutation_p.T1734A|ANKRD17_uc003hgr.2_Missense_Mutation_p.T1984A	p.T1985A	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	6070	-	Breast(15;0.000295)		1985			Ser-rich.|Thr-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5953A>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	7.635	0.679654	0.14907	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.65916	-0.18;-0.15;-0.15	5.39	2.9	0.33743	.	0.264455	0.31963	N	0.006788	T	0.44993	0.1320	L	0.38175	1.15	0.26037	N	0.98166	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.0	T	0.28996	-1.0026	10	0.36615	T	0.2	.	3.8409	0.08914	0.164:0.2053:0.0:0.6307	.	1984;1734;1985;1872	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	A	1985;1392;1734;1872;369	ENSP00000351416:T1985A;ENSP00000332265:T1734A;ENSP00000427151:T1872A	ENSP00000332265:T1734A	T	-	1	0	ANKRD17	74176256	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.628000	0.37060	0.464000	0.27142	0.477000	0.44152	ACA		PASS	0.468	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		85	552	85	552	---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86896082	86896082	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:86896082G>T	ENST00000395184.1	+	7	1240	c.774G>T	c.(772-774)gtG>gtT	p.V258V	ARHGAP24_ENST00000264343.4_Silent_p.V165V|ARHGAP24_ENST00000395183.2_Silent_p.V163V	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	258	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.V165V(1)|p.V258V(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTTTGCCAGTGGTAAATTACA	0.348																																						uc003hpk.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(772-774)GTG>GTT		Rho GTPase activating protein 24 isoform 1							96.0	98.0	98.0					4																	86896082		2203	4300	6503	SO:0001819	synonymous_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86896082G>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.774G>T	4.37:g.86896082G>T						ARHGAP24_uc003hpl.2_Silent_p.V163V|ARHGAP24_uc010ikf.2_Silent_p.V173V|ARHGAP24_uc003hpm.2_Silent_p.V165V	p.V258V	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	7	1223	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	258			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	c.774G>T	CCDS34025.1																																																																																				PASS	0.348	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		28	76	28	76	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100503108	100503108	+	Silent	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:100503108C>G	ENST00000265517.5	+	2	311	c.108C>G	c.(106-108)ctC>ctG	p.L36L	MTTP_ENST00000511045.1_Silent_p.L63L|MTTP_ENST00000457717.1_Silent_p.L36L|MTTP_ENST00000422897.2_Silent_p.L36L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	36	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L36L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TGTACAAGCTCACGTACTCCA	0.458																																						uc003hvc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(106-108)CTC>CTG		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						163.0	142.0	149.0					4																	100503108		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100503108C>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.108C>G	4.37:g.100503108C>G						MTTP_uc011cej.1_Silent_p.L63L|MTTP_uc003hvb.2_Silent_p.L36L	p.L36L	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	3	364	+			36			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.108C>G	CCDS3651.1																																																																																				PASS	0.458	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			48	125	48	125	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104640781	104640781	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:104640781C>T	ENST00000304883.2	-	1	192	c.52G>A	c.(52-54)Ggt>Agt	p.G18S		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	18					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.G18S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCGTCTGCACCCACGCCTCCA	0.687																																						uc003hxe.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(52-54)GGT>AGT		tachykinin receptor 3							37.0	43.0	41.0					4																	104640781		2202	4297	6499	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640781C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.52G>A	4.37:g.104640781C>T	ENSP00000303325:p.Gly18Ser						p.G18S	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	195	-		Hepatocellular(203;0.217)	18			Extracellular (Potential).		Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.52G>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912938	0.33815	.	.	ENSG00000169836	ENST00000304883	T	0.63580	-0.05	3.79	0.866	0.19079	.	2.348000	0.02229	N	0.064766	T	0.47619	0.1455	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18903	-1.0322	10	0.15952	T	0.53	.	5.2343	0.15439	0.0:0.619:0.1735:0.2075	.	18	P29371	NK3R_HUMAN	S	18	ENSP00000303325:G18S	ENSP00000303325:G18S	G	-	1	0	TACR3	104860230	0.002000	0.14202	0.002000	0.10522	0.174000	0.22865	1.428000	0.34892	0.778000	0.33520	0.313000	0.20887	GGT		PASS	0.687	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		10	24	10	24	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113540013	113540013	+	Silent	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:113540013A>G	ENST00000505019.1	-	6	1310	c.1185T>C	c.(1183-1185)gaT>gaC	p.D395D	C4orf21_ENST00000445203.2_Silent_p.D364D|C4orf21_ENST00000309071.5_Silent_p.D395D	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		395						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D395D(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCCAGGATGGATCATTATTAC	0.333																																						uc003iau.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1183-1185)GAT>GAC		prematurely terminated mRNA decay factor-like							101.0	103.0	102.0					4																	113540013		2202	4299	6501	SO:0001819	synonymous_variant	55345					integral to membrane	zinc ion binding	g.chr4:113540013A>G																												ENST00000505019.1:c.1185T>C	4.37:g.113540013A>G						C4orf21_uc003iaw.2_Silent_p.D395D	p.D395D	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1396	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.1185T>C																																																																																					PASS	0.333	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			42	134	42	134	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073364	134073364	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:134073364G>T	ENST00000264360.5	+	1	2895	c.2069G>T	c.(2068-2070)gGg>gTg	p.G690V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	690	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G690V(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ggcgggggcgggagcggaggc	0.706																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2068-2070)GGG>GTG		protocadherin 10 isoform 1 precursor							35.0	42.0	40.0					4																	134073364		2197	4294	6491	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073364G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2069G>T	4.37:g.134073364G>T	ENSP00000264360:p.Gly690Val					PCDH10_uc003igz.2_Missense_Mutation_p.G690V	p.G690V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2895	+			690			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2069G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579924	0.46006	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52754	0.65	4.48	4.48	0.54585	.	0.000000	0.44285	D	0.000474	T	0.26774	0.0655	N	0.08118	0	0.58432	D	0.999999	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.07424	-1.0773	10	0.33141	T	0.24	.	11.3485	0.49575	0.0:0.0:0.8183:0.1817	.	690;690	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	690	ENSP00000264360:G690V	ENSP00000264360:G690V	G	+	2	0	PCDH10	134292814	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.184000	0.58323	2.322000	0.78497	0.561000	0.74099	GGG		PASS	0.706	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	29	11	29	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073527	134073527	+	Silent	SNP	G	G	A	rs199885169		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:134073527G>A	ENST00000264360.5	+	1	3058	c.2232G>A	c.(2230-2232)aaG>aaA	p.K744K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	744					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K744K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAAAGAGAAGAAGCTCAACA	0.607																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2230-2232)AAG>AAA		protocadherin 10 isoform 1 precursor							84.0	90.0	88.0					4																	134073527		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073527G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2232G>A	4.37:g.134073527G>A						PCDH10_uc003igz.2_Silent_p.K744K	p.K744K	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3058	+			744			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2232G>A	CCDS34063.1																																																																																				PASS	0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		14	66	14	66	---	---	---	---
SH3D19	152503	broad.mit.edu	37	4	152058934	152058934	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:152058934T>C	ENST00000409252.2	-	14	2313	c.1606A>G	c.(1606-1608)Aac>Gac	p.N536D	SH3D19_ENST00000424281.1_Missense_Mutation_p.N477D|SH3D19_ENST00000304527.4_Missense_Mutation_p.N536D|SH3D19_ENST00000427414.2_Missense_Mutation_p.N477D|SH3D19_ENST00000514152.1_Missense_Mutation_p.N513D|SH3D19_ENST00000409598.4_Missense_Mutation_p.N513D|RP11-372K14.2_ENST00000603472.1_RNA|SH3D19_ENST00000455740.1_Missense_Mutation_p.N513D			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	536	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.N533D(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTCTACAGTTCCCTCTGTAC	0.353																																						uc010ipl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1606-1608)AAC>GAC		SH3 domain containing 19 isoform a							101.0	96.0	97.0					4																	152058934		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152058934T>C	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1606A>G	4.37:g.152058934T>C	ENSP00000386848:p.Asn536Asp					SH3D19_uc003imb.2_Missense_Mutation_p.N291D|SH3D19_uc003imc.2_Missense_Mutation_p.N477D|SH3D19_uc003ime.2_Missense_Mutation_p.N513D|SH3D19_uc010ipm.2_Missense_Mutation_p.N513D	p.N536D	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			15	2696	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	536			SH3 2.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.1606A>G	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352972	0.61293	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.23	5.23	0.72850	Src homology-3 domain (4);	0.717394	0.13747	N	0.365527	T	0.32526	0.0832	N	0.05031	-0.125	0.28027	N	0.93431	B;B;B;B	0.17465	0.001;0.003;0.006;0.022	B;B;B;B	0.25614	0.003;0.01;0.026;0.062	T	0.32508	-0.9904	10	0.52906	T	0.07	-2.9384	15.4349	0.75137	0.0:0.0:0.0:1.0	.	536;513;477;291	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	D	513;536;513;477;477;536;513	ENSP00000387030:N513D;ENSP00000302913:N536D;ENSP00000416708:N513D;ENSP00000404542:N477D;ENSP00000415694:N477D;ENSP00000386848:N536D;ENSP00000423449:N513D	ENSP00000302913:N536D	N	-	1	0	SH3D19	152278384	1.000000	0.71417	0.986000	0.45419	0.861000	0.49209	7.315000	0.78998	2.104000	0.64026	0.528000	0.53228	AAC		PASS	0.353	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		29	114	29	114	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156618161	156618161	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:156618161C>G	ENST00000296518.7	+	3	351	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q48E|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q48E|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q48E|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q48E|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q48E|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	48					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.Q48E(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCCCATCTGTCAAGACATTCC	0.478																																						uc003iov.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(142-144)CAA>GAA		guanylate cyclase 1, soluble, alpha 3 isoform A							99.0	96.0	97.0					4																	156618161		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156618161C>G		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.142C>G	4.37:g.156618161C>G	ENSP00000296518:p.Gln48Glu					GUCY1A3_uc003iou.2_Missense_Mutation_p.Q48E|GUCY1A3_uc010iqc.2_Missense_Mutation_p.Q48E|GUCY1A3_uc003iow.2_Missense_Mutation_p.Q48E|GUCY1A3_uc010iqd.2_Missense_Mutation_p.Q48E|GUCY1A3_uc003iox.2_Missense_Mutation_p.Q48E|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.Q48E|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.Q48E	p.Q48E	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	4	678	+	all_hematologic(180;0.24)	Renal(120;0.0854)	48					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.142C>G	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576900	0.28092	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.64;-1.78;-1.78;-1.78	5.93	3.08	0.35506	.	0.704327	0.13263	N	0.401170	T	0.67050	0.2852	L	0.34521	1.04	0.25282	N	0.989428	B;B;B	0.12630	0.006;0.006;0.001	B;B;B	0.14023	0.01;0.01;0.0	T	0.52660	-0.8546	10	0.02654	T	1	.	4.1143	0.10074	0.3118:0.4984:0.1097:0.0802	.	48;48;48	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	E	48	ENSP00000424361:Q48E;ENSP00000421493:Q48E;ENSP00000426968:Q48E;ENSP00000412201:Q48E;ENSP00000296518:Q48E;ENSP00000426040:Q48E	ENSP00000296518:Q48E	Q	+	1	0	GUCY1A3	156837611	0.990000	0.36364	0.002000	0.10522	0.657000	0.38888	1.593000	0.36686	0.812000	0.34326	0.591000	0.81541	CAA		PASS	0.478	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			19	93	19	93	---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156723541	156723541	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:156723541A>G	ENST00000264424.8	+	10	1305	c.1223A>G	c.(1222-1224)cAc>cGc	p.H408R	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.H430R|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.H340R|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.H340R|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.H388R|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.H383R|GUCY1B3_ENST00000503520.1_Intron	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	408					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.H408R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GAGCTGCGGCACAAGCGTCCA	0.478																																						uc003ipc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)CAC>CGC		guanylate cyclase 1, soluble, beta 3							112.0	108.0	109.0					4																	156723541		2041	4213	6254	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156723541A>G	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1223A>G	4.37:g.156723541A>G	ENSP00000264424:p.His408Arg					GUCY1B3_uc011cio.1_Missense_Mutation_p.H430R|GUCY1B3_uc011cip.1_Missense_Mutation_p.H388R|GUCY1B3_uc003ipd.2_Missense_Mutation_p.H336R|GUCY1B3_uc010iqf.2_Intron|GUCY1B3_uc010iqg.2_Missense_Mutation_p.H379R|GUCY1B3_uc011ciq.1_Missense_Mutation_p.H336R	p.H408R	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	10	1390	+	all_hematologic(180;0.24)	Renal(120;0.0854)	408					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.1223A>G	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.582760	0.65992	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000513437	D;D;D;T;D;D	0.82255	-1.59;-1.58;-1.58;-1.19;-1.58;-1.59	5.9	5.9	0.94986	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	L	0.31120	0.905	0.80722	D	1	D;B;B;B	0.58620	0.983;0.112;0.086;0.27	P;B;B;B	0.48982	0.597;0.082;0.099;0.132	T	0.75875	-0.3163	10	0.14656	T	0.56	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	388;430;383;408	B7Z426;E9PCN2;D6RC99;Q02153	.;.;.;GCYB1_HUMAN	R	340;430;388;383;408;340	ENSP00000427226:H340R;ENSP00000426786:H430R;ENSP00000426319:H388R;ENSP00000422313:H383R;ENSP00000264424:H408R;ENSP00000425065:H340R	ENSP00000264424:H408R	H	+	2	0	GUCY1B3	156942991	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	CAC		PASS	0.478	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			14	58	14	58	---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189065247	189065247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr4:189065247C>A	ENST00000332517.3	+	5	956	c.816C>A	c.(814-816)tgC>tgA	p.C272*	TRIML1_ENST00000507581.1_3'UTR|RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	272	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.C272*(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAGTCTGTGCCGCATCACGG	0.537																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(814-816)TGC>TGA		tripartite motif family-like 1							65.0	67.0	66.0					4																	189065247		2203	4300	6503	SO:0001587	stop_gained	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189065247C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.816C>A	4.37:g.189065247C>A	ENSP00000327738:p.Cys272*					TRIML1_uc003izn.1_5'UTR	p.C272*	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	5	931	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	272			B30.2/SPRY.		Q96BE5	Nonsense_Mutation	SNP	ENST00000332517.3	37	c.816C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.508027	0.85282	.	.	ENSG00000184108	ENST00000332517	.	.	.	5.29	1.04	0.20106	.	0.452187	0.21342	N	0.076115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-10.1316	6.7579	0.23524	0.0:0.5294:0.0:0.4706	.	.	.	.	X	272	.	ENSP00000327738:C272X	C	+	3	2	TRIML1	189302241	0.388000	0.25197	0.951000	0.38953	0.271000	0.26615	0.150000	0.16263	0.287000	0.22375	-0.157000	0.13467	TGC		PASS	0.537	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		3	39	3	39	---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599690	3599690	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:3599690A>G	ENST00000302006.3	+	2	680	c.628A>G	c.(628-630)Acc>Gcc	p.T210A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	210					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T210A(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGGCAGCGACACCGAGGGCGA	0.627																																						uc003jde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(628-630)ACC>GCC		iroquois homeobox protein 1							69.0	62.0	65.0					5																	3599690		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599690A>G	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.628A>G	5.37:g.3599690A>G	ENSP00000305244:p.Thr210Ala						p.T210A	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	680	+			210					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.628A>G	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	A	3.640	-0.073758	0.07184	.	.	ENSG00000170549	ENST00000302006	T	0.57752	0.38	4.65	4.65	0.58169	.	0.266888	0.41605	D	0.000842	T	0.27798	0.0684	N	0.03608	-0.345	0.35028	D	0.758472	B	0.26809	0.16	B	0.20384	0.029	T	0.32798	-0.9893	10	0.17832	T	0.49	.	14.084	0.64944	1.0:0.0:0.0:0.0	.	210	P78414	IRX1_HUMAN	A	210	ENSP00000305244:T210A	ENSP00000305244:T210A	T	+	1	0	IRX1	3652690	0.998000	0.40836	0.978000	0.43139	0.425000	0.31504	3.367000	0.52350	1.699000	0.51192	0.496000	0.49642	ACC		PASS	0.627	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		30	50	30	50	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5186346	5186346	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:5186346G>A	ENST00000274181.7	+	5	1083	c.945G>A	c.(943-945)gtG>gtA	p.V315V	ADAMTS16_ENST00000511368.1_Silent_p.V315V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	315	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V315V(3)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCACCTACGTGCTCACGATAC	0.478																																						uc003jdl.2																			3	Substitution - coding silent(3)	p.V315V(1)	lung(2)|large_intestine(1)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(943-945)GTG>GTA		ADAM metallopeptidase with thrombospondin type 1							87.0	89.0	89.0					5																	5186346		2075	4207	6282	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5186346G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.945G>A	5.37:g.5186346G>A						ADAMTS16_uc003jdk.1_Silent_p.V315V|ADAMTS16_uc003jdj.1_Silent_p.V315V	p.V315V	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			5	1083	+			315			Peptidase M12B.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.945G>A	CCDS43299.1																																																																																				PASS	0.478	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		7	98	7	98	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19483410	19483410	+	Splice_Site	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:19483410C>A	ENST00000507958.1	-	14	2872	c.1882G>T	c.(1882-1884)Gca>Tca	p.A628S	CDH18_ENST00000382275.1_Splice_Site_p.A628S|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Splice_Site_p.A628S			Q13634	CAD18_HUMAN	cadherin 18, type 2	628					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A628S(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATGACTTACCCAGGAGAATG	0.458																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1882-1884)GCA>TCA		cadherin 18, type 2 preproprotein							55.0	57.0	56.0					5																	19483410		2203	4300	6503	SO:0001630	splice_region_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483410C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1882+1G>T	5.37:g.19483410C>A						CDH18_uc003jgd.2_Missense_Mutation_p.A628S|CDH18_uc011cnm.1_3'UTR	p.A628S	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2259	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		628			Helical; (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1882G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035988	0.75617	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.60171	0.21;0.21;0.21	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	L	0.38175	1.15	0.58432	D	0.999999	P	0.47409	0.895	P	0.45071	0.468	T	0.50915	-0.8771	9	.	.	.	.	18.0513	0.89349	0.0:1.0:0.0:0.0	.	628	Q13634	CAD18_HUMAN	S	628	ENSP00000371710:A628S;ENSP00000425093:A628S;ENSP00000274170:A628S	.	A	-	1	0	CDH18	19519167	1.000000	0.71417	0.982000	0.44146	0.940000	0.58332	7.487000	0.81328	2.615000	0.88500	0.655000	0.94253	GCA		PASS	0.458	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	Missense_Mutation	15	92	15	92	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21752313	21752313	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:21752313G>T	ENST00000382254.1	-	15	3004	c.1918C>A	c.(1918-1920)Cag>Aag	p.Q640K	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.Q600K|CDH12_ENST00000504376.2_Missense_Mutation_p.Q640K|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	640					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q640K(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTTTCTTCTGCCTTCGCAGT	0.413										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1918-1920)CAG>AAG		cadherin 12, type 2 preproprotein							82.0	79.0	80.0					5																	21752313		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752313G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1918C>A	5.37:g.21752313G>T	ENSP00000371689:p.Gln640Lys	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.Q600K|CDH12_uc003jgk.2_Missense_Mutation_p.Q640K|uc003jgj.2_Intron	p.Q640K	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2376	-			640			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1918C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896258	0.72639	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.75704	-0.96;-0.96;-0.96	5.44	5.44	0.79542	Cadherin, cytoplasmic domain (1);	0.052474	0.85682	D	0.000000	T	0.72358	0.3450	L	0.28014	0.82	0.58432	D	0.999993	B;B	0.33000	0.215;0.393	B;B	0.42692	0.395;0.321	T	0.72017	-0.4417	10	0.48119	T	0.1	.	19.2505	0.93923	0.0:0.0:1.0:0.0	.	600;640	B7Z2U6;P55289	.;CAD12_HUMAN	K	640;640;600	ENSP00000423577:Q640K;ENSP00000371689:Q640K;ENSP00000428786:Q600K	ENSP00000371689:Q640K	Q	-	1	0	CDH12	21788070	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.476000	0.97823	2.562000	0.86427	0.591000	0.81541	CAG		PASS	0.413	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		15	213	15	213	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488107	24488107	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:24488107G>A	ENST00000264463.4	-	12	2539	c.2032C>T	c.(2032-2034)Cct>Tct	p.P678S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	678					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P678S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGGCTGCAGGATTCCTCAGG	0.483										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(2032-2034)CCT>TCT		cadherin 10, type 2 preproprotein							60.0	64.0	63.0					5																	24488107		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488107G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2032C>T	5.37:g.24488107G>A	ENSP00000264463:p.Pro678Ser	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.P678S	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2364	-			678			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2032C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538148	0.65085	.	.	ENSG00000040731	ENST00000264463	T	0.77620	-1.11	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	M	0.84683	2.71	0.53005	D	0.999961	D	0.76494	0.999	D	0.68353	0.957	D	0.89262	0.3598	10	0.48119	T	0.1	.	18.2977	0.90153	0.0:0.0:1.0:0.0	.	678	Q9Y6N8	CAD10_HUMAN	S	678	ENSP00000264463:P678S	ENSP00000264463:P678S	P	-	1	0	CDH10	24523864	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	7.860000	0.86993	2.580000	0.87095	0.655000	0.94253	CCT		PASS	0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		35	168	35	168	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24498605	24498605	+	Missense_Mutation	SNP	C	C	T	rs199776417		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:24498605C>T	ENST00000264463.4	-	9	1924	c.1417G>A	c.(1417-1419)Gtg>Atg	p.V473M	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	473	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V473M(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAAACAGCCACGCGTGTTGTC	0.388										HNSCC(23;0.051)			C|||	1	0.000199681	0.0	0.0	5008	,	,		15570	0.0		0.001	False		,,,				2504	0.0					uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1417-1419)GTG>ATG		cadherin 10, type 2 preproprotein							83.0	83.0	83.0					5																	24498605		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24498605C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1417G>A	5.37:g.24498605C>T	ENSP00000264463:p.Val473Met	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.V473M	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1749	-			473			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1417G>A	CCDS3892.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.94	2.685193	0.47991	.	.	ENSG00000040731	ENST00000264463	T	0.53640	0.61	5.53	5.53	0.82687	Cadherin (5);Cadherin-like (1);	0.058260	0.64402	D	0.000002	T	0.72630	0.3484	M	0.87269	2.87	0.50171	D	0.999856	D	0.69078	0.997	D	0.65010	0.931	T	0.77571	-0.2538	10	0.72032	D	0.01	.	18.4486	0.90695	0.0:1.0:0.0:0.0	.	473	Q9Y6N8	CAD10_HUMAN	M	473	ENSP00000264463:V473M	ENSP00000264463:V473M	V	-	1	0	CDH10	24534362	1.000000	0.71417	0.952000	0.39060	0.385000	0.30292	7.441000	0.80485	2.613000	0.88420	0.655000	0.94253	GTG		PASS	0.388	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		19	196	19	196	---	---	---	---
RAD1	5810	broad.mit.edu	37	5	34911720	34911720	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:34911720C>T	ENST00000382038.2	-	4	1924	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	RAD1_ENST00000341754.4_Missense_Mutation_p.E169K	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	169					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|meiotic recombination checkpoint (GO:0051598)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|substantia nigra development (GO:0021762)	chromosome (GO:0005694)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|damaged DNA binding (GO:0003684)|exodeoxyribonuclease III activity (GO:0008853)	p.E169K(1)		endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ATATCCAATTCAGAAAATGCT	0.418								Other conserved DNA damage response genes																														uc003jix.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GAA>AAA	Other_conserved_DNA_damage_response_genes	RAD1 homolog							106.0	108.0	107.0					5																	34911720		2203	4300	6503	SO:0001583	missense	5810				DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding	g.chr5:34911720C>T	AF074717	CCDS3905.1	5p13	2014-08-08	2014-08-08		ENSG00000113456	ENSG00000113456	3.1.11.2		9806	protein-coding gene	gene with protein product	"""exonuclease homolog RAD1"", ""checkpoint control protein HRAD1"", ""cell cycle checkpoint protein Hrad1"", ""Rad1-like DNA damage checkpoint"", ""DNA repair exonuclease REC1"""	603153	"""RAD1 (S. pombe) homolog"", ""RAD1 homolog (S. pombe)"""			9716408, 9828137	Standard	NR_026591		Approved	HRAD1, REC1	uc003jix.3	O60671	OTTHUMG00000090783	ENST00000382038.2:c.505G>A	5.37:g.34911720C>T	ENSP00000371469:p.Glu169Lys					RAD1_uc003jiw.2_Missense_Mutation_p.E60K|RAD1_uc003jiy.2_Missense_Mutation_p.E169K	p.E169K	NM_002853	NP_002844	O60671	RAD1_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		4	834	-	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	169					O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Missense_Mutation	SNP	ENST00000382038.2	37	c.505G>A	CCDS3905.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730745	0.96856	.	.	ENSG00000113456	ENST00000382038;ENST00000341754;ENST00000542494	T;T	0.29397	1.57;1.57	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.92923	3.36	0.80722	D	1	P	0.38473	0.633	P	0.47827	0.558	T	0.66767	-0.5840	10	0.66056	D	0.02	.	19.668	0.95900	0.0:1.0:0.0:0.0	.	169	O60671	RAD1_HUMAN	K	169;169;133	ENSP00000371469:E169K;ENSP00000340879:E169K	ENSP00000340879:E169K	E	-	1	0	RAD1	34947477	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.365000	0.79537	2.663000	0.90544	0.591000	0.81541	GAA		PASS	0.418	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1	NM_002853		49	276	49	276	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35876139	35876139	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:35876139G>A	ENST00000303115.3	+	8	1060	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	311					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.V311M(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GATTCATAGGGTGGATGACAT	0.433			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(931-933)GTG>ATG		interleukin 7 receptor precursor							87.0	82.0	84.0					5																	35876139		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876139G>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.931G>A	5.37:g.35876139G>A	ENSP00000306157:p.Val311Met					IL7R_uc011cop.1_RNA	p.V311M	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1020	+	all_lung(31;0.00015)		311			Cytoplasmic (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.931G>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312792	0.81358	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.57595	0.98;0.39	6.06	6.06	0.98353	.	0.279284	0.35615	N	0.003096	T	0.69806	0.3152	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70128	-0.4957	10	0.72032	D	0.01	-1.7526	16.1283	0.81408	0.0:0.0:1.0:0.0	.	311	P16871	IL7RA_HUMAN	M	311;77	ENSP00000306157:V311M;ENSP00000420923:V77M	ENSP00000306157:V311M	V	+	1	0	IL7R	35911896	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.300000	0.65721	2.871000	0.98454	0.655000	0.94253	GTG		PASS	0.433	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			99	75	99	75	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41064647	41064647	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:41064647C>A	ENST00000399564.4	-	5	837	c.387G>T	c.(385-387)atG>atT	p.M129I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	129								p.M129I(1)									GCAGGGTCATCATCATGAAAG	0.463																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(385-387)ATG>ATT		HEAT repeat family member 7B2							86.0	82.0	83.0					5																	41064647		1937	4159	6096	SO:0001583	missense	133558						binding	g.chr5:41064647C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.387G>T	5.37:g.41064647C>A	ENSP00000382476:p.Met129Ile						p.M129I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			5	877	-			129					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.387G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098961	0.56183	.	.	ENSG00000171495	ENST00000399564	T	0.06218	3.33	6.17	4.28	0.50868	Armadillo-type fold (1);	0.093806	0.48767	D	0.000166	T	0.05823	0.0152	L	0.47716	1.5	0.26891	N	0.967321	P	0.47910	0.902	B	0.37601	0.254	T	0.32798	-0.9893	10	0.46703	T	0.11	.	8.5093	0.33206	0.1816:0.6634:0.155:0.0	.	129	Q7Z745	HTRB2_HUMAN	I	129	ENSP00000382476:M129I	ENSP00000382476:M129I	M	-	3	0	HEATR7B2	41100404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.011000	0.29911	2.941000	0.99782	0.655000	0.94253	ATG		PASS	0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	62	7	62	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43506461	43506461	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:43506461G>A	ENST00000306862.2	-	4	696	c.321C>T	c.(319-321)ccC>ccT	p.P107P	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	107								p.P107P(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TATCAAGACTGGGCCATCTCA	0.413																																						uc003jnz.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(319-321)CCC>CCT		hypothetical protein LOC375444							93.0	82.0	86.0					5																	43506461		2203	4300	6503	SO:0001819	synonymous_variant	375444							g.chr5:43506461G>A	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.321C>T	5.37:g.43506461G>A						C5orf34_uc011cpx.1_5'UTR	p.P107P	NM_198566	NP_940968	Q96MH7	CE034_HUMAN			5	638	-	Lung NSC(6;2.07e-05)		107						Silent	SNP	ENST00000306862.2	37	c.321C>T	CCDS3946.1																																																																																				PASS	0.413	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		27	177	27	177	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43656767	43656767	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:43656767C>T	ENST00000264663.5	+	16	2527	c.2306C>T	c.(2305-2307)tCt>tTt	p.S769F	NNT_ENST00000512996.2_Missense_Mutation_p.S638F|NNT_ENST00000344920.4_Missense_Mutation_p.S769F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	769					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.S769F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CTCCTGAAATCTGCCCCTCTC	0.443																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2305-2307)TCT>TTT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						161.0	146.0	151.0					5																	43656767		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43656767C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2306C>T	5.37:g.43656767C>T	ENSP00000264663:p.Ser769Phe					NNT_uc003jof.2_Missense_Mutation_p.S769F	p.S769F	NM_012343	NP_036475	Q13423	NNTM_HUMAN			16	2561	+	Lung NSC(6;2.58e-06)		769					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2306C>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209360	0.79240	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.94232	-3.38;-3.38;-3.38	6.06	6.06	0.98353	.	0.200709	0.53938	D	0.000059	D	0.97835	0.9289	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97983	1.0350	10	0.87932	D	0	-18.451	20.6208	0.99490	0.0:1.0:0.0:0.0	.	769	Q13423	NNTM_HUMAN	F	284;769;769;638	ENSP00000264663:S769F;ENSP00000343873:S769F;ENSP00000426343:S638F	ENSP00000264663:S769F	S	+	2	0	NNT	43692524	0.790000	0.28787	0.659000	0.29680	0.950000	0.60333	2.420000	0.44679	2.882000	0.98803	0.655000	0.94253	TCT		PASS	0.443	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		40	199	40	199	---	---	---	---
CCNB1	891	broad.mit.edu	37	5	68473065	68473065	+	Splice_Site	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:68473065G>C	ENST00000256442.5	+	8	1336		c.e8-1		snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)	p.?(1)		large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGTTGCCTTAGACACCAACTC	0.348																																						uc003jvm.2																			1	Unknown(1)		lung(1)		0						c.e8-1		cyclin B1							64.0	58.0	60.0					5																	68473065		2203	4300	6503	SO:0001630	splice_region_variant	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68473065G>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.1084-1G>C	5.37:g.68473065G>C						CCNB1_uc011crd.1_Splice_Site_p.T362_splice|CCNB1_uc010ixb.2_Intron	p.T362_splice	NM_031966	NP_114172	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	8	1261	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)						A8K066|Q5TZP9	Splice_Site	SNP	ENST00000256442.5	37	c.1084_splice	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310929	0.60414	.	.	ENSG00000134057	ENST00000256442;ENST00000506572	.	.	.	6.17	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5035	0.67737	0.0708:0.0:0.9292:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNB1	68508821	1.000000	0.71417	0.998000	0.56505	0.798000	0.45092	7.318000	0.79029	1.632000	0.50472	0.655000	0.94253	.		PASS	0.348	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966	Intron	17	66	17	66	---	---	---	---
FAM174A	345757	broad.mit.edu	37	5	99871237	99871237	+	Start_Codon_SNP	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:99871237G>A	ENST00000312637.4	+	1	229	c.3G>A	c.(1-3)atG>atA	p.M1I	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	1						integral component of membrane (GO:0016021)		p.M1I(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGGAACGATGAAGGCCTCGC	0.657																																						uc003knj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATA		family with sequence similarity 174, member A							47.0	54.0	52.0					5																	99871237		2182	4262	6444	SO:0001582	initiator_codon_variant	345757					integral to membrane		g.chr5:99871237G>A	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.3G>A	5.37:g.99871237G>A	ENSP00000307954:p.Met1Ile					uc003kni.2_5'Flank	p.M1I	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN			1	123	+			1					A8K0H4	Missense_Mutation	SNP	ENST00000312637.4	37	c.3G>A	CCDS4090.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274323	0.40194	.	.	ENSG00000174132	ENST00000312637	T	0.47528	0.84	4.4	4.4	0.53042	.	.	.	.	.	T	0.64972	0.2647	.	.	.	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	T	0.65500	-0.6153	7	.	.	.	-22.4347	12.674	0.56882	0.0:0.0:1.0:0.0	.	1	Q8TBP5	F174A_HUMAN	I	1	ENSP00000307954:M1I	.	M	+	3	0	FAM174A	99899136	0.990000	0.36364	0.718000	0.30602	0.228000	0.25075	3.524000	0.53495	2.436000	0.82500	0.557000	0.71058	ATG		PASS	0.657	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507	Missense_Mutation	23	101	23	101	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127686619	127686619	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:127686619G>T	ENST00000508053.1	-	27	3727	c.2753C>A	c.(2752-2754)tCt>tAt	p.S918Y	FBN2_ENST00000262464.4_Missense_Mutation_p.S918Y|FBN2_ENST00000508989.1_Missense_Mutation_p.S885Y			P35556	FBN2_HUMAN	fibrillin 2	918	TB 4.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S918Y(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAGCATTCAGATTTCAGAGT	0.547																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2752-2754)TCT>TAT		fibrillin 2 precursor							70.0	72.0	71.0					5																	127686619		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127686619G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2753C>A	5.37:g.127686619G>T	ENSP00000424571:p.Ser918Tyr					FBN2_uc003kuv.2_Missense_Mutation_p.S885Y	p.S918Y	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	21	3192	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	918			TB 4.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2753C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634803	0.67130	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.93811	-3.29;-3.29;-3.29	3.81	3.81	0.43845	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.56097	D	0.000022	D	0.96941	0.9001	M	0.87038	2.855	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97727	1.0200	10	0.87932	D	0	.	17.0098	0.86403	0.0:0.0:1.0:0.0	.	885;918	D6RJI3;P35556	.;FBN2_HUMAN	Y	918;918;885	ENSP00000262464:S918Y;ENSP00000424571:S918Y;ENSP00000425596:S885Y	ENSP00000262464:S918Y	S	-	2	0	FBN2	127714518	1.000000	0.71417	0.929000	0.37066	0.356000	0.29392	9.598000	0.98277	2.407000	0.81776	0.655000	0.94253	TCT		PASS	0.547	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		27	81	27	81	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131726406	131726406	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:131726406T>G	ENST00000245407.3	+	7	1298	c.1077T>G	c.(1075-1077)ttT>ttG	p.F359L	SLC22A5_ENST00000435065.2_Missense_Mutation_p.F383L|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	359					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)	p.F359L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TGGGCTATTTTGGGCTTTCGC	0.458																																						uc003kww.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1075-1077)TTT>TTG		solute carrier family 22 member 5	L-Carnitine(DB00583)						179.0	152.0	161.0					5																	131726406		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131726406T>G	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1077T>G	5.37:g.131726406T>G	ENSP00000245407:p.Phe359Leu					SLC22A5_uc003kwx.3_Missense_Mutation_p.F383L|SLC22A5_uc010jdr.1_Intron	p.F359L	NM_003060	NP_003051	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1341	+		all_cancers(142;0.0751)|Breast(839;0.198)	359			Helical; Name=7; (Potential).		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.1077T>G	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364867	0.82463	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.74842	-0.88;-0.88	5.82	-10.0	0.00425	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.137643	0.64402	D	0.000002	T	0.75781	0.3896	M	0.83483	2.645	0.36598	D	0.874471	P;P	0.45078	0.85;0.85	P;P	0.45343	0.477;0.477	T	0.82657	-0.0349	10	0.72032	D	0.01	.	21.0123	0.99943	0.0:0.1302:0.0:0.8698	.	383;359	A2Q0V1;O76082	.;S22A5_HUMAN	L	359;383	ENSP00000245407:F359L;ENSP00000402760:F383L	ENSP00000245407:F359L	F	+	3	2	SLC22A5	131754305	0.067000	0.21026	0.230000	0.23976	0.976000	0.68499	-0.675000	0.05227	-2.017000	0.00944	-1.277000	0.01392	TTT		PASS	0.458	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		43	165	43	165	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140228222	140228222	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:140228222A>G	ENST00000532602.1	+	1	1175	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.I48V|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I48V(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGCCGCATCGCGCAGGA	0.647																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(142-144)ATC>GTC		protocadherin alpha 9 isoform 1 precursor							53.0	58.0	56.0					5																	140228222		2196	4265	6461	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140228222A>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.142A>G	5.37:g.140228222A>G	ENSP00000436042:p.Ile48Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I48V	p.I48V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	866	+			48			Cadherin 1.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.142A>G	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112442	0.37242	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.29917	1.55;1.55	3.69	2.47	0.30058	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44953	0.1318	L	0.48260	1.515	0.24460	N	0.994449	B;D	0.55800	0.033;0.973	B;D	0.66716	0.048;0.946	T	0.22800	-1.0206	9	0.59425	D	0.04	.	10.4728	0.44646	0.6697:0.3303:0.0:0.0	.	48;48	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	V	48	ENSP00000436042:I48V;ENSP00000367362:I48V	ENSP00000367362:I48V	I	+	1	0	PCDHA9	140208406	0.000000	0.05858	0.998000	0.56505	0.892000	0.51952	-0.586000	0.05787	0.550000	0.28991	0.477000	0.44152	ATC		PASS	0.647	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		48	131	48	131	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140594731	140594731	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:140594731C>A	ENST00000341948.4	+	1	1223	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P346T(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACCATGCCCCAGAAGTTAC	0.438																																						uc003lja.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1036-1038)CCA>ACA		protocadherin beta 13 precursor							199.0	188.0	192.0					5																	140594731		2203	4298	6501	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594731C>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1036C>A	5.37:g.140594731C>A	ENSP00000345491:p.Pro346Thr						p.P346T	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1223	+			346			Cadherin 3.|Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1036C>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.421527	0.83559	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	D	0.81499	-1.5	3.51	3.51	0.40186	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.93926	0.8056	H	0.99197	4.465	0.47949	D	0.999556	D	0.89917	1.0	D	0.97110	1.0	D	0.96502	0.9372	9	0.87932	D	0	.	15.0392	0.71774	0.0:1.0:0.0:0.0	.	346	Q9Y5F0	PCDBD_HUMAN	T	346	ENSP00000345491:P346T	ENSP00000345491:P346T	P	+	1	0	PCDHB13	140574915	1.000000	0.71417	0.293000	0.24932	0.437000	0.31866	7.751000	0.85126	1.675000	0.50919	0.306000	0.20318	CCA		PASS	0.438	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		71	358	71	358	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140710502	140710502	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:140710502T>G	ENST00000517417.1	+	1	251	c.251T>G	c.(250-252)tTg>tGg	p.L84W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L84W|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L84W(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGCAGCTTGATCACCGCG	0.547																																						uc003lji.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(250-252)TTG>TGG		protocadherin gamma subfamily A, 1 isoform 1							109.0	121.0	117.0					5																	140710502		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710502T>G	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.251T>G	5.37:g.140710502T>G	ENSP00000431083:p.Leu84Trp					PCDHGA1_uc011dan.1_Missense_Mutation_p.L84W	p.L84W	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	251	+			84			Cadherin 1.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.251T>G	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315652	0.60524	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.26957	1.7;1.7	4.37	4.37	0.52481	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.39407	N	0.001364	T	0.70762	0.3261	H	0.99847	4.84	0.26128	N	0.980451	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75056	-0.3452	10	0.87932	D	0	.	13.7197	0.62719	0.0:0.0:0.0:1.0	.	84;84	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	W	84	ENSP00000431083:L84W;ENSP00000367345:L84W	ENSP00000367345:L84W	L	+	2	0	PCDHGA1	140690686	0.912000	0.30974	1.000000	0.80357	0.740000	0.42216	5.975000	0.70475	1.971000	0.57363	0.533000	0.62120	TTG		PASS	0.547	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		39	110	39	110	---	---	---	---
PCDHGB6	56100	broad.mit.edu	37	5	140789170	140789170	+	Silent	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:140789170A>T	ENST00000520790.1	+	1	1401	c.1401A>T	c.(1399-1401)ccA>ccT	p.P467P	PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	467	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P467P(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCGCCAGGAGCCTCCA	0.587																																						uc003lkj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1399-1401)CCA>CCT		protocadherin gamma subfamily B, 6 isoform 1							36.0	43.0	41.0					5																	140789170		2088	4212	6300	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789170A>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1401A>T	5.37:g.140789170A>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.P467P	p.P467P	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1401	+			467			Extracellular (Potential).|Cadherin 5.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1401A>T	CCDS54929.1																																																																																				PASS	0.587	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		10	40	10	40	---	---	---	---
ARSI	340075	broad.mit.edu	37	5	149681648	149681648	+	Missense_Mutation	SNP	G	G	A	rs199972086		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:149681648G>A	ENST00000328668.7	-	1	868	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	97					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R97W(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTGGCTCCGCGAAGGCGTG	0.577																																						uc003lrv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(289-291)CGG>TGG		arylsulfatase family, member I precursor																																				SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149681648G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.289C>T	5.37:g.149681648G>A	ENSP00000333395:p.Arg97Trp						p.R97W	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	878	-			97					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.289C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917047	0.73098	.	.	ENSG00000183876	ENST00000328668	D	0.98178	-4.77	4.84	0.612	0.17591	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99429	0.9798	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98708	1.0703	10	0.87932	D	0	.	14.9068	0.70727	0.0:0.0:0.3695:0.6305	.	97	Q5FYB1	ARSI_HUMAN	W	97	ENSP00000333395:R97W	ENSP00000333395:R97W	R	-	1	2	ARSI	149661841	0.909000	0.30893	0.147000	0.22382	0.995000	0.86356	1.297000	0.33400	-0.083000	0.12618	0.561000	0.74099	CGG		PASS	0.577	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		3	11	3	11	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161281237	161281237	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:161281237C>T	ENST00000428797.2	+	4	503	c.148C>T	c.(148-150)Cta>Tta	p.L50L	GABRA1_ENST00000393943.4_Silent_p.L50L|GABRA1_ENST00000420560.1_Silent_p.L50L|GABRA1_ENST00000437025.2_Silent_p.L50L|GABRA1_ENST00000023897.6_Silent_p.L50L|GABRA1_ENST00000444819.1_Silent_p.L50L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	50					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L50L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGACAGACTCCTAGATGGTTA	0.378																																						uc010jiw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(148-150)CTA>TTA		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						102.0	106.0	105.0					5																	161281237		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161281237C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.148C>T	5.37:g.161281237C>T						GABRA1_uc010jix.2_Silent_p.L50L|GABRA1_uc010jiy.2_Silent_p.L50L|GABRA1_uc003lyx.3_Silent_p.L50L|GABRA1_uc010jiz.2_Silent_p.L50L|GABRA1_uc010jja.2_Silent_p.L50L|GABRA1_uc010jjb.2_Silent_p.L50L	p.L50L	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	4	616	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	50			Extracellular (Probable).		D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.148C>T	CCDS4357.1																																																																																				PASS	0.378	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		19	73	19	73	---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173317235	173317235	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:173317235G>T	ENST00000265085.5	+	1	1953	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C	CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000519835.1_Missense_Mutation_p.G167C|CPEB4_ENST00000334035.5_Missense_Mutation_p.G167C|CPEB4_ENST00000520867.1_Missense_Mutation_p.G167C|CPEB4_ENST00000522336.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	167					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G167C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTCTCTTACTGGTTTCAGTAA	0.493																																						uc003mcs.3																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GGT>TGT		cytoplasmic polyadenylation element binding							89.0	94.0	92.0					5																	173317235		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173317235G>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.499G>T	5.37:g.173317235G>T	ENSP00000265085:p.Gly167Cys					CPEB4_uc010jju.1_Missense_Mutation_p.G167C|CPEB4_uc010jjv.2_Missense_Mutation_p.G167C|CPEB4_uc011dfg.1_Missense_Mutation_p.G167C|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	p.G167C	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1905	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	167					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.499G>T	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593447	0.66219	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.82	5.82	0.92795	.	0.043102	0.85682	D	0.000000	T	0.56016	0.1957	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.71674	0.992;0.998;0.992;0.996	P;D;P;P	0.66716	0.847;0.946;0.847;0.885	T	0.57266	-0.7841	10	0.49607	T	0.09	-13.3741	20.099	0.97865	0.0:0.0:1.0:0.0	.	167;167;167;167	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	C	167	ENSP00000265085:G167C;ENSP00000429092:G167C;ENSP00000334533:G167C;ENSP00000429048:G167C	ENSP00000265085:G167C	G	+	1	0	CPEB4	173249841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.752000	0.94435	0.655000	0.94253	GGT		PASS	0.493	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		37	133	37	133	---	---	---	---
PDLIM7	9260	broad.mit.edu	37	5	176915221	176915221	+	Missense_Mutation	SNP	C	C	A	rs374028801		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr5:176915221C>A	ENST00000355841.2	-	10	964	c.898G>T	c.(898-900)Gcg>Tcg	p.A300S	PDLIM7_ENST00000359895.2_Missense_Mutation_p.A266S|PDLIM7_ENST00000393551.1_Missense_Mutation_p.R279L|PDLIM7_ENST00000356618.4_Missense_Mutation_p.R279L	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	300	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.A300S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			GGGTGGTACGCGTGGCCCAGC	0.642																																						uc003mhc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(898-900)GCG>TCG		PDZ and LIM domain 7 isoform 1							84.0	68.0	74.0					5																	176915221		2203	4300	6503	SO:0001583	missense	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176915221C>A	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.898G>T	5.37:g.176915221C>A	ENSP00000348099:p.Ala300Ser					PDLIM7_uc003mha.1_Missense_Mutation_p.A194S|PDLIM7_uc003mhb.1_Missense_Mutation_p.A266S|PDLIM7_uc003mhd.1_Missense_Mutation_p.A152S|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_Missense_Mutation_p.R279L	p.A300S	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	983	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	300			LIM zinc-binding 1.		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	ENST00000355841.2	37	c.898G>T	CCDS4422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.018|0.018	-1.472290|-1.472290	0.01044|0.01044	.|.	.|.	ENSG00000196923|ENSG00000196923	ENST00000359895;ENST00000355841|ENST00000356618;ENST00000393551	D;D|T;T	0.87256|0.23147	-2.23;-2.23|1.92;1.92	5.26|5.26	2.01|2.01	0.26516|0.26516	Zinc finger, LIM-type (4);|.	0.227351|.	0.25848|.	N|.	0.027907|.	T|T	0.10723|0.10723	0.0262|0.0262	N|N	0.01640|0.01640	-0.785|-0.785	0.09310|0.09310	N|N	0.99999|0.99999	B;B|B	0.09022|0.02656	0.002;0.0|0.0	B;B|B	0.15484|0.01281	0.013;0.004|0.0	T|T	0.28004|0.28004	-1.0057|-1.0057	10|9	0.02654|0.42905	T|T	1|0.14	.|.	12.7695|12.7695	0.57412|0.57412	0.7075:0.2925:0.0:0.0|0.7075:0.2925:0.0:0.0	.|.	300;266|279	Q9NR12;Q9NR12-2|Q9NR12-4	PDLI7_HUMAN;.|.	S|L	266;300|279	ENSP00000352964:A266S;ENSP00000348099:A300S|ENSP00000349030:R279L;ENSP00000377182:R279L	ENSP00000348099:A300S|ENSP00000349030:R279L	A|R	-|-	1|2	0|0	PDLIM7|PDLIM7	176847827|176847827	1.000000|1.000000	0.71417|0.71417	0.033000|0.033000	0.17914|0.17914	0.006000|0.006000	0.05464|0.05464	6.764000|6.764000	0.74960|0.74960	0.541000|0.541000	0.28827|0.28827	-0.188000|-0.188000	0.12872|0.12872	GCG|CGC		PASS	0.642	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		3	98	3	98	---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28228142	28228142	+	Silent	SNP	C	C	A	rs140336392		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:28228142C>A	ENST00000343684.3	+	1	1045	c.993C>A	c.(991-993)atC>atA	p.I331I	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	331								p.I331I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGAAGAGATCGGTTCTTTTG	0.483																																						uc003nkt.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(991-993)ATC>ATA		NFKB activating protein-like							189.0	185.0	186.0					6																	28228142		2203	4300	6503	SO:0001819	synonymous_variant	222698							g.chr6:28228142C>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.993C>A	6.37:g.28228142C>A						ZKSCAN4_uc011dlb.1_5'Flank	p.I331I	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	1045	+			331					Q3MIV1|Q9H4Q7	Silent	SNP	ENST00000343684.3	37	c.993C>A	CCDS34353.1																																																																																				PASS	0.483	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			80	136	80	136	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32036344	32036344	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:32036344C>G	ENST00000375244.3	-	17	6244	c.6043G>C	c.(6043-6045)Gac>Cac	p.D2015H	TNXB_ENST00000375247.2_Missense_Mutation_p.D2015H			P22105	TENX_HUMAN	tenascin XB	2097	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.D2102H(1)|p.D2015H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGAAGTGGTCAAACTGTCCC	0.647																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(6043-6045)GAC>CAC		tenascin XB isoform 1 precursor							43.0	47.0	46.0					6																	32036344		2011	4169	6180	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036344C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6043G>C	6.37:g.32036344C>G	ENSP00000364393:p.Asp2015His						p.D2015H	NM_019105	NP_061978	P22105	TENX_HUMAN			17	6245	-			2097			Fibronectin type-III 13.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.6043G>C		.	.	.	.	.	.	.	.	.	.	C	17.84	3.487742	0.64074	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59502	0.26;0.26	5.33	5.33	0.75918	.	0.115461	0.38959	N	0.001501	T	0.75421	0.3847	M	0.89968	3.075	0.29110	N	0.880903	D	0.89917	1.0	D	0.91635	0.999	T	0.74362	-0.3690	10	0.72032	D	0.01	.	15.9329	0.79679	0.0:1.0:0.0:0.0	.	2015	P22105-3	.	H	2015	ENSP00000364393:D2015H;ENSP00000364396:D2015H	ENSP00000364393:D2015H	D	-	1	0	TNXB	32144322	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	4.623000	0.61247	2.498000	0.84270	0.655000	0.94253	GAC		PASS	0.647	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		8	96	8	96	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32036704	32036704	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:32036704C>A	ENST00000375244.3	-	16	5998	c.5797G>T	c.(5797-5799)Gac>Tac	p.D1933Y	TNXB_ENST00000375247.2_Missense_Mutation_p.D1933Y			P22105	TENX_HUMAN	tenascin XB	2015	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.D2020Y(1)|p.D1933Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGTGATGTCATTCCGGTCA	0.532																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(5797-5799)GAC>TAC		tenascin XB isoform 1 precursor							115.0	132.0	126.0					6																	32036704		1357	2606	3963	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036704C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5797G>T	6.37:g.32036704C>A	ENSP00000364393:p.Asp1933Tyr						p.D1933Y	NM_019105	NP_061978	P22105	TENX_HUMAN			16	5999	-			2015			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5797G>T		.	.	.	.	.	.	.	.	.	.	C	14.76	2.632443	0.46944	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56776	0.44;0.44	5.16	2.39	0.29439	.	0.382752	0.22422	N	0.060271	T	0.47691	0.1459	L	0.57536	1.79	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.34403	-0.9830	10	0.66056	D	0.02	.	3.5716	0.07920	0.1767:0.5466:0.0:0.2766	.	1933	P22105-3	.	Y	1933	ENSP00000364393:D1933Y;ENSP00000364396:D1933Y	ENSP00000364393:D1933Y	D	-	1	0	TNXB	32144682	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	0.662000	0.25038	0.703000	0.31848	0.655000	0.94253	GAC		PASS	0.532	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		32	261	32	261	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36182091	36182091	+	Missense_Mutation	SNP	C	C	T	rs148223802	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:36182091C>T	ENST00000357641.6	+	8	3170	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R973W|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	973					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.R973W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGCCACTCCCGGAAGCGGCC	0.617													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		17378	0.0		0.0	False		,,,				2504	0.0					uc003olv.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2917-2919)CGG>TGG		bromodomain and PHD finger containing, 3		C	TRP/ARG	16,4388		0,16,2186	38.0	45.0	42.0		2917	5.8	1.0	6	dbSNP_134	42	0,8600		0,0,4300	yes	missense	BRPF3	NM_015695.2	101	0,16,6486	TT,TC,CC		0.0,0.3633,0.123	probably-damaging	973/1206	36182091	16,12988	2202	4300	6502	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36182091C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2917C>T	6.37:g.36182091C>T	ENSP00000350267:p.Arg973Trp					BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron	p.R973W	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			8	3141	+			973					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.2917C>T	CCDS34437.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	23.2	4.385814	0.82792	0.003633	0.0	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	T;T	0.22336	2.16;1.96	5.8	5.8	0.92144	.	0.300838	0.31784	N	0.007072	T	0.39937	0.1097	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.15607	-1.0431	10	0.66056	D	0.02	.	18.2355	0.89948	0.0:1.0:0.0:0.0	.	973	Q9ULD4	BRPF3_HUMAN	W	973;973;387	ENSP00000350267:R973W;ENSP00000436504:R973W	ENSP00000350267:R973W	R	+	1	2	BRPF3	36290069	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.620000	0.36976	2.743000	0.94032	0.455000	0.32223	CGG		PASS	0.617	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		16	76	16	76	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43415558	43415558	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:43415558G>A	ENST00000372530.4	+	18	4057	c.3842G>A	c.(3841-3843)cGc>cAc	p.R1281H	ABCC10_ENST00000244533.3_Missense_Mutation_p.R1253H	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1281	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R1253H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ATCGTGGGCCGCACAGGCTCC	0.642																																						uc003ouy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(3841-3843)CGC>CAC		ATP-binding cassette, sub-family C, member 10							115.0	105.0	109.0					6																	43415558		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415558G>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3842G>A	6.37:g.43415558G>A	ENSP00000361608:p.Arg1281His					ABCC10_uc003ouz.1_Missense_Mutation_p.R1253H|ABCC10_uc010jyo.1_Missense_Mutation_p.R387H	p.R1281H	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		18	4057	+	all_lung(25;0.00536)		1281			ABC transporter 2.|ATP 2 (Potential).		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3842G>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707229	0.96821	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.94092	-3.35;-3.35	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.057255	0.64402	D	0.000001	D	0.96125	0.8737	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96198	0.9143	10	0.87932	D	0	-18.1187	19.6398	0.95753	0.0:0.0:1.0:0.0	.	1253;1281	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	H	1281;1253;32	ENSP00000361608:R1281H;ENSP00000244533:R1253H	ENSP00000244533:R1253H	R	+	2	0	ABCC10	43523536	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.862000	0.99564	2.641000	0.89580	0.591000	0.81541	CGC		PASS	0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		5	265	5	265	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50682991	50682991	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:50682991C>A	ENST00000008391.3	+	2	430	c.202C>A	c.(202-204)Ccg>Acg	p.P68T		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.P68T(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCAGTACACCCCGCTCCACCA	0.572																																						uc003paf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(1)	7						c.(202-204)CCG>ACG		transcription factor AP-2 beta-like 1							257.0	206.0	223.0					6																	50682991		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50682991C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.202C>A	6.37:g.50682991C>A	ENSP00000008391:p.Pro68Thr					TFAP2D_uc011dwt.1_RNA	p.P68T	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			2	714	+	Lung NSC(77;0.0334)		68						Missense_Mutation	SNP	ENST00000008391.3	37	c.202C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	9.707	1.156157	0.21454	.	.	ENSG00000008197	ENST00000008391	D	0.98602	-5.02	5.07	5.07	0.68467	.	0.117765	0.64402	D	0.000018	D	0.92374	0.7580	N	0.08118	0	0.80722	D	1	P	0.41524	0.753	B	0.39068	0.289	D	0.93101	0.6508	10	0.30078	T	0.28	-1.7122	18.8076	0.92045	0.0:1.0:0.0:0.0	.	68	Q7Z6R9	AP2D_HUMAN	T	68	ENSP00000008391:P68T	ENSP00000008391:P68T	P	+	1	0	TFAP2D	50790950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.498000	0.84270	0.655000	0.94253	CCG		PASS	0.572	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		26	112	26	112	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53519386	53519386	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:53519386A>C	ENST00000407079.1	-	1	684	c.685T>G	c.(685-687)Tct>Gct	p.S229A	KLHL31_ENST00000370905.3_Missense_Mutation_p.S229A			Q9H511	KLH31_HUMAN	kelch-like family member 31	229	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.S229A(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ACTATCTCAGAAGGCAACTGT	0.348																																						uc003pcb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(685-687)TCT>GCT		kelch repeat and BTB (POZ) domain containing 1							84.0	84.0	84.0					6																	53519386		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519386A>C		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.685T>G	6.37:g.53519386A>C	ENSP00000384644:p.Ser229Ala						p.S229A	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			2	826	-	Lung NSC(77;0.0158)		229			BACK.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.685T>G	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716721	0.68844	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.70164	-0.46;-0.46	6.04	6.04	0.98038	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	L	0.47716	1.5	0.58432	D	0.999999	D	0.60160	0.987	P	0.61592	0.891	T	0.73509	-0.3960	10	0.66056	D	0.02	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	229	Q9H511	KLH31_HUMAN	A	229	ENSP00000359942:S229A;ENSP00000384644:S229A	ENSP00000359942:S229A	S	-	1	0	KLHL31	53627345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	TCT		PASS	0.348	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		42	179	42	179	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	55922602	55922602	+	Silent	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:55922602T>A	ENST00000244728.5	-	30	3124	c.2727A>T	c.(2725-2727)ccA>ccT	p.P909P	COL21A1_ENST00000535941.1_Silent_p.P909P|COL21A1_ENST00000370819.1_Silent_p.P906P|COL21A1_ENST00000370808.2_Silent_p.P275P|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	909	Collagen-like 7.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P909P(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGGTCTCCTGGAGGACCTT	0.498																																						uc003pcs.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2725-2727)CCA>CCT		collagen, type XXI, alpha 1 precursor							40.0	39.0	39.0					6																	55922602		1853	4094	5947	SO:0001819	synonymous_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55922602T>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2727A>T	6.37:g.55922602T>A						COL21A1_uc010jzz.2_Silent_p.P294P|COL21A1_uc011dxg.1_Silent_p.P282P|COL21A1_uc011dxh.1_Silent_p.P260P|COL21A1_uc003pcr.2_Silent_p.P266P	p.P909P	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		30	2959	-	Lung NSC(77;0.0483)		909					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.2727A>T	CCDS55025.1																																																																																				PASS	0.498	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			13	17	13	17	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72974742	72974742	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:72974742T>C	ENST00000521978.1	+	20	3181	c.3181T>C	c.(3181-3183)Tgg>Cgg	p.W1061R	RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.W1061R|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000520567.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1061					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.W1061R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGTTCTCACTGGAATATTTA	0.383																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(3181-3183)TGG>CGG		regulating synaptic membrane exocytosis 1							47.0	43.0	44.0					6																	72974742		1824	4080	5904	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72974742T>C	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3181T>C	6.37:g.72974742T>C	ENSP00000428417:p.Trp1061Arg					RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.W278R|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron	p.W1061R	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			20	3258	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1061					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3181T>C	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702986	0.30232	.	.	ENSG00000079841	ENST00000350827;ENST00000264839;ENST00000521978	T;T	0.12361	2.75;2.69	5.76	5.76	0.90799	.	0.000000	0.43110	D	0.000613	T	0.03220	0.0094	N	0.08118	0	0.80722	D	1	P	0.40731	0.728	B	0.37601	0.254	T	0.50841	-0.8780	10	0.19147	T	0.46	-10.6878	16.0796	0.80995	0.0:0.0:0.0:1.0	.	1061	Q86UR5	RIMS1_HUMAN	R	1061	ENSP00000264839:W1061R;ENSP00000428417:W1061R	ENSP00000264839:W1061R	W	+	1	0	RIMS1	73031463	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.567000	0.60850	2.199000	0.70637	0.477000	0.44152	TGG		PASS	0.383	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			10	18	10	18	---	---	---	---
HTR1B	3351	broad.mit.edu	37	6	78172433	78172433	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:78172433G>A	ENST00000369947.2	-	1	1057	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	230					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R230C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACGTAGATGCGGCCATAGAGG	0.607																																						uc003pil.1																			1	Substitution - Missense(1)		lung(1)		0						c.(688-690)CGC>TGC		5-hydroxytryptamine (serotonin) receptor 1B	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						57.0	59.0	58.0					6																	78172433		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172433G>A	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.688C>T	6.37:g.78172433G>A	ENSP00000358963:p.Arg230Cys						p.R230C	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	688	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	230			Cytoplasmic (By similarity).		Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.688C>T	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488850	0.64074	.	.	ENSG00000135312	ENST00000369947	T	0.39592	1.07	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.70920	-0.4741	9	.	.	.	.	11.2211	0.48855	0.0:0.0:0.7167:0.2833	.	230	P28222	5HT1B_HUMAN	C	230	ENSP00000358963:R230C	.	R	-	1	0	HTR1B	78229152	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.183000	0.50918	2.657000	0.90304	0.555000	0.69702	CGC		PASS	0.607	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		22	96	22	96	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90605323	90605323	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:90605323C>T	ENST00000369352.1	+	1	1136	c.1136C>T	c.(1135-1137)cCa>cTa	p.P379L	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	419					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.P379L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AGAAACTGTCCATCCTTTGCA	0.522																																						uc011eaa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1135-1137)CCA>CTA		gap junction protein, alpha 10							99.0	95.0	96.0					6																	90605323		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605323C>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1136C>T	6.37:g.90605323C>T	ENSP00000358358:p.Pro379Leu						p.P379L	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1136	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	379			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.1136C>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389584	0.42410	.	.	ENSG00000135355	ENST00000369352	D	0.97575	-4.44	5.6	2.83	0.33086	.	1.000120	0.08080	N	1.000000	D	0.86481	0.5943	N	0.25647	0.755	0.18873	N	0.999987	B	0.17465	0.022	B	0.14578	0.011	T	0.78710	-0.2098	10	0.48119	T	0.1	.	1.774	0.03018	0.3133:0.3923:0.1517:0.1426	.	379	Q969M2	CXA10_HUMAN	L	379	ENSP00000358358:P379L	ENSP00000358358:P379L	P	+	2	0	GJA10	90662044	0.000000	0.05858	0.476000	0.27291	0.507000	0.33981	-0.577000	0.05847	0.714000	0.32081	0.563000	0.77884	CCA		PASS	0.522	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		70	93	70	93	---	---	---	---
FRK	2444	broad.mit.edu	37	6	116289811	116289811	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:116289811C>T	ENST00000606080.1	-	3	1004	c.558G>A	c.(556-558)ctG>ctA	p.L186L	FRK_ENST00000538210.1_Silent_p.L44L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	186	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L186L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	CAAATTCGTTCAGTGTTGAAA	0.418																																						uc003pwi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)	6						c.(556-558)CTG>CTA		fyn-related kinase							164.0	154.0	157.0					6																	116289811		2203	4300	6503	SO:0001819	synonymous_variant	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116289811C>T	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.558G>A	6.37:g.116289811C>T							p.L186L	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	3	1005	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	186			SH2.		B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	c.558G>A	CCDS5103.1																																																																																				PASS	0.418	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		125	165	125	165	---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119301350	119301350	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:119301350C>T	ENST00000338891.7	-	10	2697	c.2254G>A	c.(2254-2256)Gtc>Atc	p.V752I	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.V632I|FAM184A_ENST00000521531.1_Missense_Mutation_p.V752I|FAM184A_ENST00000352896.5_Missense_Mutation_p.V632I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	752						extracellular space (GO:0005615)		p.V752I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AATGCAAGGACATGTGCTTCT	0.393																																						uc003pyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(2254-2256)GTC>ATC		hypothetical protein LOC79632 isoform 1							154.0	144.0	147.0					6																	119301350		1893	4114	6007	SO:0001583	missense	79632							g.chr6:119301350C>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2254G>A	6.37:g.119301350C>T	ENSP00000342604:p.Val752Ile					FAM184A_uc003pyk.3_Missense_Mutation_p.V632I|FAM184A_uc003pyl.3_Missense_Mutation_p.V632I	p.V752I	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			10	2602	-			752			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2254G>A	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758029	0.31137	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	6.17	5.31	0.75309	.	0.251560	0.40728	N	0.001035	T	0.06416	0.0165	N	0.08118	0	0.80722	D	1	B;B;B	0.14805	0.001;0.0;0.011	B;B;B	0.15484	0.005;0.001;0.013	T	0.12630	-1.0540	10	0.37606	T	0.19	-3.1114	7.301	0.26420	0.0:0.7282:0.0:0.2718	.	752;632;752	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	I	752;632;632;752	ENSP00000342604:V752I;ENSP00000326608:V632I;ENSP00000357460:V632I;ENSP00000430442:V752I	ENSP00000342604:V752I	V	-	1	0	FAM184A	119343049	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.239000	0.43079	1.627000	0.50400	0.655000	0.94253	GTC		PASS	0.393	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		50	101	50	101	---	---	---	---
TAAR8	83551	broad.mit.edu	37	6	132874072	132874072	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:132874072G>T	ENST00000275200.1	+	1	241	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	81					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.G81C(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTTCTTGGTAGGTGTGACTGT	0.448																																						uc011ecj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)GGT>TGT		trace amine associated receptor 8							169.0	159.0	162.0					6																	132874072		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874072G>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.241G>T	6.37:g.132874072G>T	ENSP00000275200:p.Gly81Cys						p.G81C	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	241	+	Breast(56;0.112)		81			Helical; Name=2; (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.241G>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156625	0.78114	.	.	ENSG00000146385	ENST00000275200	T	0.37752	1.18	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.094982	0.40064	N	0.001185	T	0.70448	0.3225	H	0.97240	3.965	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.82649	-0.0353	10	0.87932	D	0	-5.4936	17.6362	0.88123	0.0:0.0:1.0:0.0	.	81	Q969N4	TAAR8_HUMAN	C	81	ENSP00000275200:G81C	ENSP00000275200:G81C	G	+	1	0	TAAR8	132915765	1.000000	0.71417	0.989000	0.46669	0.804000	0.45430	9.420000	0.97426	2.463000	0.83235	0.655000	0.94253	GGT		PASS	0.448	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		114	142	114	142	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597033	136597033	+	Missense_Mutation	SNP	G	G	A	rs372053178		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:136597033G>A	ENST00000531224.1	-	5	1882	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R542C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R542C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R371C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R542C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R544C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	544					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R544C(1)|p.R544S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTTCAGGACGGTGAGAATCA	0.428																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1630-1632)CGT>TGT		BCL2-associated transcription factor 1 isoform		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	204.0	201.0	202.0		1624,1111,1630	5.5	1.0	6		202	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	542/870,371/748,544/921	136597033	1,13005	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597033G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1630C>T	6.37:g.136597033G>A	ENSP00000435210:p.Arg544Cys					BCLAF1_uc003qgw.1_Missense_Mutation_p.R371C|BCLAF1_uc003qgy.1_Missense_Mutation_p.R542C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R542C	p.R544C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1883	-	Colorectal(23;0.24)		544					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1630C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947251	0.73672	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000004	T	0.13884	0.0336	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.69307	0.963;0.922;0.963;0.952	T	0.39057	-0.9632	10	0.87932	D	0	-6.6411	19.7634	0.96333	0.0:0.0:1.0:0.0	.	542;542;544;371	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	C	544;542;544;371;542;542;544	ENSP00000435210:R544C;ENSP00000229446:R542C;ENSP00000435441:R544C;ENSP00000436501:R371C;ENSP00000434826:R542C;ENSP00000376159:R542C;ENSP00000431734:R544C	ENSP00000229446:R542C	R	-	1	0	BCLAF1	136638726	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.862000	0.87013	2.747000	0.94245	0.460000	0.39030	CGT		PASS	0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		50	526	50	526	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146480698	146480698	+	Silent	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:146480698C>A	ENST00000282753.1	+	2	1150	c.915C>A	c.(913-915)cgC>cgA	p.R305R	GRM1_ENST00000392299.2_Silent_p.R305R|GRM1_ENST00000355289.4_Silent_p.R305R|GRM1_ENST00000492807.2_Silent_p.R305R|GRM1_ENST00000361719.2_Silent_p.R305R|GRM1_ENST00000507907.1_Silent_p.R305R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	305					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R305R(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCATGCGGCGCCTTGGCGTCG	0.557																																						uc010khw.1																			2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(913-915)CGC>CGA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						62.0	61.0	61.0					6																	146480698		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480698C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.915C>A	6.37:g.146480698C>A						GRM1_uc010khu.1_Silent_p.R305R|GRM1_uc010khv.1_Silent_p.R305R|GRM1_uc003qll.2_Silent_p.R305R|GRM1_uc011edz.1_Silent_p.R305R|GRM1_uc011eea.1_Silent_p.R305R	p.R305R	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1385	+		Ovarian(120;0.0387)	305			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.915C>A	CCDS5209.1																																																																																				PASS	0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		12	56	12	56	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152472788	152472788	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:152472788C>T	ENST00000367255.5	-	135	24951	c.24350G>A	c.(24349-24351)cGg>cAg	p.R8117Q	SYNE1_ENST00000539504.1_Missense_Mutation_p.R272Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7729Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8117Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8046Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2641Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R272Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8046Q|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8117					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.R8117Q(2)|p.R8046Q(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)		AATGCTGTCCCGCGCAGTCTC	0.403										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.(24349-24351)CGG>CAG		spectrin repeat containing, nuclear envelope 1							41.0	41.0	41.0					6																	152472788		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.chr6:152472788C>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.24350G>A	6.37:g.152472788C>T	ENSP00000356224:p.Arg8117Gln	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R2641Q|SYNE1_uc003qos.3_Missense_Mutation_p.R2641Q|SYNE1_uc003qot.3_Missense_Mutation_p.R8046Q|SYNE1_uc003qou.3_Missense_Mutation_p.R8117Q|SYNE1_uc003qop.3_Missense_Mutation_p.R279Q|SYNE1_uc011eez.1_Missense_Mutation_p.R319Q|SYNE1_uc003qoq.3_Missense_Mutation_p.R319Q|SYNE1_uc003qor.3_Missense_Mutation_p.R1017Q	p.R8117Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	135	24952	-		Ovarian(120;0.0955)	8117			Spectrin 30.|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.24350G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	36	5.971423	0.97162	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.97	5.97	0.96955	.	0.000000	0.53938	D	0.000046	T	0.62060	0.2397	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.995;0.997;0.988	T	0.53823	-0.8384	10	0.35671	T	0.21	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	8117;8117;8046;8046;319	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Q	8117;272;763;8046;8117;8046;7729;2641;279;274;1039;272	ENSP00000356224:R8117Q;ENSP00000441052:R272Q;ENSP00000356226:R763Q;ENSP00000396024:R8046Q;ENSP00000265368:R8117Q;ENSP00000390975:R8046Q;ENSP00000341887:R7729Q;ENSP00000349276:R2641Q;ENSP00000356220:R1039Q;ENSP00000346701:R272Q	ENSP00000265368:R8117Q	R	-	2	0	SYNE1	152514481	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.625000	0.83145	2.836000	0.97738	0.655000	0.94253	CGG		PASS	0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		15	42	15	42	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152485394	152485394	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:152485394C>A	ENST00000367255.5	-	131	24295	c.23694G>T	c.(23692-23694)agG>agT	p.R7898S	SYNE1_ENST00000539504.1_Missense_Mutation_p.R53S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7510S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7898S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7827S|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2422S|SYNE1_ENST00000354674.4_Missense_Mutation_p.R53S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7827S|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7898					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.R7898S(2)|p.R7827S(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)		CGAGCCAGGTCCTCAGGCTGC	0.522										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.(23692-23694)AGG>AGT		spectrin repeat containing, nuclear envelope 1							100.0	90.0	93.0					6																	152485394		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.chr6:152485394C>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.23694G>T	6.37:g.152485394C>A	ENSP00000356224:p.Arg7898Ser	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R2422S|SYNE1_uc003qos.3_Missense_Mutation_p.R2422S|SYNE1_uc003qot.3_Missense_Mutation_p.R7827S|SYNE1_uc003qou.3_Missense_Mutation_p.R7898S|SYNE1_uc003qop.3_Missense_Mutation_p.R60S|SYNE1_uc011eez.1_Missense_Mutation_p.R100S|SYNE1_uc003qoq.3_Missense_Mutation_p.R100S|SYNE1_uc003qor.3_Missense_Mutation_p.R798S	p.R7898S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	131	24296	-		Ovarian(120;0.0955)	7898			Spectrin 28.|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.23694G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735979	0.69189	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.44	1.08	0.20341	.	0.000000	0.64402	D	0.000010	T	0.53753	0.1816	M	0.85197	2.74	0.47698	D	0.999494	D;D;D;D;B	0.67145	0.996;0.996;0.995;0.996;0.422	D;D;P;D;P	0.65987	0.94;0.94;0.901;0.94;0.524	T	0.57300	-0.7835	10	0.66056	D	0.02	.	6.8823	0.24181	0.0:0.3369:0.0:0.6631	.	7898;7898;7827;7827;100	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	S	7898;53;544;7827;7898;7827;7510;2422;60;55;820;53	ENSP00000356224:R7898S;ENSP00000441052:R53S;ENSP00000356226:R544S;ENSP00000396024:R7827S;ENSP00000265368:R7898S;ENSP00000390975:R7827S;ENSP00000341887:R7510S;ENSP00000349276:R2422S;ENSP00000356220:R820S;ENSP00000346701:R53S	ENSP00000265368:R7898S	R	-	3	2	SYNE1	152527087	0.999000	0.42202	0.830000	0.32933	0.888000	0.51559	0.560000	0.23500	0.280000	0.22209	0.585000	0.79938	AGG		PASS	0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		31	89	31	89	---	---	---	---
RSPH3	83861	broad.mit.edu	37	6	159420467	159420467	+	Splice_Site	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:159420467G>T	ENST00000252655.1	-	1	731	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	RSPH3_ENST00000367069.2_Splice_Site_p.P39Q|RSPH3_ENST00000297262.3_Splice_Site_p.P181Q|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000449822.1_Splice_Site_p.P39Q|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	181								p.P181Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGTCACTCACGGCTGCGTCAG	0.662																																						uc003qrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(541-543)CCA>CAA		radial spoke 3 homolog							33.0	36.0	35.0					6																	159420467		2041	4099	6140	SO:0001630	splice_region_variant	83861							g.chr6:159420467G>T	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.542+1C>A	6.37:g.159420467G>T						RSPH3_uc010kju.2_Missense_Mutation_p.P181Q|RSPH3_uc003qry.1_Missense_Mutation_p.P181Q	p.P181Q	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	1	732	-		Breast(66;0.00519)|Ovarian(120;0.123)	181					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.542C>A	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814403	0.50527	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.12879	2.73;2.74;2.69;2.64	4.93	0.616	0.17613	.	0.737798	0.13033	N	0.419145	T	0.02156	0.0067	N	0.19112	0.55	0.22066	N	0.99938	B;B	0.24768	0.111;0.015	B;B	0.19391	0.025;0.005	T	0.47182	-0.9137	9	.	.	.	-0.7818	7.4606	0.27294	0.0:0.1577:0.3576:0.4848	.	181;181	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	Q	39;39;181;181	ENSP00000356036:P39Q;ENSP00000393195:P39Q;ENSP00000252655:P181Q;ENSP00000297262:P181Q	.	P	-	2	0	RSPH3	159340455	0.950000	0.32346	0.998000	0.56505	0.475000	0.33008	-0.090000	0.11163	0.086000	0.17137	0.563000	0.77884	CCA		PASS	0.662	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924	Missense_Mutation	8	28	8	28	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170627121	170627121	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr6:170627121C>G	ENST00000476287.1	+	2	751	c.643C>G	c.(643-645)Ctg>Gtg	p.L215V	FAM120B_ENST00000537664.1_Missense_Mutation_p.L238V|FAM120B_ENST00000540480.1_Missense_Mutation_p.L227V|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	215					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L215V(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CTGTGAGAGTCTGGGCCTCTG	0.502																																						uc003qxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(643-645)CTG>GTG		family with sequence similarity 120B							68.0	69.0	68.0					6																	170627121		2202	4299	6501	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627121C>G	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.643C>G	6.37:g.170627121C>G	ENSP00000417970:p.Leu215Val					FAM120B_uc003qxo.1_Missense_Mutation_p.L215V|FAM120B_uc011ehd.1_Intron	p.L215V	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	751	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	215					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.643C>G	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	9.055	0.993132	0.19043	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.60171	0.21;0.21;0.21	5.36	0.467	0.16721	.	0.074264	0.53938	D	0.000055	T	0.58337	0.2115	M	0.70275	2.135	0.42195	D	0.991748	D;D	0.76494	0.999;0.997	D;D	0.74674	0.984;0.974	T	0.60632	-0.7225	10	0.72032	D	0.01	-10.0007	6.5714	0.22541	0.0:0.6136:0.1202:0.2662	.	215;215	Q96EK7;F2Z2E1	F120B_HUMAN;.	V	227;238;215	ENSP00000444125:L227V;ENSP00000440125:L238V;ENSP00000417970:L215V	ENSP00000436640:L215V	L	+	1	2	FAM120B	170469046	0.014000	0.17966	0.008000	0.14137	0.035000	0.12851	0.226000	0.17776	0.061000	0.16311	-0.142000	0.14014	CTG		PASS	0.502	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		36	127	36	127	---	---	---	---
LFNG	3955	broad.mit.edu	37	7	2565317	2565317	+	Splice_Site	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:2565317A>T	ENST00000222725.5	+	5	755		c.e5-1		LFNG_ENST00000402045.1_Splice_Site|LFNG_ENST00000359574.3_Splice_Site|LFNG_ENST00000402506.1_Splice_Site|LFNG_ENST00000338732.3_Splice_Site|MIR4648_ENST00000580107.1_RNA	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase						compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)	p.?(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCCTTCTCCCAGCGTCCTGTC	0.692																																						uc003smf.2																			3	Unknown(3)		lung(3)		0						c.e5-2		lunatic fringe isoform a							66.0	66.0	66.0					7																	2565317		2203	4300	6503	SO:0001630	splice_region_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565317A>T	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.736-1A>T	7.37:g.2565317A>T						LFNG_uc003smg.2_Splice_Site_p.R246_splice	p.R246_splice	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	5	753	+		Ovarian(82;0.0112)						B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Splice_Site	SNP	ENST00000222725.5	37	c.736_splice	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407501	0.62399	.	.	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5617	0.68144	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LFNG	2531843	1.000000	0.71417	0.973000	0.42090	0.643000	0.38383	5.679000	0.68160	1.849000	0.53698	0.459000	0.35465	.		PASS	0.692	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304	Intron	9	22	9	22	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21751446	21751446	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:21751446G>A	ENST00000409508.3	+	42	6982	c.6951G>A	c.(6949-6951)ctG>ctA	p.L2317L	DNAH11_ENST00000328843.6_Silent_p.L2324L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2324	AAA 2. {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.L2324L(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						CTGGTATTCTGTATGTGAACC	0.408									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6970-6972)CTG>CTA		dynein, axonemal, heavy chain 11							99.0	96.0	97.0					7																	21751446		1911	4125	6036	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.chr7:21751446G>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.6951G>A	7.37:g.21751446G>A							p.L2324L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			43	7003	+			2324			AAA 2 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6972G>A																																																																																					PASS	0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		19	31	19	31	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31124364	31124364	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:31124364C>A	ENST00000304166.4	+	8	740	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.L151M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.L151M|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.L130M	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	151					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.L151M(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTATTACTACCTGTCAGTGAA	0.582																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(451-453)CTG>ATG		adenylate cyclase activating polypeptide 1							257.0	198.0	218.0					7																	31124364		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124364C>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.451C>A	7.37:g.31124364C>A	ENSP00000306620:p.Leu151Met					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.L130M|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.L151M|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.L151M|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.L151M|ADCYAP1R1_uc003tcf.1_5'Flank	p.L151M	NM_001118	NP_001109	P41586	PACR_HUMAN			8	674	+			151			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.451C>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	5.497	0.276760	0.10403	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.46063	1.08;0.88;0.88;0.88	5.8	-1.61	0.08399	.	0.242117	0.35096	N	0.003443	T	0.22322	0.0538	L	0.29908	0.895	0.38300	D	0.942947	B;B;B;B;B	0.18166	0.007;0.001;0.026;0.005;0.001	B;B;B;B;B	0.25614	0.061;0.039;0.062;0.026;0.016	T	0.04930	-1.0917	10	0.32370	T	0.25	.	1.1427	0.01769	0.23:0.3919:0.1119:0.2662	.	151;151;151;130;151	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	M	151;130;151;151	ENSP00000306620:L151M;ENSP00000387335:L130M;ENSP00000379514:L151M;ENSP00000386395:L151M	ENSP00000306620:L151M	L	+	1	2	ADCYAP1R1	31090889	1.000000	0.71417	0.945000	0.38365	0.274000	0.26718	0.736000	0.26130	-0.687000	0.05162	-0.747000	0.03512	CTG		PASS	0.582	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		17	117	17	117	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38279757	38279757	+	RNA	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:38279757C>A	ENST00000436911.2	-	0	436							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TGAGCTGCAGCAGTAGTGTAT	0.398																																						uc003tfu.3																			0											c.(250-252)CTG>CTT		SubName: Full=TARP protein;							73.0	66.0	68.0					7																	38279757		1944	4134	6078			0							g.chr7:38279757C>A	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38279757C>A						uc003tfv.2_Silent_p.L84L	p.L84L							5	487	-									Silent	SNP	ENST00000436911.2	37	c.252G>T																																																																																					PASS	0.398	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		9	16	9	16	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38299821	38299821	+	RNA	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:38299821C>A	ENST00000443402.2	-	0	388					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TGAGCTGCAGCAGTAGTGTAT	0.398																																						uc003tge.1																			0					0						c.(814-816)CTG>CTT		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							102.0	123.0	116.0					7																	38299821		1953	4169	6122			445347							g.chr7:38299821C>A	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38299821C>A						uc003tfx.1_5'Flank|uc003tfz.1_Intron|TARP_uc003tgb.2_Silent_p.L68L|TARP_uc003tgc.1_Silent_p.L68L|TARP_uc003tgd.1_Silent_p.L68L	p.L272L			A2JGV3	A2JGV3_HUMAN			7	1193	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Silent	SNP	ENST00000443402.2	37	c.816G>T																																																																																					PASS	0.398	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		17	70	17	70	---	---	---	---
VPS41	27072	broad.mit.edu	37	7	38807137	38807137	+	Splice_Site	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:38807137C>T	ENST00000310301.4	-	15	1301	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	VPS41_ENST00000395969.2_Splice_Site_p.R391H	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	416					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.R416H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCATCATTACCGTGCTGCTAT	0.323																																						uc003tgy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1246-1248)CGC>CAC		vacuolar protein sorting 41 isoform 1							86.0	81.0	82.0					7																	38807137		2203	4300	6503	SO:0001630	splice_region_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38807137C>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1247+1G>A	7.37:g.38807137C>T						VPS41_uc003tgz.2_Missense_Mutation_p.R391H|VPS41_uc010kxn.2_Missense_Mutation_p.R327H	p.R416H	NM_014396	NP_055211	P49754	VPS41_HUMAN			15	1273	-			416					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1247G>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899357	0.72754	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.18657	2.2;2.2	5.64	4.75	0.60458	.	0.046740	0.85682	D	0.000000	T	0.38585	0.1046	M	0.63843	1.955	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.57101	0.813;0.813;0.813	T	0.16988	-1.0384	9	.	.	.	-13.3768	16.5896	0.84761	0.0:0.8695:0.1305:0.0	.	416;391;416	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	H	416;391	ENSP00000309457:R416H;ENSP00000379297:R391H	.	R	-	2	0	VPS41	38773662	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	6.935000	0.75886	1.367000	0.46095	-0.176000	0.13171	CGC		PASS	0.323	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Missense_Mutation	16	90	16	90	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57194369	57194369	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:57194369G>A	ENST00000331162.4	-	3	366	c.96C>T	c.(94-96)tgC>tgT	p.C32C		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C32C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CACAATCCAGGCATTGCCATT	0.413																																						uc010kzo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(94-96)TGC>TGT		zinc finger protein 479							57.0	58.0	58.0					7																	57194369		2181	4288	6469	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194369G>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.96C>T	7.37:g.57194369G>A							p.C32C	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	367	-			32			KRAB.			Silent	SNP	ENST00000331162.4	37	c.96C>T	CCDS43590.1																																																																																				PASS	0.413	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		61	137	61	137	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77567025	77567025	+	Splice_Site	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:77567025A>G	ENST00000248550.7	+	12	1414		c.e12-1		PHTF2_ENST00000307305.8_Splice_Site|PHTF2_ENST00000422959.2_Splice_Site|PHTF2_ENST00000454592.1_Splice_Site|PHTF2_ENST00000424760.1_Splice_Site|PHTF2_ENST00000275575.7_Splice_Site|PHTF2_ENST00000416283.2_Splice_Site			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ttttttttataGAGTCATTTG	0.279																																						uc003ugs.3																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e12-2		putative homeodomain transcription factor 2							22.0	19.0	20.0					7																	77567025		1765	4019	5784	SO:0001630	splice_region_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77567025A>G	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1339-1A>G	7.37:g.77567025A>G						PHTF2_uc003ugp.2_Splice_Site_p.S409_splice|PHTF2_uc003ugq.3_Splice_Site_p.S409_splice|PHTF2_uc010ldv.2_Splice_Site_p.S409_splice|PHTF2_uc003ugt.3_Splice_Site_p.S413_splice|PHTF2_uc003ugu.3_Splice_Site_p.S409_splice|PHTF2_uc003ugv.2_Splice_Site_p.S272_splice|PHTF2_uc010ldw.1_Intron	p.S447_splice	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			12	1465	+								A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Splice_Site	SNP	ENST00000248550.7	37	c.1339_splice																																																																																					PASS	0.279	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	Intron	7	15	7	15	---	---	---	---
PON3	5446	broad.mit.edu	37	7	94992098	94992098	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:94992098C>T	ENST00000265627.5	-	7	761	c.751G>A	c.(751-753)Gat>Aat	p.D251N	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_Missense_Mutation_p.D251N	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	251					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.D251N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TCCCAGTTATCATGTTTTTCC	0.408																																						uc003unt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(751-753)GAT>AAT		paraoxonase 3							249.0	211.0	224.0					7																	94992098		2202	4299	6501	SO:0001583	missense	5446				aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity	g.chr7:94992098C>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.751G>A	7.37:g.94992098C>T	ENSP00000265627:p.Asp251Asn					PON1_uc011kih.1_Intron	p.D251N	NM_000940	NP_000931	Q15166	PON3_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		7	776	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		251					A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.751G>A	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358774	0.24598	.	.	ENSG00000105852	ENST00000265627	T	0.43688	0.94	4.98	4.09	0.47781	Six-bladed beta-propeller, TolB-like (1);	0.551912	0.21064	N	0.080762	T	0.32041	0.0816	L	0.38531	1.155	0.80722	D	1	B	0.17038	0.02	B	0.15870	0.014	T	0.07790	-1.0754	10	0.19147	T	0.46	-7.3215	12.9186	0.58220	0.0:0.9197:0.0:0.0803	.	251	Q15166	PON3_HUMAN	N	251	ENSP00000265627:D251N	ENSP00000265627:D251N	D	-	1	0	PON3	94830034	0.994000	0.37717	0.092000	0.20876	0.885000	0.51271	3.820000	0.55693	1.439000	0.47511	0.650000	0.86243	GAT		PASS	0.408	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		5	128	5	128	---	---	---	---
ASB4	51666	broad.mit.edu	37	7	95157272	95157272	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:95157272T>C	ENST00000325885.5	+	3	706	c.635T>C	c.(634-636)cTg>cCg	p.L212P	ASB4_ENST00000428113.1_Missense_Mutation_p.L212P	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	212					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.L212P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGACCCCCCTGGCCATCGCC	0.622											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(634-636)CTG>CCG		ankyrin repeat and SOCS box-containing protein 4							61.0	55.0	57.0					7																	95157272		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157272T>C	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.635T>C	7.37:g.95157272T>C	ENSP00000321388:p.Leu212Pro		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_uc003unx.2_Missense_Mutation_p.L212P	p.L212P	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	635	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		212			ANK 5.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.635T>C	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282516	0.80692	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.79352	-1.26;-1.26	4.87	4.87	0.63330	Ankyrin repeat-containing domain (3);	0.158806	0.43416	D	0.000578	D	0.90452	0.7010	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92850	0.6296	10	0.87932	D	0	-10.9334	15.1719	0.72881	0.0:0.0:0.0:1.0	.	212;212	Q9Y574;Q14D68	ASB4_HUMAN;.	P	212	ENSP00000321388:L212P;ENSP00000397070:L212P	ENSP00000321388:L212P	L	+	2	0	ASB4	94995208	1.000000	0.71417	0.491000	0.27477	0.970000	0.65996	7.997000	0.88414	2.132000	0.65825	0.379000	0.24179	CTG		PASS	0.622	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		15	60	15	60	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100451837	100451837	+	Silent	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:100451837A>T	ENST00000354161.3	+	2	143	c.18A>T	c.(16-18)tcA>tcT	p.S6S	SLC12A9_ENST00000275729.3_Silent_p.S6S|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000415287.1_Silent_p.S6S|SLC12A9_ENST00000428758.1_Silent_p.S6S|SLC12A9_ENST00000540482.1_Silent_p.S6S	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	6					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.S6S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCGAGAGCTCACCTCTGCTGG	0.627																																						uc003uwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)TCA>TCT		solute carrier family 12 (potassium/chloride							31.0	35.0	34.0					7																	100451837		2202	4298	6500	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100451837A>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.18A>T	7.37:g.100451837A>T						SLC12A9_uc003uwo.1_Silent_p.S6S|SLC12A9_uc003uwq.2_Silent_p.S6S|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank	p.S6S	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			2	160	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		6			Cytoplasmic (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.18A>T	CCDS5707.1																																																																																				PASS	0.627	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		30	52	30	52	---	---	---	---
TFEC	22797	broad.mit.edu	37	7	115590929	115590929	+	Splice_Site	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:115590929G>T	ENST00000265440.7	-	6	694	c.514C>A	c.(514-516)Cct>Act	p.P172T	TFEC_ENST00000484212.1_Splice_Site_p.P262T|TFEC_ENST00000457268.1_Splice_Site_p.P105T|TFEC_ENST00000320239.7_Splice_Site_p.P143T|TFEC_ENST00000393485.1_Splice_Site_p.P143T	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	172	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P172T(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGAACTCACGGATCATTAGAC	0.328																																						uc003vhj.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(514-516)CCT>ACT		transcription factor EC isoform a							41.0	44.0	43.0					7																	115590929		2203	4299	6502	SO:0001630	splice_region_variant	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115590929G>T	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.515+1C>A	7.37:g.115590929G>T						TFEC_uc003vhk.1_Missense_Mutation_p.P143T|TFEC_uc003vhl.3_Missense_Mutation_p.P143T|TFEC_uc011kmw.1_Missense_Mutation_p.P262T	p.P172T	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		6	698	-			172			Helix-loop-helix motif.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.514C>A	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567375	0.86439	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66	5.19	5.19	0.71726	Helix-loop-helix DNA-binding (5);	0.113414	0.64402	D	0.000008	D	0.97701	0.9246	L	0.41492	1.28	0.80722	D	1	P;D;D;D	0.71674	0.747;0.98;0.998;0.982	B;P;D;P	0.66084	0.418;0.818;0.941;0.83	D	0.98678	1.0691	10	0.62326	D	0.03	-11.2244	16.9012	0.86114	0.0:0.0:1.0:0.0	.	262;143;143;172	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	T	172;105;143;143;262	ENSP00000265440:P172T;ENSP00000387650:P105T;ENSP00000318676:P143T;ENSP00000377125:P143T;ENSP00000417432:P262T	ENSP00000265440:P172T	P	-	1	0	TFEC	115378165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.728000	0.98792	2.409000	0.81822	0.655000	0.94253	CCT		PASS	0.328	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	Missense_Mutation	12	185	12	185	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122787311	122787311	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:122787311T>A	ENST00000194130.2	-	7	753	c.714A>T	c.(712-714)aaA>aaT	p.K238N	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	238					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.K238N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AACACGTAAGTTTACGTGTCA	0.413																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(712-714)AAA>AAT		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						238.0	182.0	201.0					7																	122787311		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122787311T>A		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.714A>T	7.37:g.122787311T>A	ENSP00000194130:p.Lys238Asn					SLC13A1_uc010lks.2_Missense_Mutation_p.K114N	p.K238N	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			7	739	-			238					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.714A>T	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463976	0.63513	.	.	ENSG00000081800	ENST00000194130	T	0.02787	4.16	5.0	-1.3	0.09259	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00587	-1.1657	10	0.59425	D	0.04	-11.5659	10.2766	0.43515	0.0:0.5926:0.0:0.4074	.	238;238	A4D0X1;Q9BZW2	.;S13A1_HUMAN	N	238	ENSP00000194130:K238N	ENSP00000194130:K238N	K	-	3	2	SLC13A1	122574547	0.998000	0.40836	0.989000	0.46669	0.686000	0.39977	0.345000	0.19979	-0.237000	0.09739	0.460000	0.39030	AAA		PASS	0.413	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		39	41	39	41	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173615	126173615	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:126173615G>A	ENST00000339582.2	-	9	2629	c.1821C>T	c.(1819-1821)cgC>cgT	p.R607R	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.R607R|GRM8_ENST00000444921.2_Silent_p.R607R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	607					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R607R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGTCATTATAGCGGACAAAGG	0.458										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - coding silent(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1819-1821)CGC>CGT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						123.0	114.0	117.0					7																	126173615		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173615G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1821C>T	7.37:g.126173615G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.R607R|GRM8_uc010lkz.1_RNA	p.R607R	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2132	-		Prostate(267;0.186)	607			Helical; Name=1; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1821C>T	CCDS5794.1																																																																																				PASS	0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			11	52	11	52	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142567636	142567636	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:142567636A>T	ENST00000392957.2	+	17	3311	c.2524A>T	c.(2524-2526)Agt>Tgt	p.S842C	EPHB6_ENST00000411471.2_Missense_Mutation_p.S565C|EPHB6_ENST00000442129.1_Missense_Mutation_p.S842C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.S827C(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TACAACATCCAGTGATGTCTG	0.488																																						uc011kst.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(2524-2526)AGT>TGT		ephrin receptor EphB6 precursor							142.0	118.0	127.0					7																	142567636		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142567636A>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2524A>T	7.37:g.142567636A>T	ENSP00000376684:p.Ser842Cys					EPHB6_uc011ksu.1_Missense_Mutation_p.S842C|EPHB6_uc003wbs.2_Missense_Mutation_p.S550C|EPHB6_uc003wbt.2_Missense_Mutation_p.S316C|EPHB6_uc003wbu.2_Missense_Mutation_p.S550C|EPHB6_uc003wbv.2_Missense_Mutation_p.S226C	p.S842C	NM_004445	NP_004436	O15197	EPHB6_HUMAN			17	3311	+	Melanoma(164;0.059)		842			Cytoplasmic (Potential).|Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2524A>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253868	0.80135	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.89485	-2.52;-2.52;-2.52	5.69	5.69	0.88448	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000041	D	0.94231	0.8148	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94842	0.8006	10	0.87932	D	0	.	15.1431	0.72626	1.0:0.0:0.0:0.0	.	842;565	O15197;O15197-2	EPHB6_HUMAN;.	C	842;842;565	ENSP00000376684:S842C;ENSP00000410789:S842C;ENSP00000409061:S565C	ENSP00000376684:S842C	S	+	1	0	EPHB6	142277758	1.000000	0.71417	0.680000	0.29994	0.565000	0.35776	7.191000	0.77763	2.167000	0.68274	0.460000	0.39030	AGT		PASS	0.488	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			20	65	20	65	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146536904	146536904	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:146536904T>A	ENST00000361727.3	+	3	826	c.310T>A	c.(310-312)Tat>Aat	p.Y104N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	104	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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.Y104N(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)			CCAAGGAAGGTATAGCAGCTC	0.498										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(310-312)TAT>AAT		cell recognition molecule Caspr2 precursor							104.0	91.0	96.0					7																	146536904		2203	4300	6503	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.chr7:146536904T>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.310T>A	7.37:g.146536904T>A	ENSP00000354778:p.Tyr104Asn	HNSCC(39;0.1)					p.Y104N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	826	+	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)	104			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.310T>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483465	0.84854	.	.	ENSG00000174469	ENST00000361727	D	0.98075	-4.7	5.83	5.83	0.93111	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.51477	D	0.000087	D	0.98220	0.9411	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99278	1.0895	10	0.66056	D	0.02	.	15.0243	0.71656	0.0:0.0:0.0:1.0	.	104	Q9UHC6	CNTP2_HUMAN	N	104	ENSP00000354778:Y104N	ENSP00000354778:Y104N	Y	+	1	0	CNTNAP2	146167837	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.040000	0.89188	2.227000	0.72691	0.528000	0.53228	TAT		PASS	0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			14	85	14	85	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151970857	151970857	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr7:151970857G>A	ENST00000262189.6	-	7	1163	c.945C>T	c.(943-945)ggC>ggT	p.G315G	KMT2C_ENST00000355193.2_Silent_p.G315G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	315					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G315G(2)									CCTGAAAGGTGCCGGCTCCTG	0.428																																						uc003wla.2										N							medulloblastoma		2	Substitution - coding silent(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(943-945)GGC>GGT		myeloid/lymphoid or mixed-lineage leukemia 3							268.0	250.0	256.0					7																	151970857		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151970857G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.945C>T	7.37:g.151970857G>A							p.G315G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	7	1164	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	315					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.945C>T	CCDS5931.1																																																																																				PASS	0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	444	13	444	---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20107455	20107456	+	Missense_Mutation	DNP	CG	CG	GA	rs574451517		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:20107455_20107456CG>GA	ENST00000381569.1	-	4	1925_1926	c.1568_1569CG>TC	c.(1567-1569)tCG>tTC	p.S523F	LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.S523F			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	523					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S523F(1)|p.S523L(1)|p.S523S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGAAGCCCGAGGACATCTG	0.653																																						uc003wzr.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(1567-1569)TCG>TCC|c.(1567-1569)TCG>TTG		leucine zipper, putative tumor suppressor 1																																				SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107455C>G|g.chr8:20107456G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1568_1569delinsGA	8.37:g.20107455_20107456delinsGA	ENSP00000370981:p.Ser523Phe					LZTS1_uc010ltg.1_Intron	p.S523S|p.S523L	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1680|1679	-			523					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent|Missense_Mutation	SNP	ENST00000381569.1	37	c.1569G>C|c.1568C>T	CCDS6015.1																																																																																				PASS	0.653	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		16	63	16	63	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35425673	35425673	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:35425673A>T	ENST00000404895.2	+	3	708	c.380A>T	c.(379-381)cAt>cTt	p.H127L	UNC5D_ENST00000420357.1_Missense_Mutation_p.H127L|UNC5D_ENST00000453357.2_Missense_Mutation_p.H122L|UNC5D_ENST00000416672.1_Missense_Mutation_p.H127L|UNC5D_ENST00000287272.2_Missense_Mutation_p.H127L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	127	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.H122L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAGGACTTCCATGGGCCCGAG	0.532																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(379-381)CAT>CTT		unc-5 homolog D precursor							155.0	152.0	153.0					8																	35425673		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425673A>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.380A>T	8.37:g.35425673A>T	ENSP00000385143:p.His127Leu					UNC5D_uc003xjs.1_Missense_Mutation_p.H122L	p.H127L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	708	+			127			Extracellular (Potential).|Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.380A>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698883	0.68501	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	4.92	4.92	0.64577	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.979	D;P	0.70016	0.967;0.814	T	0.55471	-0.8136	10	0.72032	D	0.01	-16.764	14.8706	0.70453	1.0:0.0:0.0:0.0	.	122;127	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	L	127;127;127;127;122	ENSP00000385143:H127L;ENSP00000392739:H127L;ENSP00000287272:H127L;ENSP00000412652:H127L;ENSP00000394303:H122L	ENSP00000287272:H127L	H	+	2	0	UNC5D	35545215	0.941000	0.31946	0.937000	0.37676	0.952000	0.60782	3.372000	0.52387	1.979000	0.57680	0.533000	0.62120	CAT		PASS	0.532	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			74	238	74	238	---	---	---	---
LSM1	27257	broad.mit.edu	37	8	38027393	38027393	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:38027393C>T	ENST00000311351.4	-	3	553	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_Intron	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	53					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.G53D(1)		kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					GTATTTTTTGCCCACATGAAT	0.393																																						uc003xkw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GGC>GAC		Lsm1 protein							172.0	161.0	165.0					8																	38027393		2203	4300	6503	SO:0001583	missense	27257				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr8:38027393C>T	AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.158G>A	8.37:g.38027393C>T	ENSP00000310596:p.Gly53Asp					LSM1_uc003xkx.2_RNA	p.G53D	NM_014462	NP_055277	O15116	LSM1_HUMAN			3	346	-	Colorectal(12;0.000442)		53					B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	c.158G>A	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308842	0.60305	.	.	ENSG00000175324	ENST00000311351	T	0.44083	0.93	5.71	4.84	0.62591	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	N	0.21282	0.65	0.80722	D	1	B	0.26400	0.148	B	0.31614	0.133	T	0.08066	-1.0740	10	0.29301	T	0.29	-14.1962	14.7944	0.69868	0.0:0.931:0.0:0.069	.	53	O15116	LSM1_HUMAN	D	53	ENSP00000310596:G53D	ENSP00000310596:G53D	G	-	2	0	LSM1	38146550	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.701000	0.84566	1.429000	0.47314	-0.151000	0.13558	GGC		PASS	0.393	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462		5	306	5	306	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38162108	38162108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:38162108T>A	ENST00000317025.8	-	14	3125	c.2608A>T	c.(2608-2610)Aga>Tga	p.R870*	WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.R870*|WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.R870*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	870					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R870*(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CACTCACCTCTGGCACAAACG	0.393			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(2608-2610)AGA>TGA		WHSC1L1 protein isoform long							132.0	130.0	131.0					8																	38162108		1903	4122	6025	SO:0001587	stop_gained	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38162108T>A	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2608A>T	8.37:g.38162108T>A	ENSP00000313983:p.Arg870*					WHSC1L1_uc011lbm.1_Nonsense_Mutation_p.R870*|WHSC1L1_uc010lwe.2_Nonsense_Mutation_p.R870*	p.R870*	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		14	3126	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	870			PHD-type 3.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	c.2608A>T	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	T	44	11.084569	0.99513	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.62	3.12	0.35913	.	0.000000	0.52532	U	0.000062	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5854	0.56414	0.0:0.0:0.4029:0.5971	.	.	.	.	X	870;870;807;870	.	ENSP00000313983:R870X	R	-	1	2	WHSC1L1	38281265	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.093000	0.41710	0.444000	0.26612	0.528000	0.53228	AGA		PASS	0.393	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		58	161	58	161	---	---	---	---
PLEKHA2	59339	broad.mit.edu	37	8	38808484	38808484	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:38808484G>T	ENST00000521746.1	+	6	696	c.462G>T	c.(460-462)gtG>gtT	p.V154V	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Silent_p.V154V			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	154					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)	p.V154V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TTGGAGGGGTGGTGGTCCACA	0.612																																						uc003xmi.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)GTG>GTT		pleckstrin homology domain containing, family A							33.0	34.0	34.0					8																	38808484		1941	4129	6070	SO:0001819	synonymous_variant	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38808484G>T	AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.462G>T	8.37:g.38808484G>T						PLEKHA2_uc011lce.1_Silent_p.V104V	p.V154V	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)		6	696	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	154						Silent	SNP	ENST00000521746.1	37	c.462G>T																																																																																					PASS	0.612	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1	NM_021623		6	24	6	24	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52320664	52320664	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:52320664C>G	ENST00000356297.4	-	17	3620	c.3520G>C	c.(3520-3522)Gaa>Caa	p.E1174Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.E1174Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1174					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E373Q(1)|p.E1174Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTTTAATTTCATTTTGAAGA	0.358																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3520-3522)GAA>CAA		peroxidasin homolog-like precursor							56.0	55.0	55.0					8																	52320664		1827	4087	5914	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320664C>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3520G>C	8.37:g.52320664C>G	ENSP00000348645:p.Glu1174Gln					PXDNL_uc003xqt.3_RNA	p.E1174Q	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3621	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1174					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3520G>C	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.83|12.83	2.054176|2.054176	0.36277|0.36277	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.70164|.	-0.46;-0.46|.	3.82|3.82	3.82|3.82	0.43975|0.43975	.|.	0.000000|.	0.52532|.	D|.	0.000062|.	T|T	0.76807|0.76807	0.4039|0.4039	M|M	0.85710|0.85710	2.77|2.77	0.39466|0.39466	D|D	0.967658|0.967658	D|.	0.64830|.	0.994|.	D|.	0.67231|.	0.95|.	T|T	0.81138|0.81138	-0.1069|-0.1069	10|5	0.72032|.	D|.	0.01|.	.|.	13.1684|13.1684	0.59583|0.59583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1174|.	A1KZ92|.	PXDNL_HUMAN|.	Q|I	1174|292	ENSP00000348645:E1174Q;ENSP00000444865:E1174Q|.	ENSP00000348645:E1174Q|.	E|M	-|-	1|3	0|0	PXDNL|PXDNL	52483217|52483217	1.000000|1.000000	0.71417|0.71417	0.054000|0.054000	0.19295|0.19295	0.035000|0.035000	0.12851|0.12851	3.996000|3.996000	0.57009|0.57009	1.653000|1.653000	0.50694|0.50694	0.655000|0.655000	0.94253|0.94253	GAA|ATG		PASS	0.358	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		20	110	20	110	---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62212690	62212690	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:62212690C>A	ENST00000519846.1	+	3	776	c.304C>A	c.(304-306)Cag>Aag	p.Q102K	CLVS1_ENST00000325897.4_Missense_Mutation_p.Q102K|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	102					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.Q102K(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCAGTACCGCCAGCTAAACCT	0.507																																						uc003xuh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(304-306)CAG>AAG		retinaldehyde binding protein 1-like 1							65.0	63.0	64.0					8																	62212690		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212690C>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.304C>A	8.37:g.62212690C>A	ENSP00000428402:p.Gln102Lys					CLVS1_uc003xug.2_Missense_Mutation_p.Q102K|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.Q102K	p.Q102K	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	628	+			102					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.304C>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731332	0.48939	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.77358	-1.09;-1.09	5.79	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	L	0.38692	1.165	0.58432	D	0.999999	B;B	0.28324	0.024;0.207	B;B	0.40009	0.024;0.316	T	0.69803	-0.5046	9	.	.	.	-21.5075	16.1049	0.81213	0.1349:0.8651:0.0:0.0	.	102;102	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	K	102	ENSP00000428402:Q102K;ENSP00000325506:Q102K	.	Q	+	1	0	CLVS1	62375244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.423000	0.47198	0.655000	0.94253	CAG		PASS	0.507	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		18	128	18	128	---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62366774	62366774	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:62366774C>T	ENST00000519846.1	+	5	1177	c.705C>T	c.(703-705)ctC>ctT	p.L235L	CLVS1_ENST00000325897.4_Silent_p.L235L|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	235	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.L235L(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCTACACACTCATCAAGCCAT	0.448																																						uc003xuh.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)	5						c.(703-705)CTC>CTT		retinaldehyde binding protein 1-like 1							221.0	207.0	211.0					8																	62366774		2203	4300	6503	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62366774C>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.705C>T	8.37:g.62366774C>T						CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Silent_p.L235L	p.L235L	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			4	1029	+			235			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.705C>T	CCDS6176.1																																																																																				PASS	0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		48	406	48	406	---	---	---	---
CPA6	57094	broad.mit.edu	37	8	68397018	68397018	+	Missense_Mutation	SNP	G	G	C	rs34326072		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:68397018G>C	ENST00000297770.4	-	7	858	c.643C>G	c.(643-645)Cta>Gta	p.L215V	CPA6_ENST00000518549.1_Missense_Mutation_p.L215V|CPA6_ENST00000297769.4_Missense_Mutation_p.L67V	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	215						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L215V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTATATGTTAGAAGAGCCTAA	0.353																																						uc003xxq.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(643-645)CTA>GTA		carboxypeptidase A6 isoform 1 precursor							74.0	66.0	69.0					8																	68397018		2202	4300	6502	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68397018G>C	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.643C>G	8.37:g.68397018G>C	ENSP00000297770:p.Leu215Val					CPA6_uc003xxr.3_Missense_Mutation_p.L67V|CPA6_uc003xxs.2_Missense_Mutation_p.L215V	p.L215V	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		7	899	-			215					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.643C>G	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875768	0.33162	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.10668	2.85;2.85;2.85	5.25	4.38	0.52667	Peptidase M14, carboxypeptidase A (2);	0.335977	0.30714	N	0.009031	T	0.04227	0.0117	N	0.02751	-0.505	0.24060	N	0.996016	P;P;B	0.42248	0.604;0.774;0.039	B;B;B	0.35727	0.196;0.209;0.109	T	0.36359	-0.9751	10	0.30078	T	0.28	.	11.3147	0.49386	0.0865:0.0:0.9135:0.0	rs34326072	215;67;215	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	V	67;215;215	ENSP00000297769:L67V;ENSP00000297770:L215V;ENSP00000431112:L215V	ENSP00000297769:L67V	L	-	1	2	CPA6	68559572	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.982000	0.40638	1.336000	0.45506	0.643000	0.83706	CTA		PASS	0.353	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		24	158	24	158	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70594546	70594546	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:70594546G>C	ENST00000260126.4	-	7	2361	c.1655C>G	c.(1654-1656)aCa>aGa	p.T552R	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.T497R|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.T552R	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	552	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.T552R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCAGCTTCCTGTCAGATTCCT	0.423																																						uc003xyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1654-1656)ACA>AGA		solute carrier organic anion transporter family,							136.0	124.0	128.0					8																	70594546		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70594546G>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1655C>G	8.37:g.70594546G>C	ENSP00000260126:p.Thr552Arg					SLCO5A1_uc010lzb.2_Missense_Mutation_p.T497R|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.T552R	p.T552R	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		7	2362	-	Breast(64;0.0654)		552			Extracellular (Potential).|Kazal-like.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1655C>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054581	0.93793	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.40476	1.03;1.03;1.03	6.04	6.04	0.98038	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.812530	0.03820	N	0.267420	T	0.69369	0.3103	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.87578	0.998;0.975;0.958	T	0.54417	-0.8297	10	0.24483	T	0.36	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	497;552;552	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	R	552;552;497	ENSP00000260126:T552R;ENSP00000434422:T552R;ENSP00000431611:T497R	ENSP00000260126:T552R	T	-	2	0	SLCO5A1	70757100	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.799000	0.99117	2.873000	0.98535	0.561000	0.74099	ACA		PASS	0.423	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		29	242	29	242	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86027432	86027432	+	Silent	SNP	A	A	G	rs546783204		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:86027432A>G	ENST00000360375.3	+	5	791	c.642A>G	c.(640-642)tcA>tcG	p.S214S	LRRCC1_ENST00000414626.2_Silent_p.S194S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	214	LRRCT.				mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S214S(1)|p.S194S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAATAAATTCATCACAGCTGC	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		15262	0.0		0.0	False		,,,				2504	0.001					uc003ycw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(640-642)TCA>TCG		sodium channel associated protein 2 isoform a							96.0	97.0	96.0					8																	86027432		1823	4085	5908	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86027432A>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.642A>G	8.37:g.86027432A>G						LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Silent_p.S121S|LRRCC1_uc003ycy.2_Silent_p.S194S	p.S214S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			5	796	+			214			LRRCT.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.642A>G	CCDS43750.1																																																																																				PASS	0.348	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		161	141	161	141	---	---	---	---
CDH17	1015	broad.mit.edu	37	8	95164230	95164230	+	Silent	SNP	C	C	A	rs149027046		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:95164230C>A	ENST00000027335.3	-	13	1786	c.1662G>T	c.(1660-1662)acG>acT	p.T554T	CDH17_ENST00000450165.2_Silent_p.T554T|CDH17_ENST00000441892.2_Silent_p.T340T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.T554T(2)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACAATAAGCGTGAACTTGG	0.423																																						uc003ygh.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(5)|skin(1)	6						c.(1660-1662)ACG>ACT		cadherin 17 precursor							157.0	135.0	142.0					8																	95164230		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95164230C>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1662G>T	8.37:g.95164230C>A						CDH17_uc011lgo.1_Silent_p.T340T|CDH17_uc011lgp.1_Silent_p.T554T	p.T554T	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		13	1787	-	Breast(36;4.65e-06)		554			Extracellular (Potential).|Cadherin 5.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.1662G>T	CCDS6260.1																																																																																				PASS	0.423	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		41	213	41	213	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104709460	104709460	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:104709460G>T	ENST00000406091.3	+	2	323	c.323G>T	c.(322-324)tGt>tTt	p.C108F		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	139	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.C108F(1)|p.C144F(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCATAACTGTTCATATTGC	0.428										HNSCC(12;0.0054)																												uc003ylp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(322-324)TGT>TTT		regulating synaptic membrane exocytosis 2							196.0	195.0	195.0					8																	104709460		1983	4173	6156	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104709460G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.323G>T	8.37:g.104709460G>T	ENSP00000384892:p.Cys108Phe	HNSCC(12;0.0054)					p.C108F	NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	462	+			139			FYVE-type.|RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	c.323G>T	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691055	0.88735	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	D;D	0.99854	-7.19;-7.19	5.61	5.61	0.85477	.	.	.	.	.	D	0.99894	0.9949	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96566	0.9419	9	0.87932	D	0	.	19.6447	0.95771	0.0:0.0:1.0:0.0	.	108	F8WD47	.	F	108;139;108;139	ENSP00000427018:C108F;ENSP00000384892:C108F	ENSP00000332184:C139F	C	+	2	0	RIMS2	104778636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.627000	0.88993	0.561000	0.74099	TGT		PASS	0.428	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117		146	121	146	121	---	---	---	---
KCNV1	27012	broad.mit.edu	37	8	110984732	110984732	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:110984732C>T	ENST00000524391.1	-	3	1778	c.746G>A	c.(745-747)tGc>tAc	p.C249Y	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.C249Y			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	249					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.C249Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCAGCTAATGCACACATACTC	0.527																																						uc003ynr.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(745-747)TGC>TAC		potassium channel, subfamily V, member 1							77.0	69.0	72.0					8																	110984732		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984732C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.746G>A	8.37:g.110984732C>T	ENSP00000435954:p.Cys249Tyr					KCNV1_uc010mcw.2_Missense_Mutation_p.C249Y	p.C249Y	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	1088	-	all_neural(195;0.219)		249			Helical; Name=Segment S2; (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.746G>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451712	0.84209	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98437	-4.93;-4.93	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	M	0.90595	3.13	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.99585	1.0974	10	0.87932	D	0	.	18.5051	0.90894	0.0:1.0:0.0:0.0	.	249	Q6PIU1	KCNV1_HUMAN	Y	249;249;125	ENSP00000435954:C249Y;ENSP00000297404:C249Y	ENSP00000297404:C249Y	C	-	2	0	KCNV1	111053908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.610000	0.88304	0.557000	0.71058	TGC		PASS	0.527	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		38	66	38	66	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113657357	113657357	+	Silent	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:113657357A>T	ENST00000297405.5	-	20	3535	c.3291T>A	c.(3289-3291)gtT>gtA	p.V1097V	CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000343508.3_Silent_p.V1057V|MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000455883.2_Silent_p.V993V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1097	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1097V(2)|p.V1057V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTTACATCAACAGTCCATG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			3	Substitution - coding silent(3)		lung(2)|prostate(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3289-3291)GTT>GTA		CUB and Sushi multiple domains 3 isoform 1							93.0	92.0	92.0					8																	113657357		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113657357A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3291T>A	8.37:g.113657357A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.V369V|CSMD3_uc003ynt.2_Silent_p.V1057V|CSMD3_uc011lhx.1_Silent_p.V993V	p.V1097V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			20	3450	-			1097			Extracellular (Potential).|CUB 6.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3291T>A	CCDS6315.1																																																																																				PASS	0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		37	95	37	95	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120628618	120628618	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:120628618A>G	ENST00000075322.6	-	8	722	c.664T>C	c.(664-666)Tat>Cat	p.Y222H	ENPP2_ENST00000522826.1_Missense_Mutation_p.Y222H|ENPP2_ENST00000427067.2_Missense_Mutation_p.Y218H|ENPP2_ENST00000259486.6_Missense_Mutation_p.Y222H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	222					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.Y222H(2)		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)			GATTCTGGATATAGCCCCTTT	0.318																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(664-666)TAT>CAT		autotaxin isoform 2 preproprotein							64.0	62.0	63.0					8																	120628618		2203	4300	6503	SO:0001583	missense	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.chr8:120628618A>G	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.664T>C	8.37:g.120628618A>G	ENSP00000075322:p.Tyr222His					ENPP2_uc003yos.1_Missense_Mutation_p.Y222H|ENPP2_uc010mdd.1_Missense_Mutation_p.Y222H	p.Y222H	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	750	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		222					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.664T>C	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.590157	0.66105	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.81588	0.4854	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.998	D;D;D	0.83275	0.98;0.996;0.982	D	0.83656	0.0158	10	0.87932	D	0	.	15.7051	0.77573	1.0:0.0:0.0:0.0	.	222;222;222	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	H	222;218;222;222;204	ENSP00000259486:Y222H;ENSP00000403315:Y218H;ENSP00000428291:Y222H;ENSP00000075322:Y222H;ENSP00000428304:Y204H	ENSP00000075322:Y222H	Y	-	1	0	ENPP2	120697799	1.000000	0.71417	0.893000	0.35052	0.167000	0.22549	9.339000	0.96797	2.106000	0.64143	0.460000	0.39030	TAT		PASS	0.318	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			89	48	89	48	---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125570011	125570011	+	Missense_Mutation	SNP	G	G	A	rs150097928	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:125570011G>A	ENST00000518547.1	-	11	1614	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	MTSS1_ENST00000325064.5_Missense_Mutation_p.R385W|MTSS1_ENST00000524090.1_Missense_Mutation_p.R271W|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_Missense_Mutation_p.R155W|MTSS1_ENST00000378017.3_Intron|MTSS1_ENST00000431961.2_Intron|MTSS1_ENST00000354184.4_Intron|MTSS1_ENST00000523587.1_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	381					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R381W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAGGTGACCCGAGGGAGCAGG	0.562													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14726	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1141-1143)CGG>TGG		metastasis suppressor 1		G	TRP/ARG	12,4394	17.9+/-39.9	1,10,2192	94.0	72.0	79.0		1141	5.1	1.0	8	dbSNP_134	79	0,8600		0,0,4300	yes	missense	MTSS1	NM_014751.4	101	1,10,6492	AA,AG,GG		0.0,0.2724,0.0923	possibly-damaging	381/756	125570011	12,12994	2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125570011G>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1141C>T	8.37:g.125570011G>A	ENSP00000429064:p.Arg381Trp					NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'Flank|MTSS1_uc011lin.1_Missense_Mutation_p.R155W|MTSS1_uc011lio.1_Missense_Mutation_p.R271W|MTSS1_uc003yri.2_Intron|MTSS1_uc003yrj.2_Intron|MTSS1_uc003yrl.2_Missense_Mutation_p.R385W	p.R381W	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		11	1675	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		381					J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.1141C>T	CCDS6353.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	22.9|22.9	4.346431|4.346431	0.82022|0.82022	0.002724|0.002724	0.0|0.0	ENSG00000170873|ENSG00000170873	ENST00000518547;ENST00000395508;ENST00000325064;ENST00000524090;ENST00000522118|ENST00000519168	T;T;T;T;T|.	0.55052|.	1.27;1.24;1.27;1.14;0.54|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.359685|.	0.28736|.	N|.	0.014304|.	T|T	0.66346|0.66346	0.2780|0.2780	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;D;B|.	0.89917|.	0.99;1.0;0.0|.	P;D;B|.	0.75484|.	0.644;0.986;0.0|.	T|T	0.62656|0.62656	-0.6808|-0.6808	10|5	0.62326|.	D|.	0.03|.	-18.9984|-18.9984	18.6061|18.6061	0.91266|0.91266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	271;155;381|.	E7EWW5;B7Z3B6;O43312|.	.;.;MTSS1_HUMAN|.	W|L	381;155;385;271;181|168	ENSP00000429064:R381W;ENSP00000378884:R155W;ENSP00000322804:R385W;ENSP00000428319:R271W;ENSP00000428145:R181W|.	ENSP00000322804:R385W|.	R|S	-|-	1|2	2|0	MTSS1|MTSS1	125639192|125639192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.553000|7.553000	0.82203|0.82203	2.384000|2.384000	0.81235|0.81235	0.561000|0.561000	0.74099|0.74099	CGG|TCG		PASS	0.562	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		4	21	4	21	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143961099	143961099	+	Missense_Mutation	SNP	C	C	T	rs200952801		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:143961099C>T	ENST00000292427.4	-	1	163	c.131G>A	c.(130-132)cGt>cAt	p.R44H	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R44H|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R44H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	44					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R44H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GTTGCCTGGACGCCGGGGCAT	0.647									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0008	0.0	5008	,	,		19588	0.0		0.0	False		,,,				2504	0.0					uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(130-132)CGT>CAT		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)	T	HIS/ARG,HIS/ARG	0,4406		0,0,2203	67.0	62.0	64.0		131,131	-0.2	0.0	8		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	44/504,44/438	143961099	1,13005	2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143961099C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.131G>A	8.37:g.143961099C>T	ENSP00000292427:p.Arg44His					CYP11B1_uc003yxj.2_Missense_Mutation_p.R44H|CYP11B1_uc010mey.2_Missense_Mutation_p.R44H	p.R44H	NM_000497	NP_000488	P15538	C11B1_HUMAN			1	138	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		44					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.131G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.528576	0.00959	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.75050	-0.32;-0.32;-0.9	2.96	-0.212	0.13169	.	1.068100	0.07430	N	0.895534	T	0.41994	0.1183	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.21143	-1.0254	10	0.16420	T	0.52	.	2.9671	0.05911	0.2113:0.511:0.0:0.2778	.	44;44;44	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	H	44	ENSP00000292427:R44H;ENSP00000428043:R44H;ENSP00000366903:R44H	ENSP00000292427:R44H	R	-	2	0	CYP11B1	143958101	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.375000	0.07475	-0.225000	0.09913	-2.197000	0.00309	CGT		PASS	0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			17	128	17	128	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145003943	145003943	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:145003943G>A	ENST00000322810.4	-	23	3374	c.3205C>T	c.(3205-3207)Cac>Tac	p.H1069Y	PLEC_ENST00000354958.2_Missense_Mutation_p.H910Y|PLEC_ENST00000357649.2_Missense_Mutation_p.H936Y|PLEC_ENST00000436759.2_Missense_Mutation_p.H959Y|PLEC_ENST00000354589.3_Missense_Mutation_p.H932Y|PLEC_ENST00000356346.3_Missense_Mutation_p.H918Y|PLEC_ENST00000398774.2_Missense_Mutation_p.H900Y|PLEC_ENST00000527096.1_Missense_Mutation_p.H955Y|PLEC_ENST00000345136.3_Missense_Mutation_p.H932Y	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1069	Globular 1.				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.H959Y(1)|p.H932Y(1)|p.H1069Y(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						GCCTGGTAGTGCAGCTCCAGG	0.706																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(3205-3207)CAC>TAC		plectin isoform 1							10.0	13.0	12.0					8																	145003943		2054	4135	6189	SO:0001583	missense	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.chr8:145003943G>A	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.3205C>T	8.37:g.145003943G>A	ENSP00000323856:p.His1069Tyr					PLEC_uc003zab.1_Missense_Mutation_p.H932Y|PLEC_uc003zac.1_Missense_Mutation_p.H936Y|PLEC_uc003zad.2_Missense_Mutation_p.H932Y|PLEC_uc003zae.1_Missense_Mutation_p.H900Y|PLEC_uc003zag.1_Missense_Mutation_p.H910Y|PLEC_uc003zah.2_Missense_Mutation_p.H918Y|PLEC_uc003zaj.2_Missense_Mutation_p.H959Y	p.H1069Y	NM_201380	NP_958782	Q15149	PLEC_HUMAN			23	3375	-			1069			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.3205C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377852	0.42105	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79247	-1.21;-1.21;-1.25;-1.24;-1.23;-1.21;-1.21;-1.21;-1.21	5.09	5.09	0.68999	.	0.000000	0.64402	U	0.000004	D	0.83667	0.5304	M	0.67700	2.07	0.58432	D	0.999998	P;P;P;P;P;P;P;P	0.52316	0.952;0.952;0.952;0.92;0.952;0.952;0.952;0.952	P;P;P;P;P;P;P;P	0.52793	0.709;0.709;0.709;0.516;0.709;0.709;0.709;0.709	D	0.86128	0.1573	10	0.87932	D	0	.	18.0751	0.89424	0.0:0.0:1.0:0.0	.	959;918;910;1069;900;932;936;932	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Y	932;936;932;900;1069;910;918;959;955	ENSP00000344848:H932Y;ENSP00000350277:H936Y;ENSP00000346602:H932Y;ENSP00000381756:H900Y;ENSP00000323856:H1069Y;ENSP00000347044:H910Y;ENSP00000348702:H918Y;ENSP00000388180:H959Y;ENSP00000434583:H955Y	ENSP00000323856:H1069Y	H	-	1	0	PLEC	145075931	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	6.436000	0.73417	2.351000	0.79841	0.551000	0.68910	CAC		PASS	0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	23	3	23	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145661285	145661285	+	Missense_Mutation	SNP	C	C	T	rs200092098	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr8:145661285C>T	ENST00000409379.3	-	17	2560	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	844					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.R685H(1)|p.R844H(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ccggcggcTGCGGGTCAGGGG	0.731													c|||	8	0.00159744	0.0061	0.0	5008	,	,		13064	0.0		0.0	False		,,,				2504	0.0					uc011llg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2530-2532)CGC>CAC		NF-kappa-B inhibitor-like protein 2			HIS/ARG	10,4170		0,10,2080	10.0	15.0	13.0		2531	-8.4	0.0	8		13	1,8423		0,1,4211	no	missense	TONSL	NM_013432.4	29	0,11,6291	TT,TC,CC		0.0119,0.2392,0.0873	benign	844/1379	145661285	11,12593	2090	4212	6302	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661285C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2531G>A	8.37:g.145661285C>T	ENSP00000386239:p.Arg844His					uc011llh.1_Intron	p.R844H	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		17	2546	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		844					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.2531G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	9.821	1.185780	0.21870	0.002392	1.19E-4	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.43688	0.94	4.17	-8.35	0.00984	.	1.216130	0.05652	N	0.585283	T	0.22322	0.0538	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15867	-1.0422	10	0.40728	T	0.16	-0.5658	3.1924	0.06621	0.0983:0.2144:0.3934:0.2939	.	844	Q96HA7	TONSL_HUMAN	H	844;843	ENSP00000386239:R844H	ENSP00000386239:R844H	R	-	2	0	TONSL	145632093	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.357000	0.02607	-1.884000	0.01119	0.313000	0.20887	CGC		PASS	0.731	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		11	28	11	28	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	p.R58*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	384	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		PASS	0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		3	2	3	2	---	---	---	---
CDKN2B	1030	broad.mit.edu	37	9	22006222	22006222	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:22006222C>T	ENST00000276925.6	-	2	590	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	61					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)|p.V61M(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		AGCTCCGCCACGCGGGCGCTG	0.692																																						uc003zpo.2																			3	Whole gene deletion(2)|Substitution - Missense(1)		lung(3)	lung(1)	1						c.(181-183)GTG>ATG		cyclin-dependent kinase inhibitor 2B isoform 1							14.0	17.0	16.0					9																	22006222		2183	4279	6462	SO:0001583	missense	1030	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006222C>T	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.181G>A	9.37:g.22006222C>T	ENSP00000276925:p.Val61Met					MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_3'UTR	p.V61M	NM_004936	NP_004927	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	541	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	61			ANK 2.		O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.181G>A	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055965	0.55325	.	.	ENSG00000147883	ENST00000276925	T	0.65178	-0.14	4.5	4.5	0.54988	Ankyrin repeat-containing domain (4);	0.140402	0.49916	D	0.000124	T	0.63757	0.2538	L	0.36672	1.1	0.80722	D	1	D	0.57899	0.981	P	0.58970	0.849	T	0.66248	-0.5971	10	0.87932	D	0	-37.9483	8.3446	0.32266	0.0:0.8956:0.0:0.1044	.	61	P42772	CDN2B_HUMAN	M	61	ENSP00000276925:V61M	ENSP00000276925:V61M	V	-	1	0	CDKN2B	21996222	0.783000	0.28701	0.968000	0.41197	0.767000	0.43475	1.409000	0.34680	2.330000	0.79161	0.655000	0.94253	GTG		PASS	0.692	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		7	18	7	18	---	---	---	---
C9orf72	203228	broad.mit.edu	37	9	27558492	27558494	+	Missense_Mutation	TNP	TAG	TAG	GTA			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:27558492_27558494TAG>GTA	ENST00000380003.3	-	7	913_915	c.850_852CTA>TAC	c.(850-852)CTA>TAC	p.L284Y	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	284					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.L284L(2)|p.L284Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		ACTATACCTTTAGCAGGCCTTGT	0.335																																						uc003zqq.2																			3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)	ovary(3)|central_nervous_system(1)	4						c.(850-852)CTA>CTC|c.(850-852)CTA>CAA|c.(850-852)CTA>TTA		hypothetical protein LOC203228 isoform a																																				SO:0001583	missense	203228							g.chr9:27558492T>G|g.chr9:27558493A>T|g.chr9:27558494G>A	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.850_852CTA>TAC	9.37:g.27558492TAG>GTA	ENSP00000369339:p.Leu284Tyr						p.L284L|p.L284Q|p.L284L	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	7	949|948|947	-		all_neural(11;7.57e-10)	284					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent|Missense_Mutation|Silent	SNP	ENST00000380003.3	37	c.852A>C|c.851T>A|c.850C>T	CCDS6522.1																																																																																				PASS	0.335	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		6|6|5	81	5	81	---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39149959	39149959	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:39149959C>A	ENST00000297668.6	-	10	1566	c.1493G>T	c.(1492-1494)aGc>aTc	p.S498I	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S410I|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S498I|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S498I|CNTNAP3_ENST00000323947.7_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	498	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S498I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAGCCAGAGCTGTTGTCCAG	0.463																																						uc004abi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1492-1494)AGC>ATC		cell recognition molecule CASPR3 precursor							25.0	26.0	26.0					9																	39149959		2202	4298	6500	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39149959C>A	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1493G>T	9.37:g.39149959C>A	ENSP00000297668:p.Ser498Ile					CNTNAP3_uc004abj.2_Missense_Mutation_p.S498I|CNTNAP3_uc011lqr.1_Intron|CNTNAP3_uc004abk.1_Missense_Mutation_p.S498I|CNTNAP3_uc011lqs.1_Intron|CNTNAP3_uc004abl.1_Intron	p.S498I	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	10	1732	-			498			Extracellular (Potential).|Laminin G-like 2.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1493G>T	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	c	6.683	0.494618	0.12702	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	3.1	2.17	0.27698	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.75177	0.3814	L	0.56769	1.78	0.09310	N	0.999999	B;P;B	0.44241	0.012;0.829;0.061	B;P;B	0.48488	0.022;0.579;0.038	T	0.61676	-0.7014	9	0.30854	T	0.27	.	4.9065	0.13800	0.2132:0.6714:0.0:0.1154	.	498;498;498	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	I	498;498;410;498	ENSP00000297668:S498I;ENSP00000366884:S498I;ENSP00000350863:S410I;ENSP00000366887:S498I	ENSP00000297668:S498I	S	-	2	0	CNTNAP3	39139959	0.000000	0.05858	0.017000	0.16124	0.174000	0.22865	-0.029000	0.12329	0.615000	0.30124	0.460000	0.39030	AGC		PASS	0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		18	54	18	54	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73151520	73151520	+	Silent	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:73151520C>G	ENST00000377110.3	-	25	4716	c.4473G>C	c.(4471-4473)ccG>ccC	p.P1491P	TRPM3_ENST00000377105.1_Silent_p.P1350P|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Silent_p.P1350P|TRPM3_ENST00000377106.1_Silent_p.P1363P|TRPM3_ENST00000357533.2_Silent_p.P1495P|TRPM3_ENST00000396285.1_Silent_p.P1350P|TRPM3_ENST00000358082.3_Silent_p.P1353P|TRPM3_ENST00000423814.3_Silent_p.P1518P|TRPM3_ENST00000396280.5_Silent_p.P1340P|TRPM3_ENST00000360823.2_Silent_p.P1353P|TRPM3_ENST00000396292.4_Silent_p.P1363P			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1516					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.P1495P(1)|p.P1363P(1)|p.P1491P(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTGGTACATCGGAGGCTCTG	0.483																																						uc004aid.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(4471-4473)CCG>CCC		transient receptor potential cation channel,							104.0	109.0	107.0					9																	73151520		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73151520C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4473G>C	9.37:g.73151520C>G						TRPM3_uc004ahu.2_Silent_p.P1333P|TRPM3_uc004ahv.2_Silent_p.P1293P|TRPM3_uc004ahw.2_Silent_p.P1363P|TRPM3_uc004ahx.2_Silent_p.P1350P|TRPM3_uc004ahy.2_Silent_p.P1353P|TRPM3_uc004ahz.2_Silent_p.P1340P|TRPM3_uc004aia.2_Silent_p.P1338P|TRPM3_uc004aib.2_Silent_p.P1328P|TRPM3_uc004aic.2_Intron	p.P1491P	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	4717	-			1516			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	c.4473G>C	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	C	0.756	-0.771014	0.02974	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.02	-6.87	0.01671	.	.	.	.	.	T	0.50803	0.1637	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56872	-0.7907	4	.	.	.	-14.4847	10.0628	0.42286	0.0737:0.134:0.6605:0.1318	.	.	.	.	H	1340	.	.	D	-	1	0	TRPM3	72341340	0.000000	0.05858	0.069000	0.20011	0.881000	0.50899	-2.538000	0.00938	-0.817000	0.04335	-1.267000	0.01435	GAT		PASS	0.483	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		41	45	41	45	---	---	---	---
GDA	9615	broad.mit.edu	37	9	74856098	74856098	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:74856098T>C	ENST00000358399.3	+	11	1112	c.1019T>C	c.(1018-1020)cTt>cCt	p.L340P	GDA_ENST00000545168.1_Missense_Mutation_p.L266P|GDA_ENST00000376986.1_Missense_Mutation_p.L262P|GDA_ENST00000238018.4_Missense_Mutation_p.L340P|GDA_ENST00000376989.3_Missense_Mutation_p.L279P	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	340					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.L340P(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TATTCCATGCTTGATGCAATC	0.358																																						uc004aiq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1018-1020)CTT>CCT		guanine deaminase							80.0	78.0	79.0					9																	74856098		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74856098T>C	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1019T>C	9.37:g.74856098T>C	ENSP00000351170:p.Leu340Pro					GDA_uc011lse.1_Missense_Mutation_p.L266P|GDA_uc011lsf.1_Missense_Mutation_p.L266P|GDA_uc004air.2_Missense_Mutation_p.L340P|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.L262P	p.L340P	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	11	1202	+		Myeloproliferative disorder(762;0.0122)	340					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.1019T>C	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159860	0.78226	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.81	5.81	0.92471	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.91635	0.999;0.825;0.999	D	0.83968	0.0325	9	0.87932	D	0	-17.9802	13.691	0.62547	0.0:0.0:0.0:1.0	.	262;340;340	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	P	266;340;279;262;340;48	.	ENSP00000238018:L340P	L	+	2	0	GDA	74045918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.210000	0.72176	2.218000	0.71995	0.528000	0.53228	CTT		PASS	0.358	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			43	76	43	76	---	---	---	---
TEX10	54881	broad.mit.edu	37	9	103070787	103070787	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:103070787T>A	ENST00000374902.4	-	13	2636	c.2460A>T	c.(2458-2460)agA>agT	p.R820S	TEX10_ENST00000477648.1_5'Flank|TEX10_ENST00000535814.1_Missense_Mutation_p.R823S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	820						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.R820S(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATTACCTCTTTCTTAGATGTT	0.348																																						uc004bas.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2458-2460)AGA>AGT		testis expressed 10 isoform 1							56.0	58.0	57.0					9																	103070787		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103070787T>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2460A>T	9.37:g.103070787T>A	ENSP00000364037:p.Arg820Ser					TEX10_uc011lvf.1_Missense_Mutation_p.R659S|TEX10_uc011lvg.1_Missense_Mutation_p.R823S	p.R820S	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	13	2675	-		Acute lymphoblastic leukemia(62;0.0527)	820					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.2460A>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303926	0.40795	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.3	2.93	0.34026	.	0.470821	0.24072	N	0.041811	T	0.31231	0.0790	N	0.19112	0.55	0.80722	D	1	B;B;B	0.29301	0.02;0.241;0.006	B;B;B	0.25140	0.01;0.058;0.01	T	0.10177	-1.0641	9	0.59425	D	0.04	-1.4468	3.8635	0.09005	0.0:0.2255:0.1843:0.5902	.	823;688;820	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	S	823;820;688	.	ENSP00000364037:R820S	R	-	3	2	TEX10	102110608	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	0.893000	0.28336	0.321000	0.23259	0.477000	0.44152	AGA		PASS	0.348	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		41	36	41	36	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104432782	104432782	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:104432782G>T	ENST00000361820.3	-	3	2512	c.1912C>A	c.(1912-1914)Cgg>Agg	p.R638R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	638					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.R638G(1)|p.R638R(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACCTGGCTCCGTGCAGTATTG	0.532																																						uc004bbp.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1912-1914)CGG>AGG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						79.0	75.0	77.0					9																	104432782		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432782G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1912C>A	9.37:g.104432782G>T						GRIN3A_uc004bbq.1_Silent_p.R638R	p.R638R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2513	-		Acute lymphoblastic leukemia(62;0.0568)	638			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.1912C>A	CCDS6758.1																																																																																				PASS	0.532	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			28	92	28	92	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120476318	120476318	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:120476318G>C	ENST00000355622.6	+	3	2013	c.1912G>C	c.(1912-1914)Gtc>Ctc	p.V638L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V598L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	638					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.V638L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGGTGTGTCGGTCCTCAGTGT	0.438																																						uc004bjz.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1912-1914)GTC>CTC		toll-like receptor 4 precursor							199.0	165.0	177.0					9																	120476318		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476318G>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1912G>C	9.37:g.120476318G>C	ENSP00000363089:p.Val638Leu					TLR4_uc004bka.2_Missense_Mutation_p.V598L|TLR4_uc004bkb.2_Missense_Mutation_p.V438L	p.V638L	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2203	+			638			Helical; (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1912G>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852773	0.51270	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.39056	1.42;1.1	6.02	5.09	0.68999	.	0.193402	0.35970	N	0.002865	T	0.35828	0.0945	L	0.28694	0.88	0.47584	D	0.999469	B	0.17038	0.02	B	0.21151	0.033	T	0.13899	-1.0492	10	0.59425	D	0.04	.	17.3576	0.87341	0.0:0.1245:0.8755:0.0	.	638	O00206	TLR4_HUMAN	L	598;638	ENSP00000377997:V598L;ENSP00000363089:V638L	ENSP00000363089:V638L	V	+	1	0	TLR4	119516139	0.756000	0.28383	0.041000	0.18516	0.006000	0.05464	2.052000	0.41316	2.857000	0.98124	0.650000	0.86243	GTC		PASS	0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		15	54	15	54	---	---	---	---
REXO4	57109	broad.mit.edu	37	9	136272165	136272165	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:136272165T>G	ENST00000371942.3	-	8	1380	c.1181A>C	c.(1180-1182)tAc>tCc	p.Y394S	REXO4_ENST00000371935.2_Missense_Mutation_p.Y222S	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	394	Exonuclease.				regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y394S(1)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CACCATGACGTACAGCCTCAT	0.597											OREG0019587	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1180-1182)TAC>TCC		XPMC2 prevents mitotic catastrophe 2 homolog							169.0	128.0	142.0					9																	136272165		2203	4300	6503	SO:0001583	missense	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136272165T>G	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.1181A>C	9.37:g.136272165T>G	ENSP00000361010:p.Tyr394Ser		OREG0019587	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1624	REXO4_uc011mde.1_Missense_Mutation_p.Y257S|REXO4_uc011mdf.1_Missense_Mutation_p.Y257S|REXO4_uc004cdn.2_Missense_Mutation_p.Y145S|REXO4_uc004cdo.2_Missense_Mutation_p.Y222S	p.Y394S	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	8	1381	-			394			Exonuclease.		B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	c.1181A>C	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107999	0.56291	.	.	ENSG00000148300	ENST00000371942;ENST00000371935;ENST00000454825	T;T;T	0.25085	1.82;1.82;1.82	5.45	5.45	0.79879	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.81254	-0.1016	10	0.87932	D	0	.	13.2496	0.60043	0.0:0.0:0.0:1.0	.	222;394	Q9GZR2-2;Q9GZR2	.;REXO4_HUMAN	S	394;222;222	ENSP00000361010:Y394S;ENSP00000361003:Y222S;ENSP00000394229:Y222S	ENSP00000361003:Y222S	Y	-	2	0	REXO4	135261986	1.000000	0.71417	0.064000	0.19789	0.056000	0.15407	7.230000	0.78097	2.065000	0.61736	0.459000	0.35465	TAC		PASS	0.597	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			30	48	30	48	---	---	---	---
REXO4	57109	broad.mit.edu	37	9	136272167	136272167	+	Silent	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:136272167C>A	ENST00000371942.3	-	8	1378	c.1179G>T	c.(1177-1179)ctG>ctT	p.L393L	REXO4_ENST00000371935.2_Silent_p.L221L	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	393	Exonuclease.				regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L393L(1)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CCATGACGTACAGCCTCATTG	0.597											OREG0019587	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cdm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1177-1179)CTG>CTT		XPMC2 prevents mitotic catastrophe 2 homolog							170.0	129.0	143.0					9																	136272167		2203	4300	6503	SO:0001819	synonymous_variant	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136272167C>A	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.1179G>T	9.37:g.136272167C>A			OREG0019587	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1624	REXO4_uc011mde.1_Silent_p.L256L|REXO4_uc011mdf.1_Silent_p.L256L|REXO4_uc004cdn.2_Silent_p.L144L|REXO4_uc004cdo.2_Silent_p.L221L	p.L393L	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	8	1379	-			393			Exonuclease.		B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	ENST00000371942.3	37	c.1179G>T	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315551	0.23908	.	.	ENSG00000148300	ENST00000453165	T	0.13089	2.62	5.45	-10.1	0.00402	.	.	.	.	.	T	0.13798	0.0334	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49041	-0.8980	5	.	.	.	.	12.5352	0.56138	0.3054:0.5485:0.146:0.0	.	.	.	.	L	349	ENSP00000403272:V349L	.	V	-	1	0	REXO4	135261988	0.000000	0.05858	0.011000	0.14972	0.062000	0.15995	-3.018000	0.00644	-1.512000	0.01791	-0.311000	0.09066	GTA		PASS	0.597	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			29	47	29	47	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137717708	137717708	+	Silent	SNP	C	C	T	rs560774273		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr9:137717708C>T	ENST00000371817.3	+	63	5439	c.5025C>T	c.(5023-5025)gcC>gcT	p.A1675A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1675	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGA	0.592																																						uc004cfe.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(5023-5025)GCC>GCT		alpha 1 type V collagen preproprotein							81.0	71.0	74.0					9																	137717708		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137717708C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5025C>T	9.37:g.137717708C>T						uc004cff.2_Intron	p.A1675A	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	63	5407	+		Myeloproliferative disorder(178;0.0341)	1675			Fibrillar collagen NC1.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.5025C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	8.349	0.830575	0.16820	.	.	ENSG00000130635	ENST00000371820	.	.	.	4.05	-2.75	0.05914	.	.	.	.	.	T	0.48295	0.1492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41342	-0.9514	4	.	.	.	.	5.618	0.17442	0.0:0.2897:0.1482:0.562	.	.	.	.	W	95	.	.	R	+	1	2	COL5A1	136857529	0.207000	0.23482	0.025000	0.17156	0.713000	0.41058	-0.379000	0.07437	-0.373000	0.07979	0.280000	0.19369	CGG		PASS	0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		31	39	31	39	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7618475	7618475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:7618475G>T	ENST00000256861.6	-	10	1997	c.1919C>A	c.(1918-1920)tCg>tAg	p.S640*	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Nonsense_Mutation_p.S640*|ITIH5_ENST00000298441.6_Nonsense_Mutation_p.S426*|ITIH5_ENST00000397146.2_Nonsense_Mutation_p.S640*|ITIH5_ENST00000446830.2_Nonsense_Mutation_p.S422*	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	640					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S640*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CATGGCAGCCGACATGCCGTG	0.692																																						uc001ijq.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(1918-1920)TCG>TAG		inter-alpha trypsin inhibitor heavy chain							22.0	24.0	23.0					10																	7618475		2201	4295	6496	SO:0001587	stop_gained	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618475G>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1919C>A	10.37:g.7618475G>T	ENSP00000256861:p.Ser640*					ITIH5_uc001ijp.2_Nonsense_Mutation_p.S426*|ITIH5_uc001ijr.1_Nonsense_Mutation_p.S640*	p.S640*	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			10	1998	-			640					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Nonsense_Mutation	SNP	ENST00000256861.6	37	c.1919C>A		.	.	.	.	.	.	.	.	.	.	G	38	6.758572	0.97817	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	.	.	.	5.33	4.43	0.53597	.	1.399460	0.03990	N	0.294660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.107	11.5562	0.50750	0.0831:0.0:0.9169:0.0	.	.	.	.	X	640;640;426;422;640	.	ENSP00000256861:S640X	S	-	2	0	ITIH5	7658481	1.000000	0.71417	0.016000	0.15963	0.045000	0.14185	5.555000	0.67301	1.231000	0.43661	-0.291000	0.09656	TCG		PASS	0.692	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		13	29	13	29	---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13240736	13240736	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:13240736G>T	ENST00000484800.2	+	16	2273	c.2170G>T	c.(2170-2172)Gcc>Tcc	p.A724S	MCM10_ENST00000378714.3_Missense_Mutation_p.A723S|MCM10_ENST00000378694.1_Missense_Mutation_p.A723S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	724					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.A724S(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGAACAACTTGCCTATCTGGA	0.433																																						uc001ima.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2170-2172)GCC>TCC		minichromosome maintenance complex component 10							103.0	101.0	102.0					10																	13240736		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13240736G>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2170G>T	10.37:g.13240736G>T	ENSP00000418268:p.Ala724Ser					MCM10_uc001imb.2_Missense_Mutation_p.A723S|MCM10_uc001imc.2_Missense_Mutation_p.A723S	p.A724S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			16	2271	+			724					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.2170G>T	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550361	0.45383	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15017	2.47;2.47;2.46	5.13	2.2	0.27929	Replication factor Mcm10 (1);	0.414444	0.28889	N	0.013818	T	0.11922	0.0290	L	0.37507	1.11	0.41265	D	0.986807	B;B;B	0.20550	0.026;0.037;0.046	B;B;B	0.23150	0.044;0.023;0.04	T	0.15549	-1.0433	10	0.14656	T	0.56	-21.3233	9.2888	0.37773	0.068:0.0:0.6729:0.2591	.	723;723;724	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	S	723;724;724;723	ENSP00000367986:A723S;ENSP00000418268:A724S;ENSP00000367966:A723S	ENSP00000354945:A724S	A	+	1	0	MCM10	13280742	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.311000	0.43717	0.253000	0.21552	0.655000	0.94253	GCC		PASS	0.433	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		28	109	28	109	---	---	---	---
C10orf67	256815	broad.mit.edu	37	10	23622061	23622061	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:23622061G>A	ENST00000323327.4	-	2	327	c.260C>T	c.(259-261)gCc>gTc	p.A87V		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	87								p.A87V(1)		central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						AGTTTGAGTGGCATGGTCTGT	0.333																																						uc010qcx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)GCC>GTC		hypothetical protein LOC256815							113.0	109.0	110.0					10																	23622061		1857	4092	5949	SO:0001583	missense	256815							g.chr10:23622061G>A	BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.260C>T	10.37:g.23622061G>A	ENSP00000321464:p.Ala87Val						p.A87V	NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN			2	326	-			87					A8MUP9|Q5SWD4	Missense_Mutation	SNP	ENST00000323327.4	37	c.260C>T	CCDS44365.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787518	0.49997	.	.	ENSG00000179133	ENST00000376500;ENST00000323327	.	.	.	4.53	4.53	0.55603	.	0.105638	0.41500	D	0.000871	T	0.62233	0.2411	M	0.64997	1.995	0.29440	N	0.859194	D	0.71674	0.998	D	0.66196	0.942	T	0.59862	-0.7374	9	0.51188	T	0.08	-15.825	12.9668	0.58488	0.0:0.0:1.0:0.0	.	87	Q8IYJ2	CJ067_HUMAN	V	37;87	.	ENSP00000321464:A87V	A	-	2	0	C10orf67	23662067	1.000000	0.71417	0.993000	0.49108	0.138000	0.21146	5.259000	0.65485	2.511000	0.84671	0.655000	0.94253	GCC		PASS	0.333	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047213.1	NM_153714		4	89	4	89	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28233361	28233361	+	Splice_Site	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:28233361C>A	ENST00000305242.5	-	12	1626		c.e12-1		ARMC4_ENST00000545014.1_Splice_Site|ARMC4_ENST00000537576.1_Splice_Site|ARMC4_ENST00000480504.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4						cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGAACCAATCTGTGTGAGAA	0.338																																						uc009xky.2																			1	Unknown(1)		lung(1)	ovary(4)|skin(2)	6						c.e12-1		armadillo repeat containing 4							56.0	57.0	57.0					10																	28233361		2203	4300	6503	SO:0001630	splice_region_variant	55130						binding	g.chr10:28233361C>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1534-1G>T	10.37:g.28233361C>A						ARMC4_uc010qds.1_Splice_Site_p.I37_splice|ARMC4_uc010qdt.1_Splice_Site_p.I204_splice|ARMC4_uc001itz.2_Splice_Site_p.I512_splice|ARMC4_uc010qdu.1_Splice_Site_p.I204_splice	p.I512_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			12	1632	-								A8K906|B7Z7I1|Q9H0C0	Splice_Site	SNP	ENST00000305242.5	37	c.1534_splice	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335342	0.81801	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014;ENST00000537573	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3943	0.94601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARMC4	28273367	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.479000	0.81095	2.671000	0.90904	0.585000	0.79938	.		PASS	0.338	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	Intron	31	98	31	98	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33200848	33200848	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:33200848G>A	ENST00000396033.2	-	12	1809	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	ITGB1_ENST00000302278.3_Silent_p.F558F|ITGB1_ENST00000423113.1_Silent_p.F558F|ITGB1_ENST00000374956.4_Silent_p.F558F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	558	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.F558F(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TATCACAGTTGAAATTATCAC	0.403																																						uc001iws.3																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1672-1674)TTC>TTT		integrin beta 1 isoform 1A precursor							123.0	123.0	123.0					10																	33200848		2203	4300	6503	SO:0001819	synonymous_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200848G>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1674C>T	10.37:g.33200848G>A						ITGB1_uc001iwp.3_Silent_p.F558F|ITGB1_uc001iwq.3_Silent_p.F558F|ITGB1_uc001iwr.3_Silent_p.F558F|ITGB1_uc001iwt.3_Silent_p.F558F|ITGB1_uc001iwu.1_Silent_p.F558F	p.F558F	NM_133376	NP_596867	P05556	ITB1_HUMAN			12	1810	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	558			Extracellular (Potential).|Cysteine-rich tandem repeats.|II.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	c.1674C>T	CCDS7174.1																																																																																				PASS	0.403	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		66	310	66	310	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37451602	37451602	+	Missense_Mutation	SNP	C	C	A	rs557264466		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:37451602C>A	ENST00000602533.1	+	16	1857	c.1758C>A	c.(1756-1758)ttC>ttA	p.F586L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F586L|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.F586L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	642					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F586L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1756-1758)TTC>TTA		ankyrin repeat domain 30A							165.0	138.0	146.0					10																	37451602		1811	4065	5876	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37451602C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1758C>A	10.37:g.37451602C>A	ENSP00000473551:p.Phe586Leu						p.F586L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			16	1857	+			642					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1758C>A		.	.	.	.	.	.	.	.	.	.	.	0.007	-1.946589	0.00475	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.04654	3.58;3.58	0.731	-0.577	0.11727	.	.	.	.	.	T	0.01627	0.0052	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46582	-0.9181	9	0.02654	T	1	.	4.4238	0.11493	0.0:0.4288:0.5712:0.0	.	642	Q9BXX3	AN30A_HUMAN	L	586	ENSP00000354432:F586L;ENSP00000363792:F586L	ENSP00000354432:F586L	F	+	3	2	ANKRD30A	37491608	0.011000	0.17503	0.006000	0.13384	0.194000	0.23727	-0.860000	0.04272	-0.175000	0.10725	0.089000	0.15464	TTC		PASS	0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		35	207	35	207	---	---	---	---
ZNF25	219749	broad.mit.edu	37	10	38241620	38241620	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:38241620T>A	ENST00000302609.7	-	6	1018	c.806A>T	c.(805-807)cAg>cTg	p.Q269L	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	269					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.Q269L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GTGTGACTTCTGGGAAAAGGC	0.443																																						uc001ize.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(805-807)CAG>CTG		zinc finger protein 25							106.0	96.0	99.0					10																	38241620		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241620T>A	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.806A>T	10.37:g.38241620T>A	ENSP00000302222:p.Gln269Leu					ZNF25_uc001izf.1_Missense_Mutation_p.Q233L	p.Q269L	NM_145011	NP_659448	P17030	ZNF25_HUMAN			6	911	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	269			C2H2-type 6.		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.806A>T	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.803053	0.50315	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.06068	3.35	4.73	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001065	T	0.05823	0.0152	L	0.41573	1.285	0.34002	D	0.65042	B	0.22480	0.07	B	0.21708	0.036	T	0.18429	-1.0337	10	0.29301	T	0.29	-3.0494	7.8967	0.29710	0.183:0.0:0.0:0.817	.	269	P17030	ZNF25_HUMAN	L	269;233	ENSP00000302222:Q269L	ENSP00000302222:Q269L	Q	-	2	0	ZNF25	38281626	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.180000	0.16860	0.935000	0.37341	0.369000	0.22263	CAG		PASS	0.443	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		40	156	40	156	---	---	---	---
CSTF2T	23283	broad.mit.edu	37	10	53458538	53458538	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:53458538T>C	ENST00000331173.4	-	1	817	c.772A>G	c.(772-774)Atc>Gtc	p.I258V	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	258					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I258V(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCACCCTGGATAGGAGTCTGC	0.547																																						uc001jjp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(772-774)ATC>GTC		cleavage stimulation factor, 3' pre-RNA, subunit							42.0	46.0	45.0					10																	53458538		2203	4300	6503	SO:0001583	missense	23283				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr10:53458538T>C	AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.772A>G	10.37:g.53458538T>C	ENSP00000332444:p.Ile258Val					PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron	p.I258V	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN		COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)	1	818	-			258					B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	c.772A>G	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436704	0.25900	.	.	ENSG00000177613	ENST00000331173	T	0.20463	2.07	4.8	3.59	0.41128	.	0.293820	0.35207	N	0.003376	T	0.09642	0.0237	N	0.08118	0	0.28610	N	0.908716	B	0.29481	0.245	B	0.28011	0.085	T	0.19943	-1.0290	10	0.19590	T	0.45	-3.5789	9.9711	0.41754	0.0:0.0:0.1693:0.8306	.	258	Q9H0L4	CSTFT_HUMAN	V	258	ENSP00000332444:I258V	ENSP00000332444:I258V	I	-	1	0	CSTF2T	53128544	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.691000	0.47010	2.149000	0.67028	0.533000	0.62120	ATC		PASS	0.547	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235		12	78	12	78	---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54074314	54074314	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:54074314C>A	ENST00000373970.3	+	1	259	c.120C>A	c.(118-120)aaC>aaA	p.N40K	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	40					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)	p.N40K(1)		kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TCAATTCCAACGCTATCAAGA	0.672											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(118-120)AAC>AAA		dickkopf homolog 1 precursor							41.0	47.0	45.0					10																	54074314		2202	4295	6497	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074314C>A		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.120C>A	10.37:g.54074314C>A	ENSP00000363081:p.Asn40Lys		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	p.N40K	NM_012242	NP_036374	O94907	DKK1_HUMAN			1	274	+			40					B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.120C>A	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997166	0.74818	.	.	ENSG00000107984	ENST00000373970	T	0.56611	0.45	4.65	1.73	0.24493	.	0.112514	0.56097	D	0.000022	T	0.57403	0.2051	L	0.36672	1.1	0.47341	D	0.999391	D	0.76494	0.999	D	0.79108	0.992	T	0.55276	-0.8166	10	0.87932	D	0	-6.2494	7.7759	0.29037	0.0:0.7253:0.0:0.2747	.	40	O94907	DKK1_HUMAN	K	40	ENSP00000363081:N40K	ENSP00000363081:N40K	N	+	3	2	DKK1	53744320	0.999000	0.42202	0.997000	0.53966	0.960000	0.62799	0.333000	0.19768	0.138000	0.18790	0.655000	0.94253	AAC		PASS	0.672	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			20	104	20	104	---	---	---	---
TFAM	7019	broad.mit.edu	37	10	60148479	60148479	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:60148479T>G	ENST00000487519.1	+	4	867	c.341T>G	c.(340-342)aTa>aGa	p.I114R	TFAM_ENST00000373895.3_Missense_Mutation_p.I114R|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	114					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I114R(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAAGAAGAGATAAGCAGATTT	0.318																																						uc001jkf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)ATA>AGA		transcription factor A, mitochondrial precursor							93.0	108.0	103.0					10																	60148479		2203	4300	6503	SO:0001583	missense	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148479T>G	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.341T>G	10.37:g.60148479T>G	ENSP00000420588:p.Ile114Arg					TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Missense_Mutation_p.I114R	p.I114R	NM_003201	NP_003192	Q00059	TFAM_HUMAN			4	473	+			114			HMG box 1.		A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	ENST00000487519.1	37	c.341T>G	CCDS7253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.637|5.637	0.302148|0.302148	0.10678|0.10678	.|.	.|.	ENSG00000108064|ENSG00000108064	ENST00000395377|ENST00000487519;ENST00000373895	.|D;D	.|0.99232	.|-5.6;-5.6	5.93|5.93	2.16|2.16	0.27623|0.27623	.|High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.|0.717716	.|0.14201	.|N	.|0.334701	D|D	0.95900|0.95900	0.8665|0.8665	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B	.|0.30889	.|0.267;0.299	.|B;B	.|0.24541	.|0.054;0.035	D|D	0.93332|0.93332	0.6702|0.6702	5|10	.|0.54805	.|T	.|0.06	.|.	6.4913|6.4913	0.22117|0.22117	0.0:0.0791:0.2956:0.6254|0.0:0.0791:0.2956:0.6254	.|.	.|114;114	.|A8MRB2;Q00059	.|.;TFAM_HUMAN	E|R	95|114	.|ENSP00000420588:I114R;ENSP00000363002:I114R	.|ENSP00000363002:I114R	D|I	+|+	3|2	2|0	TFAM|TFAM	59818485|59818485	0.010000|0.010000	0.17322|0.17322	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	1.942000|1.942000	0.40243|0.40243	0.457000|0.457000	0.26962|0.26962	0.533000|0.533000	0.62120|0.62120	GAT|ATA		PASS	0.318	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		27	144	27	144	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70178815	70178815	+	Silent	SNP	A	A	G	rs538200699	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:70178815A>G	ENST00000358410.3	-	19	2993	c.2943T>C	c.(2941-2943)ttT>ttC	p.F981F	DNA2_ENST00000399179.2_Silent_p.F743F|DNA2_ENST00000399180.2_Silent_p.F1067F	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	981	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.F1067F(1)|p.F981F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TACTTCTAACAAAAGATACTA	0.393													A|||	2	0.000399361	0.0	0.0	5008	,	,		17851	0.0		0.0	False		,,,				2504	0.002					uc001jof.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3199-3201)TTT>TTC		DNA replication helicase 2 homolog							121.0	118.0	119.0					10																	70178815		1857	4103	5960	SO:0001819	synonymous_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70178815A>G	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2943T>C	10.37:g.70178815A>G						DNA2_uc001jog.1_Silent_p.F743F|DNA2_uc001joh.1_RNA	p.F1067F	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			19	3201	-			981					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.3201T>C		.	.	.	.	.	.	.	.	.	.	A	9.380	1.072679	0.20147	.	.	ENSG00000138346	ENST00000440722	.	.	.	5.09	3.96	0.45880	.	.	.	.	.	T	0.58104	0.2099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53121	-0.8483	4	.	.	.	.	7.9883	0.30224	0.8424:0.0:0.1576:0.0	.	.	.	.	R	303	.	.	C	-	1	0	DNA2	69848821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.460000	0.45031	0.794000	0.33899	0.482000	0.46254	TGT		PASS	0.393	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			23	138	23	138	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70406034	70406034	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:70406034A>G	ENST00000373644.4	+	4	3757	c.3548A>G	c.(3547-3549)tAt>tGt	p.Y1183C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1183					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.Y1183C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCCTATATGTATGGCACAATA	0.388																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(3547-3549)TAT>TGT		CXXC finger 6							74.0	76.0	75.0					10																	70406034		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70406034A>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3548A>G	10.37:g.70406034A>G	ENSP00000362748:p.Tyr1183Cys						p.Y1183C	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	4053	+			1183					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.3548A>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290090	0.23478	.	.	ENSG00000138336	ENST00000373644	T	0.11604	2.76	5.12	5.12	0.69794	.	0.205047	0.32002	N	0.006722	T	0.20861	0.0502	L	0.29908	0.895	0.31138	N	0.706953	D	0.89917	1.0	D	0.75484	0.986	T	0.03423	-1.1038	10	0.42905	T	0.14	.	13.5093	0.61502	1.0:0.0:0.0:0.0	.	1183	Q8NFU7	TET1_HUMAN	C	1183	ENSP00000362748:Y1183C	ENSP00000362748:Y1183C	Y	+	2	0	TET1	70076040	0.971000	0.33674	0.050000	0.19076	0.003000	0.03518	3.151000	0.50670	1.940000	0.56252	0.460000	0.39030	TAT		PASS	0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		41	161	41	161	---	---	---	---
R3HCC1L	27291	broad.mit.edu	37	10	99995216	99995216	+	Silent	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:99995216G>C	ENST00000298999.3	+	8	2370	c.2067G>C	c.(2065-2067)gtG>gtC	p.V689V	R3HCC1L_ENST00000370584.3_Silent_p.V689V|R3HCC1L_ENST00000314594.5_Silent_p.V105V|R3HCC1L_ENST00000370586.2_Silent_p.V95V	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	703							nucleotide binding (GO:0000166)	p.V689V(1)									ACACCATGGTGAAGATTCGTC	0.448																																						uc001kow.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(2065-2067)GTG>GTC		growth inhibition and differentiation related							122.0	98.0	106.0					10																	99995216		2203	4300	6503	SO:0001819	synonymous_variant	27291						nucleotide binding	g.chr10:99995216G>C	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.2067G>C	10.37:g.99995216G>C						C10orf28_uc001kox.3_Silent_p.V703V|C10orf28_uc001koy.3_Silent_p.V689V|C10orf28_uc009xvx.2_Silent_p.V689V|C10orf28_uc009xvy.2_Silent_p.V95V|C10orf28_uc001koz.3_RNA	p.V689V	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	7	2362	+		Colorectal(252;0.234)	689					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.2067G>C	CCDS31267.1																																																																																				PASS	0.448	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		17	61	17	61	---	---	---	---
HPSE2	60495	broad.mit.edu	37	10	100249878	100249878	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:100249878G>C	ENST00000370552.3	-	10	1455	c.1396C>G	c.(1396-1398)Cgg>Ggg	p.R466G	HPSE2_ENST00000370546.1_Missense_Mutation_p.R466G|HPSE2_ENST00000404542.1_Missense_Mutation_p.R354G|HPSE2_ENST00000370549.1_Missense_Mutation_p.R408G	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	466					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.R466G(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CGTGGCTTCCGCTGGAGCCCA	0.562																																						uc001kpn.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1396-1398)CGG>GGG		heparanase 2							82.0	83.0	83.0					10																	100249878		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100249878G>C	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1396C>G	10.37:g.100249878G>C	ENSP00000359583:p.Arg466Gly					HPSE2_uc009xwc.1_Missense_Mutation_p.R456G|HPSE2_uc001kpo.1_Missense_Mutation_p.R398G|HPSE2_uc009xwd.1_Missense_Mutation_p.R344G	p.R466G	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	10	1456	-			466					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1396C>G	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633653	0.67015	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.48201	0.82;0.84;1.39;0.85	5.61	2.34	0.29019	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.61218	1.895	0.54753	D	0.999988	D;D;D;D	0.71674	0.996;0.997;0.998;0.997	D;P;D;D	0.80764	0.992;0.882;0.994;0.987	T	0.60520	-0.7247	10	0.33141	T	0.24	-9.5982	14.1899	0.65633	0.0:0.0:0.2941:0.7059	.	354;466;408;466	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	G	466;408;466;354	ENSP00000359583:R466G;ENSP00000359580:R408G;ENSP00000359577:R466G;ENSP00000384384:R354G	ENSP00000359577:R466G	R	-	1	2	HPSE2	100239868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.097000	0.30988	0.575000	0.29434	0.591000	0.81541	CGG		PASS	0.562	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		17	86	17	86	---	---	---	---
GBF1	8729	broad.mit.edu	37	10	104129061	104129061	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:104129061A>T	ENST00000369983.3	+	24	3324	c.3064A>T	c.(3064-3066)Atc>Ttc	p.I1022F		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1022					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.I1022F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCATGGTGACATCCTGCGGGA	0.498																																						uc001kux.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3064-3066)ATC>TTC		golgi-specific brefeldin A resistant guanine							134.0	122.0	126.0					10																	104129061		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104129061A>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3064A>T	10.37:g.104129061A>T	ENSP00000359000:p.Ile1022Phe					GBF1_uc001kuy.1_Missense_Mutation_p.I1022F|GBF1_uc001kuz.1_Missense_Mutation_p.I1023F	p.I1022F	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	24	3304	+		Colorectal(252;0.0236)	1022					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3064A>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620203	0.87460	.	.	ENSG00000107862	ENST00000369983	T	0.68331	-0.32	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	L	0.60012	1.86	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.75484	0.931;0.923;0.986	T	0.71968	-0.4432	10	0.11794	T	0.64	-18.1734	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1022;1022;1022	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	F	1022	ENSP00000359000:I1022F	ENSP00000359000:I1022F	I	+	1	0	GBF1	104119051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ATC		PASS	0.498	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			34	152	34	152	---	---	---	---
SUFU	51684	broad.mit.edu	37	10	104353466	104353466	+	Missense_Mutation	SNP	G	G	A	rs199673680		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:104353466G>A	ENST00000369902.3	+	5	837	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Missense_Mutation_p.R224Q|SUFU_ENST00000423559.2_Missense_Mutation_p.R224Q|RNU6-43P_ENST00000384302.1_RNA	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	224					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R224Q(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GAGCTGCTGCGGACAGTGCCT	0.627			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				G|||	1	0.000199681	0.0	0.0	5008	,	,		20432	0.001		0.0	False		,,,				2504	0.0					uc001kvy.1			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	D|F|S	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(2)|breast(1)	7						c.(670-672)CGG>CAG		suppressor of fused							83.0	72.0	76.0					10																	104353466		2203	4300	6503	SO:0001583	missense	51684	Medulloblastoma_associated_with_Germline_SUFU_Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104353466G>A	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.671G>A	10.37:g.104353466G>A	ENSP00000358918:p.Arg224Gln					SUFU_uc001kvw.1_Missense_Mutation_p.R224Q|SUFU_uc001kvx.2_Missense_Mutation_p.R224Q|SUFU_uc009xxe.1_5'Flank|SUFU_uc009xxf.1_5'Flank	p.R224Q	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	817	+		Colorectal(252;0.207)	224					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	c.671G>A	CCDS7537.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.3	4.123675	0.77436	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.82255	-1.59;-1.59;-1.59	6.07	6.07	0.98685	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	L	0.35249	1.045	0.80722	D	1	P;P;P	0.51933	0.949;0.937;0.942	B;B;B	0.34652	0.187;0.055;0.123	T	0.72883	-0.4157	10	0.22109	T	0.4	-21.1473	20.6439	0.99570	0.0:0.0:1.0:0.0	.	224;224;224	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	Q	224	ENSP00000358918:R224Q;ENSP00000358915:R224Q;ENSP00000411597:R224Q	ENSP00000358915:R224Q	R	+	2	0	SUFU	104343456	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.476000	0.97823	2.890000	0.99128	0.650000	0.86243	CGG		PASS	0.627	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		5	62	5	62	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115392842	115392842	+	Splice_Site	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:115392842C>A	ENST00000359988.3	-	16	1877		c.e16+1		NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000369358.4_Splice_Site|NRAP_ENST00000360478.3_Splice_Site	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.?(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCTCTCTTACCTCACTGAAG	0.473																																						uc001laj.2																			1	Unknown(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.e16+1		nebulin-related anchoring protein isoform S							154.0	130.0	138.0					10																	115392842		2203	4300	6503	SO:0001630	splice_region_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115392842C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1632+1G>T	10.37:g.115392842C>A						NRAP_uc001lak.2_Splice_Site_p.E509_splice|NRAP_uc001lal.3_Splice_Site_p.E544_splice	p.E544_splice	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	16	1796	-		Colorectal(252;0.0233)|Breast(234;0.188)							Splice_Site	SNP	ENST00000359988.3	37	c.1632_splice	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257510	0.59321	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7784	0.96405	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRAP	115382832	1.000000	0.71417	0.998000	0.56505	0.436000	0.31835	6.929000	0.75852	2.673000	0.90976	0.557000	0.71058	.		PASS	0.473	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	Intron	45	73	45	73	---	---	---	---
VAX1	11023	broad.mit.edu	37	10	118895983	118895983	+	Splice_Site	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:118895983C>T	ENST00000369206.5	-	2	428	c.429G>A	c.(427-429)caG>caA	p.Q143Q	VAX1_ENST00000277905.2_Splice_Site_p.Q143Q	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	143					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q143Q(2)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGCCGGGTACCTGGGTCTCGG	0.637																																						uc009xyx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(427-429)CAG>CAA		ventral anterior homeobox 1 isoform a							35.0	37.0	37.0					10																	118895983		2203	4300	6503	SO:0001630	splice_region_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118895983C>T	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.429+1G>A	10.37:g.118895983C>T						VAX1_uc001ldb.1_Silent_p.Q143Q	p.Q143Q	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	674	-			143			Homeobox.		B1AVW5|Q6ZSX0	Silent	SNP	ENST00000369206.5	37	c.429G>A	CCDS44483.1																																																																																				PASS	0.637	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242	Silent	4	35	4	35	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123845054	123845054	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:123845054G>A	ENST00000369005.1	+	4	3379	c.3039G>A	c.(3037-3039)agG>agA	p.R1013R	TACC2_ENST00000515603.1_Silent_p.R1013R|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.R1013R|TACC2_ENST00000515273.1_Silent_p.R1013R|TACC2_ENST00000334433.3_Silent_p.R1013R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1013					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.R1013R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATGTCAAAGGCATCCAGGAG	0.547																																						uc001lfv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(3037-3039)AGG>AGA		transforming, acidic coiled-coil containing							33.0	35.0	34.0					10																	123845054		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845054G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3039G>A	10.37:g.123845054G>A						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.R1013R|TACC2_uc010qtv.1_Silent_p.R1013R	p.R1013R	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	3399	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1013					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.3039G>A	CCDS7626.1																																																																																				PASS	0.547	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			14	46	14	46	---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124708171	124708171	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:124708171C>A	ENST00000481909.1	-	4	866	c.642G>T	c.(640-642)caG>caT	p.Q214H	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	214								p.Q214H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTACCCGCTGCTGACACCTAA	0.378																																						uc001lgw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)CAG>CAT		hypothetical protein LOC80007							88.0	83.0	85.0					10																	124708171		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124708171C>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.642G>T	10.37:g.124708171C>A	ENSP00000419126:p.Gln214His					C10orf88_uc001lgx.2_Missense_Mutation_p.Q116H	p.Q214H	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	4	867	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	214					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.642G>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593046	0.28357	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.33	1.34	0.21922	.	0.000000	0.64402	U	0.000003	T	0.76183	0.3952	M	0.80847	2.515	0.41039	D	0.985219	D	0.89917	1.0	D	0.91635	0.999	T	0.76751	-0.2844	9	0.87932	D	0	.	9.7449	0.40440	0.0:0.689:0.0:0.311	.	214	Q9H8K7	CJ088_HUMAN	H	214	.	ENSP00000419126:Q214H	Q	-	3	2	C10orf88	124698161	0.996000	0.38824	0.990000	0.47175	0.131000	0.20780	0.250000	0.18235	0.390000	0.25115	-0.423000	0.05987	CAG		PASS	0.378	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		37	95	37	95	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134912152	134912152	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr10:134912152G>T	ENST00000392607.3	+	4	576	c.140G>T	c.(139-141)cGc>cTc	p.R47L	GPR123_ENST00000607359.1_Missense_Mutation_p.R767L	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	47					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R767L(1)|p.R47L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGCGCCATCCGCATCAGCCGC	0.662																																						uc001llx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(139-141)CGC>CTC		G protein-coupled receptor 123							57.0	52.0	54.0					10																	134912152		2203	4300	6503	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134912152G>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.140G>T	10.37:g.134912152G>T	ENSP00000376384:p.Arg47Leu					GPR123_uc001llw.2_Missense_Mutation_p.R767L	p.R47L	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	4	576	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	47			Cytoplasmic (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.140G>T	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440227	0.83993	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.52057	0.68	4.35	4.35	0.52113	GPCR, family 2-like (1);	0.000000	0.47093	D	0.000248	T	0.69333	0.3099	M	0.88310	2.945	0.80722	D	1	P;P	0.52316	0.952;0.766	P;P	0.58266	0.836;0.591	T	0.77397	-0.2603	10	0.87932	D	0	-44.621	14.7362	0.69416	0.0:0.0:1.0:0.0	.	47;767	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	L	767;767;47	ENSP00000376384:R47L	ENSP00000357566:R767L	R	+	2	0	GPR123	134762142	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	4.776000	0.62354	2.143000	0.66587	0.655000	0.94253	CGC		PASS	0.662	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			33	50	33	50	---	---	---	---
PNPLA2	57104	broad.mit.edu	37	11	822507	822507	+	Silent	SNP	C	C	A	rs552415591	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:822507C>A	ENST00000336615.4	+	5	799	c.597C>A	c.(595-597)tcC>tcA	p.S199S	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	199					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)	p.S199S(1)		breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGACAGCTCCACCAACATCC	0.592																																						uc001lrt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(595-597)TCC>TCA		patatin-like phospholipase domain containing 2							185.0	157.0	166.0					11																	822507		2203	4299	6502	SO:0001819	synonymous_variant	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:822507C>A	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.597C>A	11.37:g.822507C>A						PNPLA2_uc009ycl.2_5'Flank	p.S199S	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	799	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	199			Lumenal (Potential).		O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Silent	SNP	ENST00000336615.4	37	c.597C>A	CCDS7718.1																																																																																				PASS	0.592	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		27	111	27	111	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1263975	1263975	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:1263975C>T	ENST00000529681.1	+	31	5923	c.5865C>T	c.(5863-5865)ccC>ccT	p.P1955P	MUC5B_ENST00000447027.1_Silent_p.P1958P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1955	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P1958P(1)|p.P1955P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGCCACTCCCTCCTCCAGTC	0.642																																						uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(7942-7944)CCC>CCT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							154.0	197.0	182.0					11																	1263975		2182	4259	6441	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263975C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5865C>T	11.37:g.1263975C>T						MUC5B_uc001ltb.2_Silent_p.P1958P	p.P2648P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	47	8070	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1955			7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.7944C>T	CCDS44515.2																																																																																				PASS	0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		22	64	22	64	---	---	---	---
OR52K1	390036	broad.mit.edu	37	11	4510214	4510214	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:4510214G>T	ENST00000307632.3	+	1	106	c.84G>T	c.(82-84)tgG>tgT	p.W28C		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W28C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCATGCCTGGATCTCCATCC	0.498																																						uc001lza.1																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)TGG>TGT		olfactory receptor, family 52, subfamily K,							195.0	186.0	189.0					11																	4510214		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510214G>T	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.84G>T	11.37:g.4510214G>T	ENSP00000302422:p.Trp28Cys						p.W28C	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	84	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	28			Helical; Name=1; (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.84G>T	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720687	0.48728	.	.	ENSG00000196778	ENST00000307632	T	0.00321	8.11	3.7	3.7	0.42460	.	0.000000	0.41605	D	0.000849	T	0.00815	0.0027	M	0.88775	2.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.67550	-0.5642	10	0.87932	D	0	.	15.2327	0.73404	0.0:0.0:1.0:0.0	.	28	Q8NGK4	O52K1_HUMAN	C	28	ENSP00000302422:W28C	ENSP00000302422:W28C	W	+	3	0	OR52K1	4466790	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	2.143000	0.42187	2.359000	0.80004	0.505000	0.49811	TGG		PASS	0.498	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		65	205	65	205	---	---	---	---
OR51E2	81285	broad.mit.edu	37	11	4703143	4703143	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:4703143G>C	ENST00000396950.3	-	2	1038	c.799C>G	c.(799-801)Ctt>Gtt	p.L267V		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	267					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)	p.L267V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATGGGATGAAGGCTGTTTCCA	0.507																																						uc001lzk.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(799-801)CTT>GTT		olfactory receptor, family 51, subfamily E,							170.0	125.0	140.0					11																	4703143		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703143G>C	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.799C>G	11.37:g.4703143G>C	ENSP00000380153:p.Leu267Val						p.L267V	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	1043	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	267			Extracellular (Potential).		B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.799C>G	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.150911	0.01700	.	.	ENSG00000167332	ENST00000396950	T	0.00123	8.7	4.97	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	D	0.000912	T	0.00073	0.0002	N	0.03071	-0.42	0.09310	N	1	P	0.45283	0.855	B	0.41988	0.372	T	0.17592	-1.0364	10	0.02654	T	1	.	6.647	0.22941	0.0945:0.1829:0.7226:0.0	.	267	Q9H255	O51E2_HUMAN	V	267	ENSP00000380153:L267V	ENSP00000380153:L267V	L	-	1	0	OR51E2	4659719	0.000000	0.05858	0.562000	0.28370	0.655000	0.38815	-0.695000	0.05109	1.284000	0.44531	0.655000	0.94253	CTT		PASS	0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		20	70	20	70	---	---	---	---
OR52E2	119678	broad.mit.edu	37	11	5080646	5080646	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:5080646G>A	ENST00000321522.2	-	1	211	c.212C>T	c.(211-213)aCt>aTt	p.T71I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T71I(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCCACATCAGTGGTGGCCAA	0.488																																						uc010qyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(211-213)ACT>ATT		olfactory receptor, family 52, subfamily E,							100.0	87.0	91.0					11																	5080646		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080646G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.212C>T	11.37:g.5080646G>A	ENSP00000322088:p.Thr71Ile						p.T71I	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	212	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	71			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.212C>T	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.689623	0.00100	.	.	ENSG00000176787	ENST00000321522	T	0.02763	4.17	3.77	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	0.117120	0.38058	N	0.001837	T	0.01454	0.0047	N	0.11651	0.15	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.49771	-0.8904	10	0.08381	T	0.77	.	7.792	0.29125	0.6297:0.0:0.3703:0.0	.	71	Q8NGJ4	O52E2_HUMAN	I	71	ENSP00000322088:T71I	ENSP00000322088:T71I	T	-	2	0	OR52E2	5037222	0.000000	0.05858	0.657000	0.29651	0.037000	0.13140	-0.597000	0.05713	0.015000	0.14971	-0.260000	0.10688	ACT		PASS	0.488	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		13	30	13	30	---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142411	5142411	+	RNA	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:5142411G>T	ENST00000498233.1	-	0	987							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P133H(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACGCCTCAGAGGATAACAGAT	0.483																																						uc001lzz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(397-399)CCT>CAT		olfactory receptor, family 52, subfamily A,							69.0	62.0	64.0					11																	5142411		2201	4298	6499			390053							g.chr11:5142411G>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142411G>T						OR52A4_uc001maa.2_RNA	p.P133H	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	398	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Missense_Mutation	SNP	ENST00000498233.1	37	c.398C>A		.	.	.	.	.	.	.	.	.	.	G	7.484	0.649279	0.14516	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.78898	0.4356	.	.	.	0.24140	N	0.995732	D	0.89917	1.0	D	0.97110	1.0	D	0.84536	0.0636	6	0.87932	D	0	.	15.332	0.74219	0.0:0.0:1.0:0.0	.	133	A6NMU1	O52A4_HUMAN	H	133	.	ENSP00000369727:P133H	P	-	2	0	OR52A4	5098987	1.000000	0.71417	0.469000	0.27204	0.266000	0.26442	7.236000	0.78154	2.256000	0.74724	0.650000	0.86243	CCT		PASS	0.483	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		19	50	19	50	---	---	---	---
HPX	3263	broad.mit.edu	37	11	6462155	6462155	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:6462155C>A	ENST00000265983.3	-	1	139	c.39G>T	c.(37-39)ttG>ttT	p.L13F	HPX_ENST00000525057.1_Intron	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	13					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)	p.L13F(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ATAGGCTCCACAACCCCAGTG	0.562																																						uc001mdg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)TTG>TTT		hemopexin precursor							58.0	53.0	54.0					11																	6462155		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6462155C>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.39G>T	11.37:g.6462155C>A	ENSP00000265983:p.Leu13Phe					HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Missense_Mutation_p.L13F	p.L13F	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	1	100	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	13					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.39G>T	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	4.482	0.089355	0.08632	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.10668	2.85	3.83	0.786	0.18590	.	1.024130	0.07791	N	0.955018	T	0.09730	0.0239	N	0.08118	0	0.09310	N	1	D;B	0.57571	0.98;0.407	P;B	0.55303	0.773;0.128	T	0.30001	-0.9993	10	0.54805	T	0.06	-1.3178	4.5132	0.11921	0.3897:0.5013:0.0:0.109	.	13;13	B7Z8Q4;P02790	.;HEMO_HUMAN	F	13	ENSP00000265983:L13F	ENSP00000265983:L13F	L	-	3	2	HPX	6418731	0.037000	0.19845	0.148000	0.22405	0.089000	0.18198	-0.016000	0.12613	0.183000	0.20059	0.484000	0.47621	TTG		PASS	0.562	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		8	18	8	18	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033775	30033775	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:30033775A>T	ENST00000328224.6	-	2	1684	c.451T>A	c.(451-453)Tgt>Agt	p.C151S	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	151					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.C151S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTGTAGGAACACTCATCACCA	0.532																																						uc001msk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(451-453)TGT>AGT		potassium voltage-gated channel, shaker-related							68.0	66.0	66.0					11																	30033775		2190	4287	6477	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033775A>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.451T>A	11.37:g.30033775A>T	ENSP00000328511:p.Cys151Ser						p.C151S	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1603	-			151						Missense_Mutation	SNP	ENST00000328224.6	37	c.451T>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	A	3.144	-0.175620	0.06421	.	.	ENSG00000182255	ENST00000328224	D	0.96365	-3.99	4.66	2.23	0.28157	.	0.578103	0.12333	N	0.478203	D	0.87533	0.6201	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75110	-0.3433	10	0.08179	T	0.78	.	6.0277	0.19663	0.5995:0.3175:0.083:0.0	.	151	P22459	KCNA4_HUMAN	S	151	ENSP00000328511:C151S	ENSP00000328511:C151S	C	-	1	0	KCNA4	29990351	0.448000	0.25681	0.052000	0.19188	0.509000	0.34042	1.473000	0.35387	0.146000	0.19002	0.459000	0.35465	TGT		PASS	0.532	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		19	72	19	72	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812271	31812271	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:31812271G>T	ENST00000379132.3	-	11	1450	c.1170C>A	c.(1168-1170)ggC>ggA	p.G390G	PAX6_ENST00000241001.8_Silent_p.G390G|PAX6_ENST00000379107.2_Silent_p.G404G|PAX6_ENST00000379115.4_Silent_p.G404G|PAX6_ENST00000419022.1_Silent_p.G404G|PAX6_ENST00000379111.2_Silent_p.G390G|PAX6_ENST00000379129.2_Silent_p.G404G|PAX6_ENST00000379123.5_Silent_p.G390G			P26367	PAX6_HUMAN	paired box 6	390	Pro/Ser/Thr-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.G404G(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TTGAAGTGGTGCCCGAGGTGC	0.542									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc001mtd.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(1168-1170)GGC>GGA		paired box gene 6 isoform a							115.0	102.0	106.0					11																	31812271		2202	4299	6501	SO:0001819	synonymous_variant	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812271G>T	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1170C>A	11.37:g.31812271G>T						PAX6_uc001mte.3_Silent_p.G390G|PAX6_uc001mtg.3_Silent_p.G404G|PAX6_uc001mtf.3_Silent_p.G390G|PAX6_uc001mth.3_Silent_p.G390G|PAX6_uc009yjr.2_Silent_p.G390G	p.G390G	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			11	2060	-	Lung SC(675;0.225)		390			Pro/Ser/Thr-rich.		Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	c.1170C>A	CCDS31451.1																																																																																				PASS	0.542	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		22	88	22	88	---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46431886	46431886	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:46431886T>C	ENST00000458649.2	-	16	3567	c.3149A>G	c.(3148-3150)gAc>gGc	p.D1050G	AMBRA1_ENST00000314845.3_Missense_Mutation_p.D960G|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D990G|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D990G|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D1021G|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D931G|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D1021G			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1050					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)		p.D1050G(1)|p.D960G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTCAGCTGGTCCCAGTAGTA	0.527																																						uc010rgu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(3148-3150)GAC>GGC		activating molecule in beclin-1-regulated							117.0	101.0	107.0					11																	46431886		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46431886T>C	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3149A>G	11.37:g.46431886T>C	ENSP00000415327:p.Asp1050Gly					AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Missense_Mutation_p.D1021G|AMBRA1_uc001ncu.1_Missense_Mutation_p.D960G|AMBRA1_uc001ncv.2_Missense_Mutation_p.D1053G|AMBRA1_uc001ncw.2_Missense_Mutation_p.D931G|AMBRA1_uc001ncx.2_Missense_Mutation_p.D990G	p.D1050G	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	16	3509	-			1050					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3149A>G		.	.	.	.	.	.	.	.	.	.	T	23.6	4.431681	0.83776	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.74315	-0.66;-0.83;-0.46;-0.56;-0.46;-0.53;-0.56	5.86	5.86	0.93980	.	0.110751	0.64402	D	0.000009	T	0.72606	0.3481	N	0.24115	0.695	0.48901	D	0.999721	P;P;D;P;D;P	0.54964	0.941;0.827;0.969;0.906;0.961;0.827	P;P;P;P;P;P	0.53313	0.534;0.52;0.723;0.52;0.616;0.52	T	0.76929	-0.2777	10	0.87932	D	0	.	14.8261	0.70113	0.0:0.0:0.0:1.0	.	1050;1021;990;931;1053;960	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	G	960;931;990;1021;990;1050;1021	ENSP00000318313:D960G;ENSP00000433372:D931G;ENSP00000431926:D990G;ENSP00000410899:D1021G;ENSP00000298834:D990G;ENSP00000415327:D1050G;ENSP00000433945:D1021G	ENSP00000298834:D990G	D	-	2	0	AMBRA1	46388462	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.136000	0.64783	2.240000	0.73641	0.533000	0.62120	GAC		PASS	0.527	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		38	221	38	221	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515299	51515299	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:51515299C>T	ENST00000328188.1	+	1	18	c.18C>T	c.(16-18)aaC>aaT	p.N6N		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N6N(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATAGGAATAACATGACAGAGT	0.299																																						uc010ric.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(16-18)AAC>AAT		olfactory receptor, family 4, subfamily C,							126.0	121.0	123.0					11																	51515299		2201	4296	6497	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515299C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.18C>T	11.37:g.51515299C>T							p.N6N	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	18	+			6			Extracellular (Potential).			Silent	SNP	ENST00000328188.1	37	c.18C>T	CCDS31498.1																																																																																				PASS	0.299	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		37	132	37	132	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	56000266	56000266	+	Silent	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:56000266T>A	ENST00000313264.4	-	1	471	c.396A>T	c.(394-396)tcA>tcT	p.S132S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S132S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATCCAAGGAATGAAATGACTT	0.388																																						uc010rjc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(394-396)TCA>TCT		olfactory receptor, family 5, subfamily T,							130.0	118.0	122.0					11																	56000266		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000266T>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.396A>T	11.37:g.56000266T>A							p.S132S	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	396	-	Esophageal squamous(21;0.00448)		132			Extracellular (Potential).		B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.396A>T	CCDS31523.1																																																																																				PASS	0.388	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		28	159	28	159	---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56345037	56345037	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:56345037T>C	ENST00000526812.2	-	1	226	c.161A>G	c.(160-162)cAa>cGa	p.Q54R		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q54R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGTTTGCAGTTGGGAATTGGT	0.463																																						uc001niz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)CAA>CGA		olfactory receptor, family 5, subfamily M,							172.0	166.0	168.0					11																	56345037		1974	4159	6133	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56345037T>C	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.161A>G	11.37:g.56345037T>C	ENSP00000436004:p.Gln54Arg						p.Q54R	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	161	-			54			Cytoplasmic (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.161A>G	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	T	0.197	-1.048201	0.01981	.	.	ENSG00000254834	ENST00000526812	T	0.01034	5.42	4.04	-2.11	0.07187	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43686	-0.9376	9	0.02654	T	1	.	9.9568	0.41671	0.0:0.6508:0.0:0.3492	.	54	Q6IEU7	OR5MA_HUMAN	R	54	ENSP00000436004:Q54R	ENSP00000436004:Q54R	Q	-	2	0	OR5M10	56101613	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.036000	0.13819	-0.396000	0.07703	-0.319000	0.08680	CAA		PASS	0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		27	127	27	127	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183065	60183065	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:60183065C>G	ENST00000300187.6	+	5	901	c.624C>G	c.(622-624)ttC>ttG	p.F208L	MS4A14_ENST00000531783.1_Missense_Mutation_p.F241L|MS4A14_ENST00000395005.2_Missense_Mutation_p.F191L|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.F96L	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	208						integral component of membrane (GO:0016021)		p.F208L(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATGCTTTCTTCAAGTTAACAC	0.373																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(622-624)TTC>TTG		membrane-spanning 4-domains, subfamily A, member							122.0	121.0	122.0					11																	60183065		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183065C>G	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.624C>G	11.37:g.60183065C>G	ENSP00000300187:p.Phe208Leu					MS4A14_uc001npi.2_Missense_Mutation_p.F96L|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.F191L|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.F208L	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1189	+			208					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.624C>G	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450343	0.63290	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.21932	5.01;5.01;5.01;1.98	3.63	1.76	0.24704	.	10.126600	0.00166	N	0.000000	T	0.44561	0.1299	M	0.69823	2.125	0.80722	D	1	D;D	0.61697	0.987;0.99	P;D	0.65987	0.901;0.94	T	0.18903	-1.0322	10	0.72032	D	0.01	-17.3593	5.6421	0.17569	0.0:0.753:0.0:0.247	.	191;208	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	L	96;208;191;241	ENSP00000437222:F96L;ENSP00000300187:F208L;ENSP00000378453:F191L;ENSP00000433761:F241L	ENSP00000300187:F208L	F	+	3	2	MS4A14	59939641	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	1.520000	0.35899	0.517000	0.28361	0.650000	0.86243	TTC		PASS	0.373	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			35	165	35	165	---	---	---	---
GANAB	23193	broad.mit.edu	37	11	62394373	62394373	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:62394373G>A	ENST00000356638.3	-	20	2372	c.2356C>T	c.(2356-2358)Cat>Tat	p.H786Y	GANAB_ENST00000346178.4_Missense_Mutation_p.H808Y|GANAB_ENST00000534779.1_Missense_Mutation_p.H694Y|GANAB_ENST00000540933.1_Missense_Mutation_p.H689Y	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	786					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)	p.H786Y(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TGGGGACCATGATGCTTCTGG	0.527																																					Melanoma(23;1005 1074 15747 18937)	uc001nub.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2356-2358)CAT>TAT		neutral alpha-glucosidase AB isoform 2							81.0	76.0	78.0					11																	62394373		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62394373G>A	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2356C>T	11.37:g.62394373G>A	ENSP00000349053:p.His786Tyr					GANAB_uc001ntz.2_5'UTR|GANAB_uc001nua.2_Missense_Mutation_p.H808Y|GANAB_uc001nuc.2_Missense_Mutation_p.H689Y|GANAB_uc010rma.1_Missense_Mutation_p.H694Y|GANAB_uc010rmb.1_Missense_Mutation_p.H672Y	p.H786Y	NM_198334	NP_938148	Q14697	GANAB_HUMAN			20	2389	-			786					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.2356C>T	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523490	0.27299	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	4.96	2.93	0.34026	.	0.302490	0.36200	N	0.002739	T	0.82153	0.4975	L	0.35288	1.05	0.29973	N	0.818355	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.72890	-0.4155	10	0.45353	T	0.12	-8.6457	4.3372	0.11092	0.2264:0.1814:0.5922:0.0	.	672;694;786;808	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	Y	808;786;694;689	ENSP00000340466:H808Y;ENSP00000349053:H786Y;ENSP00000435306:H694Y;ENSP00000442962:H689Y	ENSP00000340466:H808Y	H	-	1	0	GANAB	62150949	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.689000	0.46993	0.554000	0.29061	-0.367000	0.07326	CAT		PASS	0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		6	42	6	42	---	---	---	---
FGF3	2248	broad.mit.edu	37	11	69625434	69625434	+	Missense_Mutation	SNP	C	C	T	rs571671602		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:69625434C>T	ENST00000334134.2	-	3	449	c.359G>A	c.(358-360)cGg>cAg	p.R120Q		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	120					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.R120Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CTCGTGGATCCGCTCCACAAA	0.652													C|||	0	0.0	0.0	0.0	5008	,	,		17257	0.0		0.0	False		,,,				2504	0.0					uc001oph.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(358-360)CGG>CAG		fibroblast growth factor 3 precursor							41.0	46.0	44.0					11																	69625434		2197	4286	6483	SO:0001583	missense	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69625434C>T		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.359G>A	11.37:g.69625434C>T	ENSP00000334122:p.Arg120Gln						p.R120Q	NM_005247	NP_005238	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		3	850	-			120					Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	c.359G>A	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354359	0.82243	.	.	ENSG00000186895	ENST00000334134	D	0.81739	-1.53	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.84853	0.5564	L	0.41573	1.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84395	0.0557	9	.	.	.	.	15.9315	0.79663	0.0:1.0:0.0:0.0	.	120	P11487	FGF3_HUMAN	Q	120	ENSP00000334122:R120Q	.	R	-	2	0	FGF3	69334615	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.104000	0.77024	1.714000	0.51371	0.462000	0.41574	CGG		PASS	0.652	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		40	696	40	696	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76901870	76901870	+	Silent	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:76901870C>G	ENST00000409709.3	+	30	4151	c.3879C>G	c.(3877-3879)ctC>ctG	p.L1293L	MYO7A_ENST00000409619.2_Silent_p.L1282L|MYO7A_ENST00000458637.2_Silent_p.L1293L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1293	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.L1293L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGATCTCTCTCAAGGACCGGT	0.627																																						uc001oyb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(3877-3879)CTC>CTG		myosin VIIA isoform 1							50.0	61.0	58.0					11																	76901870		2089	4195	6284	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76901870C>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3879C>G	11.37:g.76901870C>G						MYO7A_uc010rsm.1_Silent_p.L1282L|MYO7A_uc001oyc.2_Silent_p.L1293L|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Silent_p.L504L	p.L1293L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			30	4151	+			1293			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.3879C>G	CCDS53683.1																																																																																				PASS	0.627	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		3	125	3	125	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88300889	88300889	+	Silent	SNP	G	G	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:88300889G>C	ENST00000305447.4	-	7	2111	c.1962C>G	c.(1960-1962)tcC>tcG	p.S654S	GRM5_ENST00000455756.2_Silent_p.S654S|GRM5_ENST00000305432.5_Silent_p.S654S|GRM5_ENST00000393297.1_Silent_p.S654S|GRM5_ENST00000418177.2_Silent_p.S654S	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	654					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.S654S(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCATGGCTGGGGAGAGACCAA	0.493																																						uc001pcq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1960-1962)TCC>TCG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						136.0	125.0	129.0					11																	88300889		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300889G>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1962C>G	11.37:g.88300889G>C						GRM5_uc009yvm.2_Silent_p.S654S	p.S654S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2162	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	654			Helical; Name=3; (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.1962C>G	CCDS44694.1																																																																																				PASS	0.493	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		11	36	11	36	---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103907666	103907666	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:103907666G>A	ENST00000302259.3	+	1	359	c.116G>A	c.(115-117)aGa>aAa	p.R39K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	39	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.						aspartic-type endopeptidase activity (GO:0004190)	p.R39K(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCGGAGTCCAGAGTCCCCGTC	0.587																																						uc001phr.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(115-117)AGA>AAA		DDI1, DNA-damage inducible 1, homolog 1							99.0	100.0	100.0					11																	103907666		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907666G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.116G>A	11.37:g.103907666G>A	ENSP00000302805:p.Arg39Lys					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.R39K	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	359	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	39			Ubiquitin-like.		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.116G>A	CCDS31660.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.06|15.06	2.722402|2.722402	0.48728|0.48728	.|.	.|.	ENSG00000170967|ENSG00000170962	ENST00000302259|ENST00000529268	T|T	0.72505|0.29142	-0.66|1.58	4.97|4.97	4.97|4.97	0.65823|0.65823	Ubiquitin supergroup (1);Ubiquitin (2);|.	0.128163|.	0.53938|.	D|.	0.000048|.	T|T	0.28962|0.28962	0.0719|0.0719	N|N	0.19112|0.19112	0.55|0.55	0.25534|0.25534	N|N	0.987244|0.987244	B|.	0.29862|.	0.259|.	B|.	0.39706|.	0.307|.	T|T	0.20438|0.20438	-1.0275|-1.0275	10|7	0.52906|0.59425	T|D	0.07|0.04	-8.352|-8.352	13.942|13.942	0.64062|0.64062	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	39|.	Q8WTU0|.	DDI1_HUMAN|.	K|F	39|30	ENSP00000302805:R39K|ENSP00000432909:S30F	ENSP00000302805:R39K|ENSP00000432909:S30F	R|S	+|-	2|2	0|0	DDI1|PDGFD	103412876|103412876	1.000000|1.000000	0.71417|0.71417	0.068000|0.068000	0.19968|0.19968	0.008000|0.008000	0.06430|0.06430	6.216000|6.216000	0.72212|0.72212	2.757000|2.757000	0.94681|0.94681	0.655000|0.655000	0.94253|0.94253	AGA|TCT		PASS	0.587	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		59	167	59	167	---	---	---	---
HTR3B	9177	broad.mit.edu	37	11	113816817	113816817	+	Silent	SNP	C	C	A	rs200656497		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:113816817C>A	ENST00000260191.2	+	9	1541	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	HTR3B_ENST00000537778.1_Silent_p.T417T	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	428					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.T428T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GGATCTACACCATCACTCTGT	0.552																																						uc001pok.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1282-1284)ACC>ACA		5-hydroxytryptamine (serotonin) receptor 3B							85.0	77.0	80.0					11																	113816817		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113816817C>A	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1284C>A	11.37:g.113816817C>A						HTR3B_uc001pol.2_Silent_p.T417T	p.T428T	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	9	1351	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	428			Helical; Name=4; (Potential).		B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.1284C>A	CCDS8364.1																																																																																				PASS	0.552	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		42	43	42	43	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118372451	118372451	+	Silent	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:118372451T>A	ENST00000389506.5	+	26	6375	c.6375T>A	c.(6373-6375)ccT>ccA	p.P2125P	KMT2A_ENST00000534358.1_Silent_p.P2128P|KMT2A_ENST00000354520.4_Silent_p.P2087P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2125					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.P2128P(1)|p.P2125P(1)									CAGACCGACCTCCTCATTCAC	0.433																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - coding silent(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(6373-6375)CCT>CCA		myeloid/lymphoid or mixed-lineage leukemia							143.0	142.0	142.0					11																	118372451		2200	4296	6496	SO:0001819	synonymous_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118372451T>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6375T>A	11.37:g.118372451T>A						MLL_uc001ptb.2_Silent_p.P2128P	p.P2125P	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	6398	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2125					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.6375T>A	CCDS31686.1																																																																																				PASS	0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		62	218	62	218	---	---	---	---
PDZD3	79849	broad.mit.edu	37	11	119059796	119059796	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:119059796G>A	ENST00000531114.1	+	8	2117	c.1568G>A	c.(1567-1569)gGa>gAa	p.G523E	PDZD3_ENST00000322712.4_Missense_Mutation_p.G443E|PDZD3_ENST00000392817.2_Missense_Mutation_p.G523E|PDZD3_ENST00000525131.1_Missense_Mutation_p.G444E|PDZD3_ENST00000355547.5_Missense_Mutation_p.G457E			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	523	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)	p.G443E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CCTGTTGGGGGACAGAATGAC	0.622																																						uc001pwb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1567-1569)GGA>GAA		RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;							52.0	52.0	52.0					11																	119059796		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119059796G>A	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.1568G>A	11.37:g.119059796G>A	ENSP00000431164:p.Gly523Glu					PDZD3_uc001pvy.2_Missense_Mutation_p.G443E|PDZD3_uc001pvz.2_Missense_Mutation_p.G457E|PDZD3_uc010rzd.1_Missense_Mutation_p.G444E|PDZD3_uc001pwa.2_Missense_Mutation_p.G153E	p.G523E			Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	8	2092	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	523			PDZ 4.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	1.357	-0.589888	0.03799	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	4.96	3.08	0.35506	PDZ/DHR/GLGF (4);	0.518487	0.19301	N	0.117621	T	0.28001	0.0690	N	0.17248	0.465	0.09310	N	1	B;B;B;B	0.29612	0.073;0.251;0.103;0.204	B;B;B;B	0.30105	0.036;0.067;0.025;0.111	T	0.16217	-1.0410	10	0.59425	D	0.04	-0.3218	4.7614	0.13110	0.193:0.179:0.628:0.0	.	444;523;457;443	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	E	444;523;457;443;457;523	ENSP00000434559:G444E;ENSP00000431164:G523E;ENSP00000347742:G457E;ENSP00000327107:G443E;ENSP00000376564:G523E	ENSP00000327107:G443E	G	+	2	0	PDZD3	118565006	0.347000	0.24853	0.102000	0.21198	0.038000	0.13279	1.585000	0.36600	1.077000	0.40990	-0.291000	0.09656	GGA		PASS	0.622	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		40	45	40	45	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777855	123777855	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:123777855C>T	ENST00000321355.2	+	1	747	c.717C>T	c.(715-717)agC>agT	p.S239S		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S239S(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AAGCGTTTAGCACCTGTAGCT	0.463																																						uc010saa.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(715-717)AGC>AGT		olfactory receptor, family 8, subfamily D,							113.0	113.0	113.0					11																	123777855		2202	4299	6501	SO:0001819	synonymous_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777855C>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.717C>T	11.37:g.123777855C>T							p.S239S	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	717	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	239			Helical; Name=6; (Potential).		Q6IFE9	Silent	SNP	ENST00000321355.2	37	c.717C>T	CCDS31698.1																																																																																				PASS	0.463	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		52	210	52	210	---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124007350	124007350	+	Missense_Mutation	SNP	A	A	T	rs570182951		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:124007350A>T	ENST00000456829.2	+	14	1845	c.1594A>T	c.(1594-1596)Aca>Tca	p.T532S	VWA5A_ENST00000392748.1_Missense_Mutation_p.T532S|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	532								p.T532S(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGATAAGGTGACATTTCCTCT	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		14667	0.0		0.0	False		,,,				2504	0.001					uc001pzu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1594-1596)ACA>TCA		BCSC-1 isoform 1							182.0	157.0	165.0					11																	124007350		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007350A>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1594A>T	11.37:g.124007350A>T	ENSP00000407726:p.Thr532Ser					VWA5A_uc001pzt.2_Missense_Mutation_p.T532S	p.T532S	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			14	1803	+			532					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1594A>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.204331	0.01568	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.03772	3.81;3.81	5.49	0.612	0.17591	.	0.514845	0.22203	N	0.063205	T	0.04137	0.0115	L	0.59912	1.85	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.47812	-0.9088	10	0.06625	T	0.88	-4.4637	5.5232	0.16943	0.5492:0.1776:0.2732:0.0	.	532	O00534	VMA5A_HUMAN	S	532	ENSP00000407726:T532S;ENSP00000376504:T532S	ENSP00000376504:T532S	T	+	1	0	VWA5A	123512560	0.004000	0.15560	0.002000	0.10522	0.040000	0.13550	-0.152000	0.10159	0.080000	0.16959	0.528000	0.53228	ACA		PASS	0.448	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		49	160	49	160	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2743545	2743545	+	Splice_Site	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:2743545A>G	ENST00000347598.4	+	32	4055	c.4055A>G	c.(4054-4056)aAc>aGc	p.N1352S	CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399641.1_Splice_Site_p.N1304S|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399629.1_Splice_Site_p.N1332S|CACNA1C_ENST00000399634.1_Splice_Site_p.N1304S|CACNA1C_ENST00000399606.1_Splice_Site_p.N1324S|CACNA1C_ENST00000335762.5_Splice_Site_p.N1329S|CACNA1C_ENST00000399638.1_Splice_Site_p.N1332S|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399595.1_Splice_Site_p.N1304S|CACNA1C_ENST00000327702.7_Splice_Site_p.N1304S|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399591.1_Splice_Site_p.N1304S|CACNA1C_ENST00000399601.1_Splice_Site_p.N1304S|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399621.1_Splice_Site_p.N1304S|CACNA1C_ENST00000344100.3_Splice_Site_p.N1304S|CACNA1C_ENST00000399655.1_Splice_Site_p.N1304S|CACNA1C_ENST00000399637.1_Splice_Site_p.N1304S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1352					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.N1352S(1)|p.N1304S(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCGAGGTAAACGTAAGTACA	0.463																																						uc009zdu.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)	11						c.(4054-4056)AAC>AGC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						89.0	83.0	85.0					12																	2743545		1996	4159	6155	SO:0001630	splice_region_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2743545A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4056+1A>G	12.37:g.2743545A>G						CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkc.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qke.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkf.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qjz.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkd.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc009zdw.1_Missense_Mutation_p.N1304S|CACNA1C_uc001qkh.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkl.2_Missense_Mutation_p.N1352S|CACNA1C_uc001qkn.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qko.2_Missense_Mutation_p.N1324S|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Missense_Mutation_p.N1332S|CACNA1C_uc001qku.2_Missense_Mutation_p.N1304S|CACNA1C_uc001qkq.2_Missense_Mutation_p.N1332S|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc001qki.1_Intron|CACNA1C_uc001qkj.1_Intron|CACNA1C_uc001qkk.1_Intron|CACNA1C_uc001qkm.1_Missense_Mutation_p.N1040S	p.N1352S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	32	4368	+			1352			Extracellular (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4055A>G	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547405	0.45383	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399638;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399634;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.45	5.45	0.79879	Ion transport (1);	0.393126	0.29059	N	0.013262	D	0.93723	0.7994	N	0.11560	0.145	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;P;B;P;P	0.37370	0.205;0.027;0.127;0.0;0.029;0.003;0.008;0.006;0.127;0.0;0.0;0.002;0.527;0.005;0.592;0.592	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32677	0.133;0.15;0.133;0.0;0.068;0.006;0.006;0.009;0.133;0.002;0.001;0.003;0.129;0.006;0.118;0.118	D	0.93816	0.7114	10	0.30854	T	0.27	.	15.5119	0.75789	1.0:0.0:0.0:0.0	.	1304;1352;1304;1332;1332;1324;1304;1275;1352;1304;1304;1304;1304;1304;1304;1304	Q13936-14;Q13936;Q13936-33;Q13936-32;Q13936-31;Q13936-30;Q13936-23;Q13936-28;Q13936-11;Q13936-25;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1329;1304;1332;1304;1304;1304;1304;1352;1324;1304;1304;1332;1304;1304;1304;1145	ENSP00000336982:N1329S;ENSP00000382563:N1304S;ENSP00000382547:N1332S;ENSP00000382530:N1304S;ENSP00000382546:N1304S;ENSP00000382500:N1304S;ENSP00000382549:N1304S;ENSP00000266376:N1352S;ENSP00000382515:N1324S;ENSP00000382510:N1304S;ENSP00000341092:N1304S;ENSP00000382537:N1332S;ENSP00000329877:N1304S;ENSP00000382542:N1304S;ENSP00000382504:N1304S	ENSP00000323129:N1145S	N	+	2	0	CACNA1C	2613806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.146000	0.94640	2.074000	0.62210	0.533000	0.62120	AAC		PASS	0.463	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	Missense_Mutation	12	6	12	6	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5756937	5756937	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:5756937G>A	ENST00000356134.5	-	17	1650	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	ANO2_ENST00000327087.8_Missense_Mutation_p.R526C|ANO2_ENST00000546188.1_Missense_Mutation_p.R527C|ANO2_ENST00000538154.1_5'UTR	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	531					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R527C(1)|p.R526C(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCTGGGAAACGATCCTTCCAG	0.438																																						uc001qnm.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1576-1578)CGT>TGT		anoctamin 2							98.0	95.0	96.0					12																	5756937		1953	4151	6104	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5756937G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1579C>T	12.37:g.5756937G>A	ENSP00000348453:p.Arg527Cys						p.R526C	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			16	1648	-			531			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1576C>T		.	.	.	.	.	.	.	.	.	.	G	15.74	2.922235	0.52653	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.05	5.05	0.67936	.	0.187442	0.46442	D	0.000288	T	0.79161	0.4399	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.82396	-0.0478	10	0.87932	D	0	.	14.2892	0.66265	0.0:0.0:1.0:0.0	.	526	Q9NQ90-3	.	C	526;527;527;531;86	ENSP00000314048:R526C;ENSP00000348453:R527C;ENSP00000440981:R527C;ENSP00000443813:R86C	ENSP00000314048:R526C	R	-	1	0	ANO2	5627198	1.000000	0.71417	0.986000	0.45419	0.132000	0.20833	4.539000	0.60657	2.531000	0.85337	0.591000	0.81541	CGT		PASS	0.438	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		4	40	4	40	---	---	---	---
GAPDH	2597	broad.mit.edu	37	12	6646779	6646779	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:6646779G>T	ENST00000229239.5	+	8	1221	c.555G>T	c.(553-555)caG>caT	p.Q185H	GAPDH_ENST00000396859.1_Missense_Mutation_p.Q185H|GAPDH_ENST00000396858.1_Missense_Mutation_p.Q143H|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Missense_Mutation_p.Q185H|GAPDH_ENST00000396856.1_Missense_Mutation_p.Q110H	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	185					carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)	p.Q185H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CTGCCACCCAGAAGACTGTGG	0.622											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qop.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)CAG>CAT		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						31.0	34.0	33.0					12																	6646779		2203	4299	6502	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646779G>T	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.555G>T	12.37:g.6646779G>T	ENSP00000229239:p.Gln185His		OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	635	GAPDH_uc009zep.1_Missense_Mutation_p.Q143H|GAPDH_uc001qoq.1_Missense_Mutation_p.Q110H|GAPDH_uc001qor.1_Missense_Mutation_p.Q144H|GAPDH_uc001qos.1_Missense_Mutation_p.Q185H|GAPDH_uc001qot.1_Missense_Mutation_p.Q185H|GAPDH_uc001qou.1_Missense_Mutation_p.Q144H|GAPDH_uc001qov.1_Missense_Mutation_p.Q143H|GAPDH_uc001qow.1_Missense_Mutation_p.Q138H|GAPDH_uc001qox.1_Missense_Mutation_p.Q11H	p.Q185H	NM_002046	NP_002037	P04406	G3P_HUMAN			8	657	+			185					E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.555G>T	CCDS8549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.831261|4.831261	0.91036|0.91036	.|.	.|.	ENSG00000111640|ENSG00000111640	ENST00000450282|ENST00000229239;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	.|T;T;T;T;T	.|0.72167	.|-0.63;-0.63;-0.63;-0.63;-0.63	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.91838	.|0.7417	H|H	0.99746|0.99746	4.745|4.745	0.48395|0.48395	D|D	0.99964|0.99964	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.83275	.|0.929;0.937;0.929;0.996;0.984	.|D	.|0.95870	.|0.8890	.|10	.|0.87932	.|D	.|0	.|.	18.046|18.046	0.89332|0.89332	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|143;160;185;110;185	.|E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.|.;.;.;.;G3P_HUMAN	.|H	-1|185;110;185;185;143	.|ENSP00000229239:Q185H;ENSP00000380065:Q110H;ENSP00000380070:Q185H;ENSP00000380068:Q185H;ENSP00000380067:Q143H	.|ENSP00000229239:Q185H	.|Q	+|+	.|3	.|2	GAPDH|GAPDH	6517040|6517040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.673000|9.673000	0.98631|0.98631	2.261000|2.261000	0.74972|0.74972	0.561000|0.561000	0.74099|0.74099	.|CAG		PASS	0.622	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		28	63	28	63	---	---	---	---
CLEC4A	50856	broad.mit.edu	37	12	8278191	8278191	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:8278191T>G	ENST00000229332.5	+	2	364	c.117T>G	c.(115-117)aaT>aaG	p.N39K	CLEC4A_ENST00000360500.3_Intron|CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000352620.3_Missense_Mutation_p.N39K	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	39					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.N39K(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ACAAAAGTAATACCGGATTCC	0.403																																						uc001qtz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)AAT>AAG		C-type lectin domain family 4, member A isoform							169.0	142.0	151.0					12																	8278191		2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8278191T>G	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.117T>G	12.37:g.8278191T>G	ENSP00000229332:p.Asn39Lys					CLEC4A_uc009zga.1_Intron|CLEC4A_uc001qub.1_Missense_Mutation_p.N39K|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Missense_Mutation_p.N39K	p.N39K	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	2	364	+			39			Cytoplasmic (Potential).		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.117T>G	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	T	6.478	0.456427	0.12283	.	.	ENSG00000111729	ENST00000229332;ENST00000352620;ENST00000546339	T;T;T	0.61859	5.51;5.33;0.07	3.89	-0.849	0.10723	.	.	.	.	.	T	0.36744	0.0978	N	0.19112	0.55	0.09310	N	1	B;B	0.23377	0.084;0.02	B;B	0.22601	0.04;0.009	T	0.21314	-1.0249	9	0.24483	T	0.36	.	7.6565	0.28379	0.0:0.5882:0.0:0.4118	.	39;39	Q9UMR7-2;Q9UMR7	.;CLC4A_HUMAN	K	39;39;28	ENSP00000229332:N39K;ENSP00000247243:N39K;ENSP00000443082:N28K	ENSP00000229332:N39K	N	+	3	2	CLEC4A	8169458	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.374000	0.07484	-0.136000	0.11475	0.533000	0.62120	AAT		PASS	0.403	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		31	141	31	141	---	---	---	---
TAS2R31	259290	broad.mit.edu	37	12	11183143	11183143	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:11183143G>A	ENST00000390675.2	-	1	863	c.792C>T	c.(790-792)tgC>tgT	p.C264C	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	264					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.C264C(1)		kidney(1)|lung(6)	7						TAATAGCTTTGCAGAACATGA	0.393																																						uc001qzo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(790-792)TGC>TGT		taste receptor, type 2, member 31							203.0	209.0	207.0					12																	11183143		2096	4260	6356	SO:0001819	synonymous_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183143G>A	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.792C>T	12.37:g.11183143G>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.C264C	NM_176885	NP_795366	P59538	T2R31_HUMAN			1	864	-			264			Helical; Name=7; (Potential).		P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	c.792C>T	CCDS53747.1																																																																																				PASS	0.393	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		82	437	82	437	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49435239	49435239	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:49435239C>T	ENST00000301067.7	-	31	6313	c.6314G>A	c.(6313-6315)cGc>cAc	p.R2105H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2105					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R1835H(2)|p.R2105H(2)									CGGGGGAATGCGGAGATGTAG	0.652																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		4	Substitution - Missense(4)		lung(4)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6313-6315)CGC>CAC		myeloid/lymphoid or mixed-lineage leukemia 2							39.0	44.0	42.0					12																	49435239		1973	4148	6121	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49435239C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6314G>A	12.37:g.49435239C>T	ENSP00000301067:p.Arg2105His	HNSCC(34;0.089)					p.R2105H	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6314	-			2105					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6314G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371352	0.24771	.	.	ENSG00000167548	ENST00000301067	T	0.80033	-1.33	4.14	4.14	0.48551	.	0.000000	0.33364	N	0.004996	T	0.71796	0.3382	N	0.08118	0	0.33483	D	0.587692	D	0.71674	0.998	P	0.54270	0.747	T	0.79448	-0.1799	10	0.87932	D	0	.	9.9782	0.41797	0.0:0.9031:0.0:0.0969	.	2105	O14686	MLL2_HUMAN	H	2105	ENSP00000301067:R2105H	ENSP00000301067:R2105H	R	-	2	0	MLL2	47721506	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.316000	0.59178	2.599000	0.87857	0.561000	0.74099	CGC		PASS	0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	82	4	82	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56082084	56082084	+	Splice_Site	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:56082084C>T	ENST00000555728.1	-	24	3119	c.3091G>A	c.(3091-3093)Gag>Aag	p.E1031K	ITGA7_ENST00000257880.7_Splice_Site_p.E1031K|ITGA7_ENST00000347027.6_Splice_Site_p.E981K|ITGA7_ENST00000553804.1_Splice_Site_p.E991K|ITGA7_ENST00000394230.2_Splice_Site_p.E991K|ITGA7_ENST00000394229.2_Splice_Site_p.E987K|ITGA7_ENST00000452168.2_Splice_Site_p.E894K|ITGA7_ENST00000257879.6_Splice_Site_p.E987K			Q13683	ITA7_HUMAN	integrin, alpha 7	1031					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.E987K(1)|p.E991K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTGAGTACTCCTAAGGGAAC	0.502																																						uc001shh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2971-2973)GAG>AAG		integrin alpha 7 isoform 1 precursor							96.0	88.0	91.0					12																	56082084		2203	4300	6503	SO:0001630	splice_region_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56082084C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3091-1G>A	12.37:g.56082084C>T						ITGA7_uc001shg.2_Missense_Mutation_p.E987K|ITGA7_uc010sps.1_Missense_Mutation_p.E894K|ITGA7_uc001shf.2_5'Flank|ITGA7_uc009znw.2_Missense_Mutation_p.E234K|ITGA7_uc009znx.2_Missense_Mutation_p.E868K	p.E991K	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			23	3191	-			1031			Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.2971G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.423800	0.83667	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557555	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.06	5.06	0.68205	.	0.373560	0.25425	N	0.030777	T	0.60170	0.2248	L	0.46157	1.445	0.53688	D	0.999978	P;D;D;P	0.58970	0.949;0.984;0.97;0.944	P;P;D;P	0.63283	0.875;0.811;0.913;0.678	T	0.60115	-0.7326	10	0.49607	T	0.09	.	15.9674	0.79985	0.0:1.0:0.0:0.0	.	894;1031;991;1050	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	K	991;987;981;894;1031;991;987;860;1031;17	ENSP00000452120:E991K;ENSP00000257879:E987K;ENSP00000343009:E981K;ENSP00000393844:E894K;ENSP00000257880:E1031K;ENSP00000377777:E991K;ENSP00000377776:E987K;ENSP00000452387:E1031K	ENSP00000257879:E987K	E	-	1	0	ITGA7	54368351	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	5.160000	0.64929	2.357000	0.79964	0.573000	0.79308	GAG		PASS	0.502	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	Missense_Mutation	18	74	18	74	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78513143	78513143	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:78513143T>G	ENST00000397909.2	+	15	3340	c.3167T>G	c.(3166-3168)aTt>aGt	p.I1056S	NAV3_ENST00000536525.2_Missense_Mutation_p.I1056S|NAV3_ENST00000266692.7_Missense_Mutation_p.I1056S|NAV3_ENST00000228327.6_Missense_Mutation_p.I1056S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1056	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.I1056S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCTCAGGCATTGGAAGATCG	0.488										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3166-3168)ATT>AGT		neuron navigator 3							76.0	77.0	76.0					12																	78513143		1910	4119	6029	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513143T>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3167T>G	12.37:g.78513143T>G	ENSP00000381007:p.Ile1056Ser	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.I1056S|NAV3_uc010sub.1_Missense_Mutation_p.I556S|NAV3_uc009zsf.2_Missense_Mutation_p.I64S	p.I1056S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3340	+			1056			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3167T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.95|10.95	1.496163|1.496163	0.26861|0.26861	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T	.|0.39056	.|1.1;1.1;1.1;1.1	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.40385	.|U	.|0.001103	T|T	0.48484|0.48484	0.1502|0.1502	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;D;D;D	.|0.76494	.|0.123;0.999;0.999;0.963	.|B;D;D;P	.|0.71184	.|0.041;0.972;0.926;0.678	T|T	0.36939|0.36939	-0.9727|-0.9727	5|10	.|0.02654	.|T	.|1	-18.1717|-18.1717	16.1673|16.1673	0.81777|0.81777	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1056;1056;1056;1056	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	Q|S	127|1056	.|ENSP00000446132:I1056S;ENSP00000381007:I1056S;ENSP00000228327:I1056S;ENSP00000266692:I1056S	.|ENSP00000228327:I1056S	H|I	+|+	3|2	2|0	NAV3|NAV3	77037274|77037274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	7.806000|7.806000	0.86020|0.86020	2.207000|2.207000	0.71202|0.71202	0.533000|0.533000	0.62120|0.62120	CAT|ATT		PASS	0.488	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		27	172	27	172	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81112734	81112734	+	Silent	SNP	C	C	A	rs533956404	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:81112734C>A	ENST00000228644.3	+	3	824	c.672C>A	c.(670-672)ctC>ctA	p.L224L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	224					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.L224L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGTTGCCTCTCCAGGATCTGG	0.493																																						uc001szg.2																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	ovary(1)	1						c.(670-672)CTC>CTA		myogenic factor 5							105.0	100.0	102.0					12																	81112734		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112734C>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.672C>A	12.37:g.81112734C>A							p.L224L	NM_005593	NP_005584	P13349	MYF5_HUMAN			3	807	+			224					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.672C>A	CCDS9020.1																																																																																				PASS	0.493	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		39	137	39	137	---	---	---	---
METTL25	84190	broad.mit.edu	37	12	82793073	82793073	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:82793073G>A	ENST00000248306.3	+	4	1100	c.1031G>A	c.(1030-1032)aGa>aAa	p.R344K	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	344							methyltransferase activity (GO:0008168)	p.R344K(1)									AAAGAGAGAAGAAAAATGACA	0.338																																						uc001szq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)AGA>AAA		hypothetical protein LOC84190							55.0	56.0	56.0					12																	82793073		2203	4295	6498	SO:0001583	missense	84190							g.chr12:82793073G>A	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1031G>A	12.37:g.82793073G>A	ENSP00000248306:p.Arg344Lys						p.R344K	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			4	1052	+			344					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.1031G>A	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990062	0.35131	.	.	ENSG00000127720	ENST00000248306	T	0.29917	1.55	5.27	3.2	0.36748	.	0.367803	0.32753	N	0.005699	T	0.24353	0.0590	L	0.49126	1.545	0.41683	D	0.989304	B	0.14438	0.01	B	0.20955	0.032	T	0.08186	-1.0734	10	0.05833	T	0.94	-4.0884	12.5221	0.56065	0.1489:0.0:0.8511:0.0	.	344	Q8N6Q8	CL026_HUMAN	K	344	ENSP00000248306:R344K	ENSP00000248306:R344K	R	+	2	0	C12orf26	81317204	1.000000	0.71417	0.996000	0.52242	0.706000	0.40770	4.251000	0.58778	1.207000	0.43291	0.580000	0.79431	AGA		PASS	0.338	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		35	63	35	63	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100796511	100796511	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:100796511T>G	ENST00000323346.5	+	8	1354	c.1041T>G	c.(1039-1041)ttT>ttG	p.F347L	SLC17A8_ENST00000392989.3_Intron|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	347					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.F347L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCTTTGGATTTGCAATAAGTA	0.328																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1039-1041)TTT>TTG		solute carrier family 17 (sodium-dependent							75.0	68.0	70.0					12																	100796511		2202	4300	6502	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100796511T>G	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1041T>G	12.37:g.100796511T>G	ENSP00000316909:p.Phe347Leu					SLC17A8_uc009ztx.2_Intron	p.F347L	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			8	1354	+			347			Vesicular (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1041T>G	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143055	0.77888	.	.	ENSG00000179520	ENST00000323346	T	0.56776	0.44	5.94	5.94	0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	L	0.49256	1.55	0.80722	D	1	B	0.27910	0.193	B	0.37091	0.241	T	0.54925	-0.8220	10	0.52906	T	0.07	.	16.3908	0.83537	0.0:0.0:0.0:1.0	.	347	Q8NDX2	VGLU3_HUMAN	L	347	ENSP00000316909:F347L	ENSP00000316909:F347L	F	+	3	2	SLC17A8	99320642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.740000	0.55082	2.269000	0.75478	0.455000	0.32223	TTT		PASS	0.328	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		21	88	21	88	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119583429	119583429	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr12:119583429C>A	ENST00000267260.4	+	9	1403	c.1015C>A	c.(1015-1017)Ccc>Acc	p.P339T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	339	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.P339T(2)|p.P436T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CACCTCCTCACCCCAGAACAA	0.627																																						uc001txa.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1015-1017)CCC>ACC		KIAA1853 protein							28.0	34.0	32.0					12																	119583429		2005	4177	6182	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583429C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1015C>A	12.37:g.119583429C>A	ENSP00000267260:p.Pro339Thr						p.P339T	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			9	1307	+			339			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1015C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230765	0.58777	.	.	ENSG00000139767	ENST00000267260	T	0.22336	1.96	4.98	3.83	0.44106	.	0.111734	0.64402	D	0.000007	T	0.15739	0.0379	L	0.44542	1.39	0.33481	D	0.587502	P	0.43938	0.822	B	0.41510	0.359	T	0.11036	-1.0604	9	.	.	.	-29.3171	4.154	0.10251	0.0:0.7319:0.0:0.2681	.	339	A7MD48	SRRM4_HUMAN	T	339	ENSP00000267260:P339T	.	P	+	1	0	SRRM4	118067812	0.998000	0.40836	0.956000	0.39512	0.988000	0.76386	3.479000	0.53165	2.460000	0.83146	0.655000	0.94253	CCC		PASS	0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		6	25	6	25	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32705840	32705840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr13:32705840G>T	ENST00000380250.3	+	8	1244	c.748G>T	c.(748-750)Gag>Tag	p.E250*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	250						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E250*(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTTATGGCGGAGCTAAAAGA	0.388																																						uc001utx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(748-750)GAG>TAG		furry homolog							101.0	93.0	95.0					13																	32705840		1820	4082	5902	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32705840G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.748G>T	13.37:g.32705840G>T	ENSP00000369600:p.Glu250*					FRY_uc010tdw.1_RNA	p.E250*	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	8	1244	+		Lung SC(185;0.0271)	250					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.748G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	43	10.516179	0.99419	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	.	.	.	X	250;178	.	ENSP00000267067:E178X	E	+	1	0	FRY	31603840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.696000	0.92011	0.650000	0.86243	GAG		PASS	0.388	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		50	52	50	52	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36521584	36521584	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr13:36521584A>G	ENST00000360631.3	-	4	945	c.734T>C	c.(733-735)cTt>cCt	p.L245P	DCLK1_ENST00000379892.4_Missense_Mutation_p.L245P|DCLK1_ENST00000255448.4_Missense_Mutation_p.L245P			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	245	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.L245P(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AAAGTCCTGAAGGCACATCAC	0.443																																						uc001uvf.2																			2	Substitution - Missense(2)		lung(2)	stomach(6)|ovary(2)|skin(1)	9						c.(733-735)CTT>CCT		doublecortin-like kinase 1							82.0	75.0	78.0					13																	36521584		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36521584A>G	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.734T>C	13.37:g.36521584A>G	ENSP00000353846:p.Leu245Pro						p.L245P	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	4	967	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	245			Doublecortin 2.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.734T>C		.	.	.	.	.	.	.	.	.	.	A	18.79	3.698725	0.68501	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.95069	-3.6;-3.6;-3.6	5.8	5.8	0.92144	.	0.067101	0.64402	D	0.000008	D	0.97810	0.9281	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98781	1.0732	10	0.87932	D	0	.	16.1477	0.81583	1.0:0.0:0.0:0.0	.	245	O15075-2	.	P	245	ENSP00000255448:L245P;ENSP00000353846:L245P;ENSP00000369222:L245P	ENSP00000255448:L245P	L	-	2	0	DCLK1	35419584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.014000	0.88676	2.226000	0.72624	0.523000	0.50628	CTT		PASS	0.443	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		13	59	13	59	---	---	---	---
RCBTB2	1102	broad.mit.edu	37	13	49084844	49084844	+	Missense_Mutation	SNP	C	C	T	rs560160674		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr13:49084844C>T	ENST00000344532.3	-	10	1270	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	RCBTB2_ENST00000430805.2_Missense_Mutation_p.A288T|RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000544492.1_Intron	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	283					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.A283T(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TAAGAATTGGCGCCCCAAGCA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		17160	0.0		0.001	False		,,,				2504	0.0					uc001vch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(847-849)GCC>ACC		regulator of chromosome condensation and BTB							104.0	98.0	100.0					13																	49084844		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49084844C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.847G>A	13.37:g.49084844C>T	ENSP00000345144:p.Ala283Thr					RCBTB2_uc010tgg.1_Missense_Mutation_p.A288T|RCBTB2_uc001vci.2_Missense_Mutation_p.A259T|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron	p.A283T	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	10	1218	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	283			RCC1 5.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.847G>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676856	0.88445	.	.	ENSG00000136161	ENST00000344532;ENST00000452987;ENST00000430805	D;D	0.85171	-1.95;-1.95	5.81	4.07	0.47477	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.044963	0.85682	N	0.000000	D	0.89312	0.6679	M	0.66560	2.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.956	D	0.86031	0.1513	10	0.22706	T	0.39	.	10.8761	0.46913	0.1312:0.8016:0.0:0.0672	.	288;283	B4DWG0;O95199	.;RCBT2_HUMAN	T	283;288;288	ENSP00000345144:A283T;ENSP00000389910:A288T	ENSP00000345144:A283T	A	-	1	0	RCBTB2	47982845	1.000000	0.71417	0.739000	0.30968	0.988000	0.76386	4.688000	0.61715	0.786000	0.33708	0.655000	0.94253	GCC		PASS	0.473	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		4	141	4	141	---	---	---	---
TUBGCP3	10426	broad.mit.edu	37	13	113158371	113158371	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr13:113158371C>A	ENST00000261965.3	-	19	2468	c.2282G>T	c.(2281-2283)cGc>cTc	p.R761L	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R761L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	761					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R761L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAGCAGGCAGCGGGAGATGAT	0.488																																						uc001vse.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2281-2283)CGC>CTC		tubulin, gamma complex associated protein 3							114.0	101.0	106.0					13																	113158371		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113158371C>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2282G>T	13.37:g.113158371C>A	ENSP00000261965:p.Arg761Leu					TUBGCP3_uc010tjq.1_Missense_Mutation_p.R751L|TUBGCP3_uc001vsf.2_Missense_Mutation_p.R761L	p.R761L	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			19	2469	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		761					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.2282G>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471775	0.84533	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.06933	3.24;3.24	5.04	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	M	0.70595	2.14	0.58432	D	0.999998	D;P;D	0.76494	0.999;0.592;0.999	D;B;D	0.71870	0.975;0.392;0.975	T	0.00492	-1.1707	10	0.45353	T	0.12	-28.5577	12.9026	0.58133	0.0:0.9218:0.0:0.0782	.	751;761;761	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	L	761	ENSP00000261965:R761L;ENSP00000364821:R761L	ENSP00000261965:R761L	R	-	2	0	TUBGCP3	112206372	1.000000	0.71417	0.970000	0.41538	0.979000	0.70002	5.437000	0.66544	2.351000	0.79841	0.585000	0.79938	CGC		PASS	0.488	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		37	85	37	85	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553558	19553558	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:19553558G>A	ENST00000409832.3	+	1	194	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	48								p.D48N(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTTCTGGAGACCACGACGA	0.602																																						uc001vuz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(142-144)GAC>AAC		POTE ankyrin domain family, member G							65.0	91.0	82.0					14																	19553558		1749	3583	5332	SO:0001583	missense	404785							g.chr14:19553558G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.142G>A	14.37:g.19553558G>A	ENSP00000386971:p.Asp48Asn					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.D48N	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	194	+			48					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.142G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	11.18	1.564074	0.27915	.	.	ENSG00000222036	ENST00000409832	T	0.39997	1.05	.	.	.	.	.	.	.	.	T	0.50565	0.1623	L	0.43152	1.355	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.36187	-0.9758	7	0.87932	D	0	.	.	.	.	.	48	Q6S5H5	POTEG_HUMAN	N	48	ENSP00000386971:D48N	ENSP00000386971:D48N	D	+	1	0	POTEG	18623558	0.001000	0.12720	0.026000	0.17262	0.026000	0.11368	-0.334000	0.07883	0.162000	0.19483	0.165000	0.16767	GAC		PASS	0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		18	503	18	503	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174229	63174229	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:63174229A>T	ENST00000322893.7	-	11	3232	c.2964T>A	c.(2962-2964)ttT>ttA	p.F988L		NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	988					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.F988L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		atatatatTAAAAGTGGATTT	0.308																																						uc001xfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(2962-2964)TTT>TTA		potassium voltage-gated channel, subfamily H,							28.0	34.0	32.0					14																	63174229		2150	4280	6430	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174229A>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2964T>A	14.37:g.63174229A>T	ENSP00000321427:p.Phe988Leu					KCNH5_uc001xfy.2_3'UTR	p.F988L	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3015	-			988			Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.2964T>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.522663	0.44866	.	.	ENSG00000140015	ENST00000322893	D	0.98762	-5.12	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000003	D	0.93976	0.8071	N	0.02011	-0.69	0.80722	D	1	B	0.19583	0.037	B	0.12837	0.008	D	0.91006	0.4846	10	0.87932	D	0	.	15.7296	0.77790	1.0:0.0:0.0:0.0	.	988	Q8NCM2	KCNH5_HUMAN	L	988	ENSP00000321427:F988L	ENSP00000321427:F988L	F	-	3	2	KCNH5	62243982	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.279000	0.58953	2.178000	0.69098	0.448000	0.29417	TTT		PASS	0.308	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		18	56	18	56	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68275998	68275998	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:68275998G>T	ENST00000347230.4	-	4	420	c.282C>A	c.(280-282)ctC>ctA	p.L94L	ZFYVE26_ENST00000555452.1_Silent_p.L94L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	94					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L94L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAACAACTGGGAGTAACTTCT	0.358																																						uc001xka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)	11						c.(280-282)CTC>CTA		zinc finger, FYVE domain containing 26							71.0	73.0	72.0					14																	68275998		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68275998G>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.282C>A	14.37:g.68275998G>T						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L94L|ZFYVE26_uc010tta.1_Silent_p.L94L	p.L94L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	4	421	-			94					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.282C>A	CCDS9788.1																																																																																				PASS	0.358	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		32	110	32	110	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73442325	73442325	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:73442325C>T	ENST00000556143.1	-	9	2460	c.1740G>A	c.(1738-1740)aaG>aaA	p.K580K	ZFYVE1_ENST00000555072.1_Silent_p.K165K|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Silent_p.K580K|ZFYVE1_ENST00000394207.2_Silent_p.K165K|ZFYVE1_ENST00000318876.5_Silent_p.K566K	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	580					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.K580K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAGTCACAGCCTTGGTGGGTC	0.587																																						uc001xnm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1738-1740)AAG>AAA		zinc finger, FYVE domain containing 1 isoform 1							123.0	102.0	109.0					14																	73442325		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73442325C>T	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1740G>A	14.37:g.73442325C>T						ZFYVE1_uc001xnl.2_Silent_p.K165K|ZFYVE1_uc010arj.2_Silent_p.K566K	p.K580K	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	9	2380	-		all_lung(585;1.33e-09)	580					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.1740G>A	CCDS9811.1																																																																																				PASS	0.587	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		21	69	21	69	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73442367	73442367	+	Silent	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:73442367G>A	ENST00000556143.1	-	9	2418	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	ZFYVE1_ENST00000555072.1_Silent_p.F151F|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000553891.1_Silent_p.F566F|ZFYVE1_ENST00000394207.2_Silent_p.F151F|ZFYVE1_ENST00000318876.5_Silent_p.F552F	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	566					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.F566F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		ACTGAGCCATGAAGTTCATCC	0.557																																						uc001xnm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1696-1698)TTC>TTT		zinc finger, FYVE domain containing 1 isoform 1							127.0	102.0	110.0					14																	73442367		2203	4300	6503	SO:0001819	synonymous_variant	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73442367G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1698C>T	14.37:g.73442367G>A						ZFYVE1_uc001xnl.2_Silent_p.F151F|ZFYVE1_uc010arj.2_Silent_p.F552F	p.F566F	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	9	2338	-		all_lung(585;1.33e-09)	566					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Silent	SNP	ENST00000556143.1	37	c.1698C>T	CCDS9811.1																																																																																				PASS	0.557	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		17	71	17	71	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89181371	89181371	+	Silent	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:89181371A>G	ENST00000380664.5	-	9	1355	c.1356T>C	c.(1354-1356)agT>agC	p.S452S	EML5_ENST00000554922.1_Silent_p.S452S|EML5_ENST00000352093.5_Silent_p.S452S			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	452						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.S452S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGTGATGAAACTAAGGGATC	0.393																																						uc001xxg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1354-1356)AGT>AGC		echinoderm microtubule associated protein like							90.0	88.0	89.0					14																	89181371		1877	4104	5981	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89181371A>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1356T>C	14.37:g.89181371A>G						EML5_uc001xxh.1_5'UTR	p.S452S	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			10	1542	-			452			WD 9.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.1356T>C	CCDS45148.1																																																																																				PASS	0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			23	65	23	65	---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91766287	91766287	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:91766287G>A	ENST00000389857.6	-	21	3849	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1255					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.R1255W(3)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCTCGCCCCGCAGCCTCTGG	0.637																																						uc010aty.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(3)	3						c.(3763-3765)CGG>TGG		DVL-binding protein DAPLE							14.0	17.0	16.0					14																	91766287		2045	4191	6236	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91766287G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3763C>T	14.37:g.91766287G>A	ENSP00000374507:p.Arg1255Trp						p.R1255W	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			21	3862	-		all_cancers(154;0.0468)	1255			Potential.		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3763C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614099	0.66672	.	.	ENSG00000015133	ENST00000389857	T	0.15834	2.39	5.24	4.29	0.51040	.	0.147892	0.29205	U	0.012834	T	0.29093	0.0723	M	0.77103	2.36	0.80722	D	1	D	0.65815	0.995	P	0.48571	0.582	T	0.09684	-1.0663	10	0.66056	D	0.02	-25.8187	12.8795	0.58010	0.0:0.0:0.713:0.2869	.	1255	Q9P219	DAPLE_HUMAN	W	1255	ENSP00000374507:R1255W	ENSP00000374507:R1255W	R	-	1	2	CCDC88C	90836040	1.000000	0.71417	0.998000	0.56505	0.691000	0.40173	4.012000	0.57131	2.596000	0.87737	0.549000	0.68633	CGG		PASS	0.637	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		3	4	3	4	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92792310	92792310	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:92792310T>A	ENST00000532405.1	+	2	455	c.229T>A	c.(229-231)Tgc>Agc	p.C77S	SLC24A4_ENST00000298877.1_Missense_Mutation_p.C60S|SLC24A4_ENST00000351924.5_Missense_Mutation_p.C60S|SLC24A4_ENST00000393265.2_Missense_Mutation_p.C13S|SLC24A4_ENST00000531433.1_Missense_Mutation_p.C77S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	77					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.C60S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AGCCAAGAACTGCACAGATCC	0.502																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(178-180)TGC>AGC		solute carrier family 24 member 4 isoform 1							93.0	87.0	89.0					14																	92792310		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92792310T>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.229T>A	14.37:g.92792310T>A	ENSP00000431840:p.Cys77Ser					SLC24A4_uc001yai.2_Missense_Mutation_p.C13S|SLC24A4_uc010twm.1_Missense_Mutation_p.C77S|SLC24A4_uc001yaj.2_Missense_Mutation_p.C60S	p.C60S	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	2	202	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	77			Extracellular (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.178T>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122548	0.37436	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.71817	-0.6;-0.05;-0.06;-0.49;-0.47	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	L	0.43152	1.355	0.53005	D	0.999964	P;P	0.46457	0.878;0.793	P;B	0.47402	0.546;0.269	T	0.68823	-0.5307	10	0.38643	T	0.18	.	13.5076	0.61493	0.0:0.0:0.0:1.0	.	77;77	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	S	13;77;77;60;60	ENSP00000376948:C13S;ENSP00000433302:C77S;ENSP00000431840:C77S;ENSP00000298877:C60S;ENSP00000337789:C60S	ENSP00000298877:C60S	C	+	1	0	SLC24A4	91862063	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.316000	0.59178	2.179000	0.69175	0.459000	0.35465	TGC		PASS	0.502	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		13	33	13	33	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94067100	94067100	+	Silent	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:94067100A>G	ENST00000393151.2	+	25	3558	c.3558A>G	c.(3556-3558)gaA>gaG	p.E1186E	UNC79_ENST00000553484.1_Silent_p.E1186E|UNC79_ENST00000555664.1_Silent_p.E1186E|UNC79_ENST00000256339.4_Silent_p.E1009E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1186					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1009E(1)|p.E1186E(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTAACAAGGAATTTCCTTTTC	0.408																																						uc001ybv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(3025-3027)GAA>GAG		hypothetical protein LOC57578							89.0	86.0	87.0					14																	94067100		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94067100A>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3558A>G	14.37:g.94067100A>G						KIAA1409_uc001ybs.1_Silent_p.E1009E	p.E1009E	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	22	3110	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1186					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.3027A>G																																																																																					PASS	0.408	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		23	79	23	79	---	---	---	---
TCL6	27004	broad.mit.edu	37	14	96135927	96135927	+	RNA	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:96135927A>T	ENST00000467865.1	+	0	1861				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)									p.R19S(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		attcaaggagaggggaccatg	0.473			T	TRA@	T-ALL																																	uc001yeq.2				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		1	Substitution - Missense(1)		lung(1)		0						c.(229-231)AGA>AGT		SubName: Full=T-cell leukemia/lymphoma 6 ORF163;							113.0	93.0	100.0					14																	96135927		2203	4300	6503			27004							g.chr14:96135927A>T	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96135927A>T						TCL6_uc001yep.1_RNA|TCL6_uc001yes.2_3'UTR|TCL6_uc001yet.1_Missense_Mutation_p.R19S|TCL6_uc001yeu.2_3'UTR|TCL6_uc001yev.2_3'UTR|TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_Intron|TCL6_uc010avk.1_5'Flank	p.R77S	NM_020554	NP_065579				Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	5	1700	+		all_cancers(154;0.103)							Missense_Mutation	SNP	ENST00000467865.1	37	c.231A>T																																																																																					PASS	0.473	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		19	65	19	65	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96794853	96794853	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:96794853C>A	ENST00000359933.4	-	14	2887	c.1994G>T	c.(1993-1995)aGt>aTt	p.S665I		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	665					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.S665I(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGAACTGAACTAAGTCTTGC	0.313																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(1993-1995)AGT>ATT		ATG2 autophagy related 2 homolog B							119.0	105.0	110.0					14																	96794853		1831	4087	5918	SO:0001583	missense	55102							g.chr14:96794853C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1994G>T	14.37:g.96794853C>A	ENSP00000353010:p.Ser665Ile						p.S665I	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	14	2359	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	665					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.1994G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384228	0.42308	.	.	ENSG00000066739	ENST00000359933	T	0.10573	2.86	5.7	4.79	0.61399	.	0.060405	0.64402	U	0.000005	T	0.12732	0.0309	L	0.57536	1.79	0.45427	D	0.998404	B	0.27700	0.186	B	0.29077	0.098	T	0.03739	-1.1008	10	0.40728	T	0.16	.	9.9534	0.41653	0.0:0.7886:0.1398:0.0717	.	665	Q96BY7	ATG2B_HUMAN	I	665	ENSP00000353010:S665I	ENSP00000353010:S665I	S	-	2	0	ATG2B	95864606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.887000	0.56197	1.374000	0.46228	0.591000	0.81541	AGT		PASS	0.313	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		24	85	24	85	---	---	---	---
IGHV4-31	28396	broad.mit.edu	37	14	106805485	106805485	+	RNA	SNP	C	C	T	rs113376532	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr14:106805485C>T	ENST00000438142.2	-	0	149									immunoglobulin heavy variable 4-31																		GTCCTGGGCCCGACTCCTGCA	0.607																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							59.0	83.0	75.0					14																	106805485		1912	4122	6034			8755							g.chr14:106805485C>T	L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805485C>T						uc001ysw.1_5'Flank								360		-									RNA	SNP	ENST00000438142.2	37	c.13723G>A																																																																																					PASS	0.607	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325194.1	NG_001019		11	253	11	253	---	---	---	---
TMEM62	80021	broad.mit.edu	37	15	43427721	43427721	+	Missense_Mutation	SNP	G	G	C	rs190045614		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr15:43427721G>C	ENST00000260403.2	+	3	583	c.304G>C	c.(304-306)Gat>Cat	p.D102H		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	102						integral component of membrane (GO:0016021)		p.D102H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGACCTGACAGATGCCAAAAC	0.408																																						uc001zqr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(304-306)GAT>CAT		transmembrane protein 62							80.0	74.0	76.0					15																	43427721		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43427721G>C	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.304G>C	15.37:g.43427721G>C	ENSP00000260403:p.Asp102His					TMEM62_uc010bda.2_5'UTR	p.D102H	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	3	583	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	102					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.304G>C	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625338	0.87560	.	.	ENSG00000137842	ENST00000260403	D	0.81659	-1.52	4.85	4.85	0.62838	.	0.123425	0.56097	D	0.000023	D	0.91202	0.7228	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92527	0.6030	10	0.59425	D	0.04	-11.2617	15.9095	0.79461	0.0:0.0:1.0:0.0	.	102	Q0P6H9	TMM62_HUMAN	H	102	ENSP00000260403:D102H	ENSP00000260403:D102H	D	+	1	0	TMEM62	41215013	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.987000	0.93497	2.502000	0.84385	0.563000	0.77884	GAT		PASS	0.408	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		22	26	22	26	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63929830	63929830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr15:63929830G>A	ENST00000443617.2	-	64	12193	c.12106C>T	c.(12106-12108)Cag>Tag	p.Q4036*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4036					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.Q4036*(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						GTACAATTCTGACCACAAATG	0.363																																						uc002amp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(12106-12108)CAG>TAG		hect domain and RCC1-like domain 1							52.0	45.0	47.0					15																	63929830		1823	4011	5834	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63929830G>A	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.12106C>T	15.37:g.63929830G>A	ENSP00000390158:p.Gln4036*						p.Q4036*	NM_003922	NP_003913	Q15751	HERC1_HUMAN			64	12254	-			4036			RCC1 8.		Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.12106C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	54	22.697706	0.99950	.	.	ENSG00000103657	ENST00000443617	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.485	0.90825	0.0:0.0:1.0:0.0	.	.	.	.	X	4036	.	ENSP00000390158:Q4036X	Q	-	1	0	HERC1	61716883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.446000	0.82766	0.655000	0.94253	CAG		PASS	0.363	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	4	4	4	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88679203	88679203	+	Silent	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr15:88679203A>G	ENST00000360948.2	-	8	995	c.834T>C	c.(832-834)aaT>aaC	p.N278N	NTRK3_ENST00000542733.2_Silent_p.N180N|NTRK3_ENST00000317501.3_Silent_p.N278N|NTRK3_ENST00000357724.2_Silent_p.N278N|NTRK3_ENST00000557856.1_Silent_p.N278N|NTRK3_ENST00000558676.1_Silent_p.N278N|NTRK3_ENST00000355254.2_Silent_p.N278N|NTRK3_ENST00000394480.2_Silent_p.N278N|NTRK3_ENST00000540489.2_Silent_p.N278N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	278	Ig-like C2-type 1.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N278N(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGTGAAGCCATTGTCCTCAC	0.478			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - coding silent(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(832-834)AAT>AAC		neurotrophic tyrosine kinase, receptor, type 3							247.0	160.0	189.0					15																	88679203		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88679203A>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.834T>C	15.37:g.88679203A>G		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.N278N|NTRK3_uc002bmf.1_Silent_p.N278N|NTRK3_uc010upl.1_Silent_p.N180N|NTRK3_uc010bnh.1_Silent_p.N278N|NTRK3_uc002bmg.2_Silent_p.N278N	p.N278N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		8	996	-			278			Ig-like C2-type 1.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.834T>C	CCDS32322.1																																																																																				PASS	0.478	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				29	136	29	136	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93470511	93470511	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr15:93470511G>T	ENST00000394196.4	+	4	1400	c.332G>T	c.(331-333)cGg>cTg	p.R111L	CHD2_ENST00000420239.2_Missense_Mutation_p.R111L|CHD2_ENST00000536619.1_Missense_Mutation_p.R124L|CHD2_ENST00000557381.1_Missense_Mutation_p.R111L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	111					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.R111L(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGGGTCAGGCGGTCAAACCGA	0.373																																						uc002bsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(331-333)CGG>CTG		chromodomain helicase DNA binding protein 2							109.0	107.0	108.0					15																	93470511		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93470511G>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.332G>T	15.37:g.93470511G>T	ENSP00000377747:p.Arg111Leu					CHD2_uc002bsm.1_Missense_Mutation_p.R111L|CHD2_uc002bsn.2_Missense_Mutation_p.R111L|CHD2_uc002bso.1_Missense_Mutation_p.R111L|CHD2_uc010urb.1_Missense_Mutation_p.R124L	p.R111L	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		4	907	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		111					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.332G>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	36	5.682079	0.96774	.	.	ENSG00000173575	ENST00000556722;ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.92752	-3.09;-3.1;0.03;-0.08	6.02	6.02	0.97574	.	0.000000	0.33253	U	0.005110	D	0.94225	0.8146	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	0.993;0.997;0.998;1.0	D;D;D;D	0.81914	0.982;0.987;0.994;0.995	D	0.94404	0.7625	10	0.87932	D	0	-9.0748	20.5373	0.99239	0.0:0.0:1.0:0.0	.	124;111;111;111	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	L	111;111;111;111;124	ENSP00000377747:R111L;ENSP00000451366:R111L;ENSP00000406581:R111L;ENSP00000443618:R124L	ENSP00000377747:R111L	R	+	2	0	CHD2	91271515	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.188000	0.94921	2.857000	0.98124	0.650000	0.86243	CGG		PASS	0.373	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		12	78	12	78	---	---	---	---
RAB26	25837	broad.mit.edu	37	16	2203412	2203412	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:2203412G>T	ENST00000210187.6	+	9	921	c.761G>T	c.(760-762)tGc>tTc	p.C254F	SNORD60_ENST00000383903.1_RNA|RP11-304L19.5_ENST00000563192.1_lincRNA|TRAF7_ENST00000326181.6_5'Flank|RAB26_ENST00000541451.1_Missense_Mutation_p.C188F	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	254					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)	p.C188F(1)		kidney(1)|large_intestine(1)|lung(3)	5						GCCTCCTGCTGCCGCCCTTGA	0.627																																						uc002cou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)TGC>TTC		RAB26, member RAS oncogene family							31.0	35.0	34.0					16																	2203412		2197	4299	6496	SO:0001583	missense	25837				exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding	g.chr16:2203412G>T	AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.761G>T	16.37:g.2203412G>T	ENSP00000210187:p.Cys254Phe					RAB26_uc010bsf.2_Missense_Mutation_p.C188F|TRAF7_uc002cow.2_5'Flank	p.C254F	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN			9	895	+			254					B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	ENST00000210187.6	37	c.761G>T	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942606	0.53079	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.66460	-0.21;-0.17	4.42	4.42	0.53409	.	0.000000	0.85682	U	0.000000	D	0.83119	0.5185	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86515	0.1812	10	0.87932	D	0	.	15.7349	0.77834	0.0:0.0:1.0:0.0	.	254	Q9ULW5	RAB26_HUMAN	F	188;254	ENSP00000441580:C188F;ENSP00000210187:C254F	ENSP00000210187:C254F	C	+	2	0	RAB26	2143413	1.000000	0.71417	0.989000	0.46669	0.102000	0.19082	8.412000	0.90232	2.296000	0.77279	0.313000	0.20887	TGC		PASS	0.627	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2			3	53	3	53	---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20348016	20348016	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:20348016C>A	ENST00000570689.1	-	9	1920	c.1774G>T	c.(1774-1776)Gtc>Ttc	p.V592F	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Missense_Mutation_p.V592F|UMOD_ENST00000396138.4_Missense_Mutation_p.V641F|UMOD_ENST00000302509.4_Missense_Mutation_p.V592F|UMOD_ENST00000424589.1_Missense_Mutation_p.V625F|UMOD_ENST00000396134.2_Missense_Mutation_p.V625F			P07911	UROM_HUMAN	uromodulin	592					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.V592F(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGATCTATGACACTCCCACTT	0.527																																						uc002dgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1774-1776)GTC>TTC		uromodulin precursor							109.0	89.0	96.0					16																	20348016		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20348016C>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1774G>T	16.37:g.20348016C>A	ENSP00000460548:p.Val592Phe					UMOD_uc002dha.2_Missense_Mutation_p.V592F|UMOD_uc002dhb.2_Missense_Mutation_p.V625F	p.V592F	NM_003361	NP_003352	P07911	UROM_HUMAN			9	1903	-			592					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1774G>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	0.186	-1.057355	0.01965	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	4.33	-5.49	0.02584	.	1.939370	0.02361	N	0.076907	T	0.50769	0.1635	N	0.03154	-0.405	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.50136	-0.8863	10	0.11182	T	0.66	-0.1936	0.3666	0.00372	0.3345:0.1679:0.1393:0.3584	.	625;592	E9PEA4;P07911	.;UROM_HUMAN	F	592;625;625;592;570;592	ENSP00000379438:V625F;ENSP00000416346:V625F;ENSP00000306279:V592F;ENSP00000379446:V592F	ENSP00000306279:V592F	V	-	1	0	UMOD	20255517	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-1.177000	0.03096	-1.198000	0.02669	-0.140000	0.14226	GTC		PASS	0.527	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			44	53	44	53	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20384235	20384235	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:20384235A>C	ENST00000302451.4	-	7	1055	c.807T>G	c.(805-807)atT>atG	p.I269M		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	269					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.I269M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCAACTCGGAAATCAGATCCT	0.458																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(805-807)ATT>ATG		protein disulfide isomerase-like, testis							111.0	106.0	108.0					16																	20384235		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20384235A>C		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.807T>G	16.37:g.20384235A>C	ENSP00000305465:p.Ile269Met						p.I269M	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			7	1030	-			269					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.807T>G	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901741	0.33535	.	.	ENSG00000169340	ENST00000302451	T	0.34667	1.35	5.02	2.77	0.32553	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.78049	2.395	0.38912	D	0.95756	D	0.89917	1.0	D	0.97110	1.0	T	0.57130	-0.7864	10	0.72032	D	0.01	.	7.5297	0.27677	0.8206:0.0:0.1794:0.0	.	269	Q8N807	PDILT_HUMAN	M	269	ENSP00000305465:I269M	ENSP00000305465:I269M	I	-	3	3	PDILT	20291736	1.000000	0.71417	0.981000	0.43875	0.103000	0.19146	1.947000	0.40293	0.394000	0.25230	0.460000	0.39030	ATT		PASS	0.458	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		60	70	60	70	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20570768	20570768	+	Splice_Site	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:20570768G>T	ENST00000329697.6	-	3	347	c.179C>A	c.(178-180)gCt>gAt	p.A60D	ACSM2B_ENST00000565232.1_Splice_Site_p.A60D|ACSM2B_ENST00000414188.2_Splice_Site_p.A60D|ACSM2B_ENST00000565322.1_De_novo_Start_OutOfFrame|ACSM2B_ENST00000567001.1_Splice_Site_p.A60D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	60					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.A60D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCGCTTGCCAGCCTGAGGAAA	0.502																																						uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(178-180)GCT>GAT		acyl-CoA synthetase medium-chain family member							38.0	38.0	38.0					16																	20570768		2201	4300	6501	SO:0001630	splice_region_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570768G>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.178-1C>A	16.37:g.20570768G>T						ACSM2B_uc002dhk.3_Missense_Mutation_p.A60D|ACSM2B_uc010bwf.1_Missense_Mutation_p.A60D	p.A60D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			4	389	-			60					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.179C>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	5.176	0.218071	0.09810	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.46063	0.88;2.13	3.51	2.45	0.29901	.	0.191073	0.26563	N	0.023672	T	0.16642	0.0400	N	0.03948	-0.315	0.29262	N	0.871251	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.14172	-1.0482	10	0.18276	T	0.48	-8.32	8.0539	0.30593	0.0:0.0:0.5461:0.4539	.	60;60	A8K051;Q68CK6	.;ACS2B_HUMAN	D	60	ENSP00000327453:A60D;ENSP00000390378:A60D	ENSP00000327453:A60D	A	-	2	0	ACSM2B	20478269	0.140000	0.22579	0.996000	0.52242	0.477000	0.33069	0.277000	0.18734	1.794000	0.52575	0.609000	0.83330	GCT		PASS	0.502	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	Missense_Mutation	16	23	16	23	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30525157	30525158	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:30525157_30525158AC>TT	ENST00000356798.6	+	25	3032_3033	c.2852_2853AC>TT	c.(2851-2853)cAC>cTT	p.H951L	ITGAL_ENST00000358164.5_Missense_Mutation_p.H867L|ITGAL_ENST00000433423.2_Missense_Mutation_p.H185L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	951					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.H951L(2)|p.H951H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CAAGTCAAGCACATGTACCAGG	0.505																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(2851-2853)CAC>CTC|c.(2851-2853)CAC>CAT		integrin alpha L isoform a precursor	Efalizumab(DB00095)																																			SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30525157A>T|g.chr16:30525158C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		Exception_encountered	16.37:g.30525157_30525158delinsTT	ENSP00000349252:p.His951Leu					ITGAL_uc002dyj.3_Missense_Mutation_p.H867L|ITGAL_uc010vev.1_Missense_Mutation_p.H185L|ITGAL_uc002dyj.3_Silent_p.H867H|ITGAL_uc010vev.1_Silent_p.H185H	p.H951L|p.H951H	NM_002209	NP_002200	P20701	ITAL_HUMAN			25	3028|3029	+			951			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation|Silent	SNP	ENST00000356798.6	37	c.2852A>T|c.2853C>T	CCDS32433.1																																																																																				PASS	0.505	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			17|18	75|73	17	73	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61687975	61687975	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:61687975C>A	ENST00000577390.1	-	12	2891	c.1937G>T	c.(1936-1938)cGg>cTg	p.R646L	CDH8_ENST00000577730.1_Missense_Mutation_p.R646L|CDH8_ENST00000299345.6_Missense_Mutation_p.R646L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					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.R646Q(1)|p.R646L(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)		ATTTTTATGCCGCCGTAGAGT	0.393																																						uc002eog.1																			2	Substitution - Missense(2)	p.R646Q(1)	ovary(1)|lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1936-1938)CGG>CTG		cadherin 8, type 2 preproprotein							64.0	63.0	63.0					16																	61687975		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.chr16:61687975C>A	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.1937G>T	16.37:g.61687975C>A	ENSP00000462701:p.Arg646Leu						p.R646L	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)	12	2189	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	646			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1937G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645513	0.96704	.	.	ENSG00000150394	ENST00000299345	T	0.79749	-1.3	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.91510	0.5226	10	0.62326	D	0.03	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	646	P55286	CADH8_HUMAN	L	646	ENSP00000299345:R646L	ENSP00000299345:R646L	R	-	2	0	CDH8	60245476	1.000000	0.71417	0.963000	0.40424	0.943000	0.58893	6.046000	0.71029	2.679000	0.91253	0.655000	0.94253	CGG		PASS	0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		40	197	40	197	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	62055227	62055227	+	Silent	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:62055227A>T	ENST00000577390.1	-	2	1035	c.81T>A	c.(79-81)atT>atA	p.I27I	CDH8_ENST00000577730.1_Silent_p.I27I|CDH8_ENST00000299345.6_Silent_p.I27I|CDH8_ENST00000584337.1_Silent_p.I27I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	27					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.I27I(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)		GAGCCATGTAAATGCAAGGGG	0.438																																						uc002eog.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(79-81)ATT>ATA		cadherin 8, type 2 preproprotein							77.0	78.0	78.0					16																	62055227		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055227A>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.81T>A	16.37:g.62055227A>T							p.I27I	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)	2	333	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	27					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.81T>A	CCDS10802.1																																																																																				PASS	0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		30	174	30	174	---	---	---	---
DYNLRB2	83657	broad.mit.edu	37	16	80577174	80577174	+	Splice_Site	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:80577174C>A	ENST00000305904.6	+	2	125	c.5C>A	c.(4-6)gCa>gAa	p.A2E	RP11-525K10.3_ENST00000563267.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000568035.1_Splice_Site_p.A2E|RP11-525K10.3_ENST00000568552.1_RNA|RP11-525K10.3_ENST00000564411.1_RNA|RP11-525K10.3_ENST00000565050.1_RNA|RP11-525K10.3_ENST00000568819.1_RNA|DYNLRB2_ENST00000562982.1_Splice_Site_p.A31E	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	2					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.A2E(1)		large_intestine(1)|lung(4)|prostate(1)	6						CTCTTTCAGGCAGAGGTGGAG	0.413																																						uc002ffo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)GCA>GAA		dynein, light chain, roadblock-type 2							119.0	118.0	118.0					16																	80577174		2203	4300	6503	SO:0001630	splice_region_variant	83657				microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr16:80577174C>A	AF125108	CCDS10929.1	16q23.3	2008-02-05	2005-11-25	2005-11-25	ENSG00000168589	ENSG00000168589		"""Cytoplasmic dyneins"""	15467	protein-coding gene	gene with protein product	"""roadblock domain containing 2"""	607168	"""dynein, cytoplasmic, light polypeptide 2B"""	DNCL2B		11750132, 16260502	Standard	NM_130897		Approved	DNLC2B, ROBLD2	uc002ffo.3	Q8TF09	OTTHUMG00000137622	ENST00000305904.6:c.4-1C>A	16.37:g.80577174C>A						DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA	p.A2E	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN			4	125	+			2						Missense_Mutation	SNP	ENST00000305904.6	37	c.5C>A	CCDS10929.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702316	0.68501	.	.	ENSG00000168589	ENST00000305904;ENST00000338542	T;T	0.38401	1.76;1.14	5.66	4.66	0.58398	.	0.414434	0.23108	N	0.051827	T	0.32645	0.0836	.	.	.	0.27257	N	0.958727	B	0.26512	0.151	B	0.31442	0.13	T	0.29701	-1.0003	9	0.54805	T	0.06	-16.9112	14.1494	0.65373	0.1505:0.8494:0.0:0.0	.	2	Q8TF09	DLRB2_HUMAN	E	2	ENSP00000302936:A2E;ENSP00000342009:A2E	ENSP00000302936:A2E	A	+	2	0	DYNLRB2	79134675	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.570000	0.67398	2.665000	0.90641	0.655000	0.94253	GCA		PASS	0.413	DYNLRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269043.1	NM_130897	Missense_Mutation	65	245	65	245	---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85945236	85945236	+	Missense_Mutation	SNP	G	G	T	rs372863612		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr16:85945236G>T	ENST00000268638.5	+	4	841	c.419G>T	c.(418-420)cGc>cTc	p.R140L	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	140					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.R140L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAGTGCGGTCGCTCTGAAATC	0.552																																						uc002fjh.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(418-420)CGC>CTC		interferon regulatory factor 8							129.0	110.0	116.0					16																	85945236		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85945236G>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.419G>T	16.37:g.85945236G>T	ENSP00000268638:p.Arg140Leu					IRF8_uc010chp.2_RNA	p.R140L	NM_002163	NP_002154	Q02556	IRF8_HUMAN			4	476	+		Prostate(104;0.0771)	140					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.419G>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	G	6.853	0.526618	0.13066	.	.	ENSG00000140968	ENST00000268638	D	0.97016	-4.21	4.96	4.01	0.46588	.	0.140428	0.33144	N	0.005236	D	0.91267	0.7247	L	0.50333	1.59	0.23023	N	0.998414	B	0.11235	0.004	B	0.12837	0.008	T	0.75903	-0.3153	10	0.05833	T	0.94	-22.5128	4.1574	0.10266	0.0881:0.1551:0.5969:0.1599	.	140	Q02556	IRF8_HUMAN	L	140	ENSP00000268638:R140L	ENSP00000268638:R140L	R	+	2	0	IRF8	84502737	0.563000	0.26594	0.032000	0.17829	0.044000	0.14063	2.751000	0.47508	1.088000	0.41272	0.561000	0.74099	CGC		PASS	0.552	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		34	31	34	31	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10438456	10438456	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:10438456A>G	ENST00000245503.5	-	19	2498	c.2114T>C	c.(2113-2115)cTg>cCg	p.L705P	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.L705P|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	705	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.L705P(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						GATGCCTTCCAGCACACCGTT	0.453																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2113-2115)CTG>CCG		myosin heavy chain IIa							91.0	85.0	87.0					17																	10438456		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10438456A>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2114T>C	17.37:g.10438456A>G	ENSP00000245503:p.Leu705Pro					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L705P|MYH2_uc010coj.2_Intron	p.L705P	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			19	2242	-			705			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2114T>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495920	0.85069	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.90900	-2.75;-2.75	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.31847	U	0.006966	D	0.97374	0.9141	H	0.99042	4.41	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	D	0.98962	1.0798	10	0.87932	D	0	.	15.0407	0.71788	1.0:0.0:0.0:0.0	.	705	Q9UKX2	MYH2_HUMAN	P	705	ENSP00000245503:L705P;ENSP00000380367:L705P	ENSP00000245503:L705P	L	-	2	0	MYH2	10379181	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.124000	0.94394	2.141000	0.66446	0.482000	0.46254	CTG		PASS	0.453	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		81	65	81	65	---	---	---	---
UBB	7314	broad.mit.edu	37	17	16285604	16285604	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:16285604A>G	ENST00000395837.1	+	2	564	c.383A>G	c.(382-384)gAt>gGt	p.D128G	UBB_ENST00000395839.1_Missense_Mutation_p.D128G|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Missense_Mutation_p.D128G|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	128	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.D128G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CAGCTGGAAGATGGCCGCACT	0.547																																					Melanoma(163;1126 3406 34901)	uc002gpx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(382-384)GAT>GGT		ubiquitin B precursor							83.0	84.0	84.0					17																	16285604		2203	4299	6502	SO:0001583	missense	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285604A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.383A>G	17.37:g.16285604A>G	ENSP00000379178:p.Asp128Gly					UBB_uc010vwe.1_Intron	p.D128G	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	521	+			128			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	c.383A>G	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635593	0.47049	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	T;T;T	0.53423	0.62;0.62;0.62	4.13	4.13	0.48395	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.52532	U	0.000067	T	0.72423	0.3458	M	0.93898	3.47	0.80722	D	1	P	0.35493	0.505	P	0.52823	0.71	T	0.78388	-0.2223	10	0.87932	D	0	.	12.6923	0.56982	1.0:0.0:0.0:0.0	.	128	P0CG47	UBB_HUMAN	G	128	ENSP00000304697:D128G;ENSP00000379180:D128G;ENSP00000379178:D128G	ENSP00000304697:D128G	D	+	2	0	UBB	16226329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.275000	0.89892	1.662000	0.50781	0.524000	0.50904	GAT		PASS	0.547	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		21	96	21	96	---	---	---	---
TNFRSF13B	23495	broad.mit.edu	37	17	16843026	16843026	+	Silent	SNP	C	C	T	rs199603343	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:16843026C>T	ENST00000261652.2	-	5	729	c.717G>A	c.(715-717)gcG>gcA	p.A239A	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Silent_p.A193A|TNFRSF13B_ENST00000437538.2_Silent_p.A193A|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	239					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.A239A(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCTGCGTGGGCGCCCTGCACT	0.672									IgA Deficiency, Selective				.|||	2	0.000399361	0.0008	0.0	5008	,	,		16038	0.0		0.0	False		,,,				2504	0.001					uc002gqs.1																			1	Substitution - coding silent(1)		lung(1)	kidney(2)	2						c.(715-717)GCG>GCA		tumor necrosis factor receptor 13B							32.0	31.0	32.0					17																	16843026		2203	4300	6503	SO:0001819	synonymous_variant	23495	IgA_Deficiency_Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843026C>T	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.717G>A	17.37:g.16843026C>T						TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Silent_p.A193A	p.A239A	NM_012452	NP_036584	O14836	TR13B_HUMAN			5	730	-			239			Cytoplasmic (Potential).		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	ENST00000261652.2	37	c.717G>A	CCDS11181.1																																																																																				PASS	0.672	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			8	31	8	31	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33477133	33477133	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:33477133G>A	ENST00000268876.5	+	4	369	c.272G>A	c.(271-273)gGg>gAg	p.G91E	UNC45B_ENST00000591048.1_Missense_Mutation_p.G91E|UNC45B_ENST00000433649.1_Missense_Mutation_p.G91E|UNC45B_ENST00000378449.1_Missense_Mutation_p.G91E|UNC45B_ENST00000394570.2_Missense_Mutation_p.G91E	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	91					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.G91E(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GAGCACCTGGGGAAGCTGGAC	0.587																																						uc002hja.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(271-273)GGG>GAG		cardiomyopathy associated 4 isoform 1							100.0	82.0	88.0					17																	33477133		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33477133G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.272G>A	17.37:g.33477133G>A	ENSP00000268876:p.Gly91Glu					UNC45B_uc002hjb.2_Missense_Mutation_p.G91E|UNC45B_uc002hjc.2_Missense_Mutation_p.G91E|UNC45B_uc010cto.2_Missense_Mutation_p.G91E	p.G91E	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			4	369	+		Ovarian(249;0.17)	91			TPR 3.		Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.272G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911989	0.52439	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.55	3.58	0.41010	Armadillo-like helical (1);Armadillo-type fold (1);Tetratricopeptide repeat-containing (1);	0.102684	0.64402	D	0.000002	T	0.79446	0.4447	L	0.48935	1.535	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.996	T	0.75190	-0.3405	10	0.21540	T	0.41	-20.2935	12.1547	0.54070	0.0839:0.0:0.9161:0.0	.	91;91;91	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	E	91	ENSP00000378071:G91E;ENSP00000268876:G91E;ENSP00000412840:G91E;ENSP00000367710:G91E	ENSP00000268876:G91E	G	+	2	0	UNC45B	30501246	1.000000	0.71417	0.974000	0.42286	0.999000	0.98932	7.657000	0.83745	1.268000	0.44264	0.650000	0.86243	GGG		PASS	0.587	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		15	77	15	77	---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42932010	42932010	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:42932010C>T	ENST00000426333.2	-	22	2470	c.2173G>A	c.(2173-2175)Gat>Aat	p.D725N	EFTUD2_ENST00000592576.1_Missense_Mutation_p.D715N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D690N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D725N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	725					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D725N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCCAGCAGATCCCAATCGTAC	0.567																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2173-2175)GAT>AAT		elongation factor Tu GTP binding domain							84.0	80.0	81.0					17																	42932010		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42932010C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2173G>A	17.37:g.42932010C>T	ENSP00000392094:p.Asp725Asn					EFTUD2_uc010wje.1_Missense_Mutation_p.D690N|EFTUD2_uc010wjf.1_Missense_Mutation_p.D715N	p.D725N	NM_004247	NP_004238	Q15029	U5S1_HUMAN			22	2434	-		Prostate(33;0.109)	725					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2173G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606223	0.96626	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.32272	1.46;1.46	5.14	5.14	0.70334	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78152	-0.2315	10	0.87932	D	0	-7.9886	18.8054	0.92035	0.0:1.0:0.0:0.0	.	715;725	B4DMC0;Q15029	.;U5S1_HUMAN	N	725;715;690	ENSP00000392094:D725N;ENSP00000385873:D690N	ENSP00000262414:D715N	D	-	1	0	EFTUD2	40287536	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.651000	0.83577	2.697000	0.92050	0.655000	0.94253	GAT		PASS	0.567	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		65	105	65	105	---	---	---	---
CRHR1	1394	broad.mit.edu	37	17	43906642	43906642	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:43906642C>T	ENST00000398285.3	+	5	389	c.389C>T	c.(388-390)tCc>tTc	p.S130F	CRHR1_ENST00000352855.5_Missense_Mutation_p.S90F|CRHR1_ENST00000577353.1_Missense_Mutation_p.S130F|CRHR1_ENST00000339069.5_Missense_Mutation_p.S29F|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Missense_Mutation_p.S130F	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	130					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.S130F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CACTGTATCTCCCTGGTGGCC	0.582																																					Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(388-390)TCC>TTC		corticotropin releasing hormone receptor 1							87.0	94.0	91.0					17																	43906642		2061	4196	6257	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43906642C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.389C>T	17.37:g.43906642C>T	ENSP00000381333:p.Ser130Phe					CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Missense_Mutation_p.S29F|CRHR1_uc002ijm.2_Missense_Mutation_p.S130F|CRHR1_uc002ijn.2_Missense_Mutation_p.S90F|CRHR1_uc010dar.2_Missense_Mutation_p.S130F|CRHR1_uc010dao.2_Missense_Mutation_p.S29F|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA	p.S130F	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	654	+	Colorectal(2;0.0416)		130			Helical; Name=1; (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.389C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971113	0.53614	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;D;T	0.88586	-0.77;-0.77;-0.77;-2.4;-0.77	5.43	5.43	0.79202	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.93035	0.7783	L	0.53671	1.685	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	0.998;0.996;1.0;1.0;0.997;0.998	D	0.93570	0.6903	10	0.87932	D	0	.	16.7507	0.85485	0.0:1.0:0.0:0.0	.	130;130;29;29;90;130	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	F	29;130;130;130;90	ENSP00000340522:S29F;ENSP00000381333:S130F;ENSP00000326060:S130F;ENSP00000239167:S130F;ENSP00000344068:S90F	ENSP00000326060:S130F	S	+	2	0	CRHR1	41262423	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.561000	0.86390	0.561000	0.74099	TCC		PASS	0.582	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			26	42	26	42	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44116482	44116482	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:44116482G>A	ENST00000262419.6	-	9	2773	c.2303C>T	c.(2302-2304)gCa>gTa	p.A768V	KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000572904.1_Missense_Mutation_p.A768V|KANSL1_ENST00000432791.1_Missense_Mutation_p.A768V|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000574590.1_Missense_Mutation_p.A768V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	768					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A768V(1)									CAAGCGCTCTGCTTTTGGCGC	0.587																																						uc002ikb.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2302-2304)GCA>GTA		hypothetical protein LOC284058							210.0	176.0	187.0					17																	44116482		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44116482G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2303C>T	17.37:g.44116482G>A	ENSP00000262419:p.Ala768Val					KIAA1267_uc002ikc.2_Missense_Mutation_p.A768V|KIAA1267_uc002ikd.2_Missense_Mutation_p.A768V|KIAA1267_uc010dav.2_Missense_Mutation_p.A768V|KIAA1267_uc010wkb.1_Missense_Mutation_p.A99V|KIAA1267_uc010wkc.1_Intron	p.A768V	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			8	2388	-		Melanoma(429;0.211)	768					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2303C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820873	0.32237	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.11277	2.79;2.79	5.93	4.96	0.65561	.	0.220415	0.43260	D	0.000586	T	0.05823	0.0152	N	0.08118	0	0.80722	D	1	B;B;B	0.27229	0.172;0.093;0.093	B;B;B	0.29598	0.104;0.033;0.033	T	0.45026	-0.9289	10	0.25106	T	0.35	-11.5339	10.0407	0.42155	0.0884:0.0:0.9116:0.0	.	99;768;768	Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;K1267_HUMAN	V	768	ENSP00000262419:A768V;ENSP00000387393:A768V	ENSP00000262419:A768V	A	-	2	0	KIAA1267	41472329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.395000	0.59678	2.826000	0.97356	0.655000	0.94253	GCA		PASS	0.587	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		38	168	38	168	---	---	---	---
HOXB5	3215	broad.mit.edu	37	17	46670559	46670559	+	Missense_Mutation	SNP	C	C	T	rs139139266		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:46670559C>T	ENST00000239151.5	-	1	764	c.486G>A	c.(484-486)atG>atA	p.M162I	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000472863.1_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000476342.1_5'Flank|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB3_ENST00000460160.1_5'Flank|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	162					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.M162I(1)		large_intestine(1)|lung(2)	3						TGGAGGTGGCCATGGGCTCTG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		14393	0.001		0.0	False		,,,				2504	0.0					uc002inr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)ATG>ATA		homeobox B5							34.0	39.0	37.0					17																	46670559		2203	4300	6503	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670559C>T		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.486G>A	17.37:g.46670559C>T	ENSP00000239151:p.Met162Ile					HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	p.M162I	NM_002147	NP_002138	P09067	HXB5_HUMAN			1	545	-			162					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.486G>A	CCDS11530.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.07	1.529355	0.27387	.	.	ENSG00000120075	ENST00000239151	D	0.91521	-2.86	5.31	2.08	0.27032	.	0.281951	0.40818	N	0.001009	T	0.71668	0.3367	N	0.02011	-0.69	0.31562	N	0.657357	B	0.02656	0.0	B	0.01281	0.0	T	0.67197	-0.5731	10	0.34782	T	0.22	.	5.3965	0.16273	0.1119:0.564:0.2361:0.088	.	162	P09067	HXB5_HUMAN	I	162	ENSP00000239151:M162I	ENSP00000239151:M162I	M	-	3	0	HOXB5	44025558	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.290000	0.43531	1.224000	0.43551	0.455000	0.32223	ATG		PASS	0.597	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			21	81	21	81	---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47126782	47126782	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:47126782C>A	ENST00000290341.3	+	15	2044	c.1710C>A	c.(1708-1710)aaC>aaA	p.N570K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.N431K|AC105030.1_ENST00000578722.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	570	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.N570K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACAGAGTAACCAGGCCCAGG	0.597																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1708-1710)AAC>AAA		insulin-like growth factor 2 mRNA binding							127.0	90.0	103.0					17																	47126782		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47126782C>A	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1710C>A	17.37:g.47126782C>A	ENSP00000290341:p.Asn570Lys					IGF2BP1_uc010dbj.2_Missense_Mutation_p.N431K	p.N570K	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			15	2044	+			570			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1710C>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324749	0.41197	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.29917	2.3;1.55	5.03	3.92	0.45320	.	0.339061	0.30501	N	0.009496	T	0.19685	0.0473	N	0.22421	0.69	0.43988	D	0.996685	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.002	T	0.04216	-1.0968	10	0.45353	T	0.12	-22.5681	8.9172	0.35590	0.0:0.8681:0.0:0.1319	.	431;570	C9JT33;Q9NZI8	.;IF2B1_HUMAN	K	570;431	ENSP00000290341:N570K;ENSP00000389135:N431K	ENSP00000290341:N570K	N	+	3	2	IGF2BP1	44481781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.072000	0.30678	1.228000	0.43614	0.655000	0.94253	AAC		PASS	0.597	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		4	43	4	43	---	---	---	---
CACNG4	27092	broad.mit.edu	37	17	65026669	65026669	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:65026669A>G	ENST00000262138.3	+	4	535	c.533A>G	c.(532-534)cAt>cGt	p.H178R	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	178					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.H178R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			AAAAAGAACCATTACAACTAC	0.458																																						uc002jft.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(532-534)CAT>CGT		voltage-dependent calcium channel gamma-4							109.0	103.0	105.0					17																	65026669		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|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|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026669A>G	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.533A>G	17.37:g.65026669A>G	ENSP00000262138:p.His178Arg						p.H178R	NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	548	+	all_cancers(12;9.86e-11)		178			Extracellular (Potential).		B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.533A>G	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064947	0.36470	.	.	ENSG00000075461	ENST00000262138	D	0.87809	-2.3	4.9	4.9	0.64082	.	0.328967	0.37095	N	0.002254	D	0.83792	0.5331	L	0.43923	1.385	0.36684	D	0.879225	B	0.30870	0.298	B	0.37198	0.243	T	0.82890	-0.0233	10	0.19590	T	0.45	-15.2081	14.6013	0.68443	1.0:0.0:0.0:0.0	.	178	Q9UBN1	CCG4_HUMAN	R	178	ENSP00000262138:H178R	ENSP00000262138:H178R	H	+	2	0	CACNG4	62457131	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.691000	0.54720	1.854000	0.53819	0.454000	0.30748	CAT		PASS	0.458	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		53	123	53	123	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67081324	67081324	+	Splice_Site	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:67081324C>G	ENST00000284425.2	-	32	4204		c.e32-1		ABCA6_ENST00000446604.2_Splice_Site	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCAGTTCCACCTAAAAAAATA	0.448																																						uc002jhw.1																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.e32-1		ATP-binding cassette, sub-family A, member 6							20.0	19.0	20.0					17																	67081324		2203	4299	6502	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67081324C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4030-1G>C	17.37:g.67081324C>G							p.V1344_splice	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			32	4205	-	Breast(10;5.65e-12)							Q6NSH9|Q8N856|Q8WWZ6	Splice_Site	SNP	ENST00000284425.2	37	c.4030_splice	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668932	0.67814	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3288	0.82997	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA6	64592919	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	2.992000	0.49417	2.632000	0.89209	0.650000	0.86243	.		PASS	0.448	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Intron	6	24	6	24	---	---	---	---
TTYH2	94015	broad.mit.edu	37	17	72239531	72239531	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:72239531G>T	ENST00000269346.4	+	5	728	c.654G>T	c.(652-654)ctG>ctT	p.L218L	TTYH2_ENST00000529107.1_Silent_p.L197L|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	218						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.L218L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCTACCTCCTGCTCTTTATCC	0.627																																						uc002jkc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(652-654)CTG>CTT		tweety 2 isoform 1							236.0	176.0	196.0					17																	72239531		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72239531G>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.654G>T	17.37:g.72239531G>T						TTYH2_uc010wqw.1_Silent_p.L197L	p.L218L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			5	685	+			218			Helical; Name=3; (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.654G>T	CCDS32717.1																																																																																				PASS	0.627	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			20	136	20	136	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78866598	78866598	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:78866598G>A	ENST00000306801.3	+	19	2533	c.2171G>A	c.(2170-2172)gGa>gAa	p.G724E	RPTOR_ENST00000544334.2_Missense_Mutation_p.G566E|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	724					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.G724E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGCTCCTATGGAAACATCCGT	0.502																																						uc002jyt.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|urinary_tract(1)|ovary(1)	6						c.(2170-2172)GGA>GAA		raptor isoform 1							119.0	125.0	123.0					17																	78866598		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78866598G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2171G>A	17.37:g.78866598G>A	ENSP00000307272:p.Gly724Glu					RPTOR_uc010wug.1_Missense_Mutation_p.G566E	p.G724E	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			19	2976	+			724					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2171G>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604815	0.46423	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.42131	1.03;0.98	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.156432	0.43260	D	0.000597	T	0.27731	0.0682	N	0.08118	0	0.80722	D	1	P;B	0.50272	0.933;0.039	P;B	0.47470	0.548;0.023	T	0.09058	-1.0692	10	0.02654	T	1	.	17.5562	0.87890	0.0:0.0:1.0:0.0	.	566;724	F5H7J5;Q8N122	.;RPTOR_HUMAN	E	724;566	ENSP00000307272:G724E;ENSP00000442479:G566E	ENSP00000307272:G724E	G	+	2	0	RPTOR	76481193	1.000000	0.71417	0.105000	0.21289	0.063000	0.16089	6.745000	0.74860	2.143000	0.66587	0.655000	0.94253	GGA		PASS	0.502	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		32	158	32	158	---	---	---	---
NPLOC4	55666	broad.mit.edu	37	17	79534552	79534552	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr17:79534552T>C	ENST00000331134.6	-	15	1672	c.1457A>G	c.(1456-1458)cAt>cGt	p.H486R	NPLOC4_ENST00000539314.1_Missense_Mutation_p.H325R|NPLOC4_ENST00000573876.1_5'Flank|NPLOC4_ENST00000572760.1_5'Flank|NPLOC4_ENST00000374747.5_Missense_Mutation_p.H486R	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	486					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.H486R(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCCAAGCTATGGAAGTCCTA	0.448																																						uc002kat.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1456-1458)CAT>CGT		nuclear protein localization 4							105.0	99.0	101.0					17																	79534552		1963	4154	6117	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79534552T>C	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1457A>G	17.37:g.79534552T>C	ENSP00000331487:p.His486Arg					NPLOC4_uc002kau.3_Missense_Mutation_p.H486R|NPLOC4_uc010wur.1_Missense_Mutation_p.H325R|NPLOC4_uc010dic.2_5'Flank|NPLOC4_uc002kas.2_Missense_Mutation_p.I10V	p.H486R	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		15	1639	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		486					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1457A>G	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546966	0.65198	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.83	5.83	0.93111	Nuclear pore localisation protein NPL4 (1);	0.049159	0.85682	D	0.000000	T	0.45657	0.1353	N	0.12887	0.27	0.80722	D	1	B;B;B	0.29270	0.007;0.202;0.24	B;B;B	0.39027	0.003;0.19;0.288	T	0.40813	-0.9543	9	0.15499	T	0.54	-32.4528	15.8744	0.79151	0.0:0.0:0.0:1.0	.	325;486;486	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	R	486;485;325	.	ENSP00000331487:H486R	H	-	2	0	NPLOC4	77144990	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	7.381000	0.79718	2.235000	0.73313	0.533000	0.62120	CAT		PASS	0.448	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			8	17	8	17	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2921625	2921625	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr18:2921625G>A	ENST00000261596.4	-	18	2586	c.2348C>T	c.(2347-2349)cCa>cTa	p.P783L	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	783	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.P783L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAACTTCTCTGGTTTCTTTTC	0.383																																						uc002klo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2347-2349)CCA>CTA		lipin 2							87.0	85.0	86.0					18																	2921625		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2921625G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2348C>T	18.37:g.2921625G>A	ENSP00000261596:p.Pro783Leu						p.P783L	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	18	2587	-			783			C-LIP.		A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.2348C>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297797	0.95574	.	.	ENSG00000101577	ENST00000261596	D	0.88664	-2.41	5.78	5.78	0.91487	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96834	0.9613	10	0.72032	D	0.01	-13.1105	20.0137	0.97470	0.0:0.0:1.0:0.0	.	783	Q92539	LPIN2_HUMAN	L	783	ENSP00000261596:P783L	ENSP00000261596:P783L	P	-	2	0	LPIN2	2911625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.358000	0.97109	2.734000	0.93682	0.563000	0.77884	CCA		PASS	0.383	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		45	96	45	96	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28979337	28979337	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr18:28979337A>G	ENST00000308128.4	+	9	1243	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.T370A	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T370A(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATGCACCCAACCCCTGTGAG	0.418																																						uc002kwq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(1108-1110)ACC>GCC		desmoglein 4 isoform 2 preproprotein							126.0	121.0	123.0					18																	28979337		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28979337A>G	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1108A>G	18.37:g.28979337A>G	ENSP00000311859:p.Thr370Ala					DSG4_uc002kwr.2_Missense_Mutation_p.T370A	p.T370A	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		9	1243	+			370			Cadherin 3.|Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1108A>G	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.218026	0.39201	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.51817	0.69;0.69	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.35772	N	0.002982	T	0.61540	0.2355	M	0.79926	2.475	0.44946	D	0.997963	P;P	0.50943	0.94;0.482	P;P	0.53185	0.72;0.515	T	0.61282	-0.7094	10	0.19590	T	0.45	.	15.5959	0.76578	1.0:0.0:0.0:0.0	.	370;370	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	A	370	ENSP00000311859:T370A;ENSP00000352785:T370A	ENSP00000311859:T370A	T	+	1	0	DSG4	27233335	0.398000	0.25279	0.983000	0.44433	0.613000	0.37349	3.818000	0.55678	2.139000	0.66308	0.528000	0.53228	ACC		PASS	0.418	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		46	314	46	314	---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31599452	31599452	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr18:31599452C>A	ENST00000261592.5	-	6	1183	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	NOL4_ENST00000269185.4_Missense_Mutation_p.G182W|NOL4_ENST00000538587.1_Missense_Mutation_p.G222W|NOL4_ENST00000535384.1_Missense_Mutation_p.G11W|NOL4_ENST00000589544.1_Missense_Mutation_p.G296W|NOL4_ENST00000535475.1_Missense_Mutation_p.G141W	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	296						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.G296W(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGCTCCAGCCCAGTTTTGCCA	0.498																																						uc010dmi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(886-888)GGG>TGG		nucleolar protein 4							172.0	146.0	155.0					18																	31599452		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31599452C>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.886G>T	18.37:g.31599452C>A	ENSP00000261592:p.Gly296Trp					NOL4_uc010xbs.1_Missense_Mutation_p.G11W|NOL4_uc002kxr.3_Missense_Mutation_p.G132W|NOL4_uc010xbt.1_Missense_Mutation_p.G222W|NOL4_uc010dmh.2_Missense_Mutation_p.G222W|NOL4_uc010xbu.1_Missense_Mutation_p.G296W|NOL4_uc002kxt.3_Missense_Mutation_p.G296W|NOL4_uc010xbv.1_Missense_Mutation_p.G45W|NOL4_uc010xbw.1_Missense_Mutation_p.G182W	p.G296W	NM_003787	NP_003778	O94818	NOL4_HUMAN			6	1115	-			296					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.886G>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384270	0.61845	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.61	3.58	0.41010	.	0.688503	0.14154	N	0.337801	T	0.76608	0.4011	N	0.14661	0.345	0.27776	N	0.943318	P;D;P;P;P;P;P;P	0.54964	0.793;0.969;0.933;0.933;0.793;0.793;0.844;0.933	B;P;B;B;B;B;B;B	0.55508	0.386;0.777;0.386;0.386;0.28;0.386;0.299;0.386	T	0.67585	-0.5633	10	0.72032	D	0.01	-1.7149	4.2714	0.10789	0.0:0.5415:0.0:0.4585	.	182;45;11;222;296;11;296;141	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	W	296;182;45;11;141;222	ENSP00000261592:G296W;ENSP00000269185:G182W;ENSP00000445733:G11W;ENSP00000438190:G141W;ENSP00000443472:G222W	ENSP00000261592:G296W	G	-	1	0	NOL4	29853450	0.989000	0.36119	0.999000	0.59377	0.997000	0.91878	1.745000	0.38278	1.378000	0.46305	0.637000	0.83480	GGG		PASS	0.498	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		19	50	19	50	---	---	---	---
TCEB3C	162699	broad.mit.edu	37	18	44554669	44554669	+	Silent	SNP	C	C	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr18:44554669C>G	ENST00000330682.2	-	1	1780	c.1545G>C	c.(1543-1545)gcG>gcC	p.A515A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A515A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGTccgcgggcgccgcgtgcc	0.672																																						uc010xdb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1543-1545)GCG>GCC		transcription elongation factor B polypeptide							2.0	1.0	2.0					18																	44554669		481	915	1396	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554669C>G	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1545G>C	18.37:g.44554669C>G						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.A515A	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1781	-			515						Silent	SNP	ENST00000330682.2	37	c.1545G>C	CCDS11931.1																																																																																				PASS	0.672	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		5	186	5	186	---	---	---	---
NARS	4677	broad.mit.edu	37	18	55270146	55270146	+	Missense_Mutation	SNP	C	C	T	rs145472082		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr18:55270146C>T	ENST00000256854.5	-	12	1736	c.1281G>A	c.(1279-1281)atG>atA	p.M427I	NARS_ENST00000423481.2_Missense_Mutation_p.M178I	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	427					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.M427I(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TGGTGTCTGTCATCAGTCTCT	0.453																																						uc002lgs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1279-1281)ATG>ATA		asparaginyl-tRNA synthetase	L-Asparagine(DB00174)	C	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	128.0	108.0	115.0		1281	6.0	1.0	18	dbSNP_134	115	0,8600		0,0,4300	no	missense	NARS	NM_004539.3	10	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	427/549	55270146	1,13005	2203	4300	6503	SO:0001583	missense	4677				asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr18:55270146C>T	D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1281G>A	18.37:g.55270146C>T	ENSP00000256854:p.Met427Ile					NARS_uc002lgt.2_Missense_Mutation_p.M426I|NARS_uc010xea.1_Missense_Mutation_p.M178I	p.M427I	NM_004539	NP_004530	O43776	SYNC_HUMAN			12	1509	-		Colorectal(73;0.227)	427					B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	c.1281G>A	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504723	0.96371	2.27E-4	0.0	ENSG00000134440	ENST00000256854;ENST00000423481	D;D	0.82803	-1.65;-1.65	5.99	5.99	0.97316	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.83105	0.5182	L	0.28344	0.845	0.80722	D	1	P;P	0.45044	0.849;0.812	P;P	0.52710	0.697;0.707	T	0.79424	-0.1809	10	0.26408	T	0.33	.	20.0728	0.97731	0.0:1.0:0.0:0.0	.	178;427	B4DN60;O43776	.;SYNC_HUMAN	I	427;178	ENSP00000256854:M427I;ENSP00000407919:M178I	ENSP00000256854:M427I	M	-	3	0	NARS	53421144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.316000	0.79007	2.840000	0.97914	0.655000	0.94253	ATG		PASS	0.453	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539		30	81	30	81	---	---	---	---
TMEM259	91304	broad.mit.edu	37	19	1014274	1014274	+	Missense_Mutation	SNP	C	C	A	rs145798599		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:1014274C>A	ENST00000356663.3	-	2	545	c.424G>T	c.(424-426)Gtg>Ttg	p.V142L	TMEM259_ENST00000333175.5_Missense_Mutation_p.V142L	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	142						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.V142L(1)									CCTGGTTCCACGGCCAGGCCC	0.642																																						uc002lqr.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(1)	3						c.(424-426)GTG>TTG		membralin isoform 1							52.0	51.0	51.0					19																	1014274		2201	4300	6501	SO:0001583	missense	91304					cytoplasm|integral to membrane		g.chr19:1014274C>A	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.424G>T	19.37:g.1014274C>A	ENSP00000349087:p.Val142Leu					C19orf6_uc002lqq.1_5'Flank|C19orf6_uc002lqs.1_Missense_Mutation_p.V142L	p.V142L	NM_001033026	NP_001028198	Q4ZIN3	MBRL_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)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)	2	570	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	142					O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.424G>T	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	T	0.135	-1.108597	0.01813	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	3.76	-7.46	0.01369	.	1.177860	0.06492	N	0.734780	T	0.23410	0.0566	L	0.28115	0.83	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.14578	0.004;0.011	T	0.22382	-1.0218	9	0.19147	T	0.46	-11.347	7.7867	0.29095	0.0:0.4352:0.1965:0.3683	.	142;142	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	L	142	.	ENSP00000331423:V142L	V	-	1	0	C19orf6	965274	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.200000	0.03029	-1.460000	0.01911	-3.328000	0.00044	GTG		PASS	0.642	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		23	35	23	35	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14574647	14574647	+	Silent	SNP	G	G	A	rs149310057		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:14574647G>A	ENST00000242783.6	+	11	1668	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	PKN1_ENST00000342216.4_Silent_p.A507A	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	501					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.A501A(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGGGAAGGCGTTCCAGCGTG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		17701	0.001		0.0	False		,,,				2504	0.0				NSCLC(185;2539 2965 10733 52867)	uc002myp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1501-1503)GCG>GCA		protein kinase N1 isoform 2		G	,	0,4386		0,0,2193	41.0	46.0	44.0		1503,1521	-8.2	0.1	19	dbSNP_134	44	1,8565		0,1,4282	no	coding-synonymous,coding-synonymous	PKN1	NM_002741.3,NM_213560.1	,	0,1,6475	AA,AG,GG		0.0117,0.0,0.0077	,	501/943,507/949	14574647	1,12951	2193	4283	6476	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574647G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1503G>A	19.37:g.14574647G>A						PKN1_uc002myq.2_Silent_p.A507A	p.A501A	NM_002741	NP_002732	Q16512	PKN1_HUMAN			11	1671	+			501					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.1503G>A	CCDS42513.1																																																																																				PASS	0.667	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		19	50	19	50	---	---	---	---
CYP4F8	11283	broad.mit.edu	37	19	15734154	15734155	+	RNA	DNP	TG	TG	CT			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:15734154_15734155TG>CT	ENST00000441682.2	+	0	948_949							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L295S(2)|p.L295F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCCAAGACTTTGGACTTTATTG	0.535																																						uc002nbi.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(886-888)TTG>TCG|c.(886-888)TTG>TTT		cytochrome P450, family 4, subfamily F,																																						11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15734154T>C|g.chr19:15734155G>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386	Exception_encountered	19.37:g.15734154_15734155delinsCT						CYP4F8_uc010xoj.1_Missense_Mutation_p.L108S|CYP4F8_uc010xoj.1_Missense_Mutation_p.L108F	p.L296S|p.L296F	NM_007253	NP_009184	P98187	CP4F8_HUMAN			9	951|952	+			296						Missense_Mutation	SNP	ENST00000441682.2	37	c.887T>C|c.888G>T																																																																																					PASS	0.535	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		47|48	44|43	47	43	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16611923	16611923	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:16611923G>A	ENST00000221671.3	+	2	476	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.R107Q	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	107								p.R107Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ATCATGAATCGGAAGCTGCAG	0.572																																						uc002neh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)CGG>CAG		hypothetical protein LOC84167							69.0	78.0	75.0					19																	16611923		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611923G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.320G>A	19.37:g.16611923G>A	ENSP00000221671:p.Arg107Gln					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R107Q|C19orf44_uc002neg.2_Missense_Mutation_p.R107Q|C19orf44_uc010eai.1_RNA	p.R107Q	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	393	+			107					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.320G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415406	0.83449	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.3	5.3	0.74995	.	0.078469	0.51477	D	0.000087	T	0.75810	0.3900	M	0.74258	2.255	0.34031	D	0.653843	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83968	0.0325	9	0.87932	D	0	-26.9698	15.7129	0.77644	0.0:0.0:1.0:0.0	.	107;107	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	Q	107	.	ENSP00000221671:R107Q	R	+	2	0	C19orf44	16472923	0.605000	0.26941	0.117000	0.21633	0.012000	0.07955	2.365000	0.44196	2.482000	0.83794	0.655000	0.94253	CGG		PASS	0.572	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		4	171	4	171	---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17298786	17298786	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:17298786C>T	ENST00000594824.1	+	19	2767	c.2620C>T	c.(2620-2622)Cgc>Tgc	p.R874C	MYO9B_ENST00000595618.1_Missense_Mutation_p.R874C|MYO9B_ENST00000397274.2_Missense_Mutation_p.R874C			Q13459	MYO9B_HUMAN	myosin IXB	874	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R874C(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCAGCAGCTGCGCTACACCGG	0.582																																						uc010eak.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(2620-2622)CGC>TGC		myosin IXB isoform 1							40.0	39.0	40.0					19																	17298786		2201	4296	6497	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17298786C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2620C>T	19.37:g.17298786C>T	ENSP00000471367:p.Arg874Cys					MYO9B_uc002nfi.2_Missense_Mutation_p.R874C|MYO9B_uc002nfj.1_Missense_Mutation_p.R874C	p.R874C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			19	2772	+			874			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.2620C>T		.	.	.	.	.	.	.	.	.	.	C	19.44	3.828205	0.71143	.	.	ENSG00000099331	ENST00000397274	D	0.88896	-2.44	4.7	3.63	0.41609	Myosin head, motor domain (2);	0.000000	0.52532	D	0.000061	D	0.95943	0.8679	H	0.96239	3.79	0.49389	D	0.999789	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.96920	0.9673	10	0.87932	D	0	.	13.7263	0.62761	0.2144:0.7856:0.0:0.0	.	874;874;880	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	C	874	ENSP00000380444:R874C	ENSP00000380444:R874C	R	+	1	0	MYO9B	17159786	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.749000	0.38319	2.167000	0.68274	0.511000	0.50034	CGC		PASS	0.582	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			12	6	12	6	---	---	---	---
MVB12A	93343	broad.mit.edu	37	19	17534529	17534529	+	Silent	SNP	G	G	A	rs144389449	byFrequency	TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:17534529G>A	ENST00000317040.7	+	6	1616	c.561G>A	c.(559-561)gcG>gcA	p.A187A	MVB12A_ENST00000528515.1_Missense_Mutation_p.R145H|MVB12A_ENST00000529939.1_Silent_p.A187A|MVB12A_ENST00000543795.1_Silent_p.A187A|MVB12A_ENST00000392702.2_Silent_p.A147A|CTD-2521M24.6_ENST00000593957.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	187					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.A187A(1)									AGCGGACAGCGTCAAGGCTGG	0.622																																						uc002ngo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(559-561)GCG>GCA		family with sequence similarity 125, member A		G		0,4406		0,0,2203	57.0	58.0	58.0		561	-0.3	0.5	19	dbSNP_134	58	2,8598		0,2,4298	no	coding-synonymous	FAM125A	NM_138401.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		187/274	17534529	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	93343				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding	g.chr19:17534529G>A	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.561G>A	19.37:g.17534529G>A						FAM125A_uc002ngp.1_Silent_p.A95A|FAM125A_uc002ngq.1_Silent_p.A83A	p.A187A	NM_138401	NP_612410	Q96EY5	F125A_HUMAN			6	594	+			187					Q96I18	Silent	SNP	ENST00000317040.7	37	c.561G>A	CCDS12359.1	.	.	.	.	.	.	.	.	.	.	.	11.34	1.608708	0.28623	0.0	2.33E-4	ENSG00000141971	ENST00000528515	.	.	.	5.03	-0.305	0.12784	.	.	.	.	.	T	0.49287	0.1548	.	.	.	0.36673	D	0.878581	.	.	.	.	.	.	T	0.55786	-0.8086	5	0.87932	D	0	-9.2201	2.3464	0.04272	0.1941:0.1504:0.5017:0.1538	.	.	.	.	H	145	.	ENSP00000433677:R145H	R	+	2	0	FAM125A	17395529	0.013000	0.17824	0.459000	0.27081	0.070000	0.16714	-0.829000	0.04415	0.162000	0.19483	0.456000	0.33151	CGT		PASS	0.622	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		43	42	43	42	---	---	---	---
LRFN3	79414	broad.mit.edu	37	19	36431636	36431636	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:36431636G>T	ENST00000588831.1	+	3	2363	c.1309G>T	c.(1309-1311)Ggg>Tgg	p.G437W	LRFN3_ENST00000246529.3_Missense_Mutation_p.G437W			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	437	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.G437W(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACTGAGCACGGGGCCACAGC	0.642																																						uc002oco.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1309-1311)GGG>TGG		leucine rich repeat and fibronectin type III							35.0	35.0	35.0					19																	36431636		2203	4300	6503	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431636G>T	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1309G>T	19.37:g.36431636G>T	ENSP00000466989:p.Gly437Trp						p.G437W	NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	1761	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		437			Extracellular (Potential).|Fibronectin type-III.		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.1309G>T	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580316	0.28180	.	.	ENSG00000126243	ENST00000246529	T	0.05139	3.49	5.07	2.73	0.32206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.37053	N	0.002264	T	0.07098	0.0180	N	0.08118	0	0.33648	D	0.608083	D	0.64830	0.994	D	0.70487	0.969	T	0.32745	-0.9895	10	0.72032	D	0.01	.	2.3487	0.04278	0.2315:0.0:0.496:0.2725	.	437	Q9BTN0	LRFN3_HUMAN	W	437	ENSP00000246529:G437W	ENSP00000246529:G437W	G	+	1	0	LRFN3	41123476	1.000000	0.71417	0.995000	0.50966	0.113000	0.19764	4.625000	0.61262	1.104000	0.41587	-0.293000	0.09583	GGG		PASS	0.642	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		16	21	16	21	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50764812	50764812	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:50764812G>T	ENST00000596571.1	+	18	2382	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	MYH14_ENST00000425460.1_Missense_Mutation_p.Q802H|MYH14_ENST00000598205.1_Missense_Mutation_p.Q802H|MYH14_ENST00000601313.1_Missense_Mutation_p.Q835H|MYH14_ENST00000376970.2_Missense_Mutation_p.Q827H|MYH14_ENST00000262269.8_Missense_Mutation_p.Q835H|MYH14_ENST00000440075.2_Missense_Mutation_p.Q835H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	794	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q794H(2)|p.Q835H(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCCTGGCCCAGCTGGAAGAGG	0.647																																						uc002prr.1																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	central_nervous_system(1)	1						c.(2380-2382)CAG>CAT		myosin, heavy chain 14 isoform 2							37.0	42.0	40.0					19																	50764812		2092	4235	6327	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50764812G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2382G>T	19.37:g.50764812G>T	ENSP00000472819:p.Gln794His					MYH14_uc010enu.1_Missense_Mutation_p.Q835H|MYH14_uc002prq.1_Missense_Mutation_p.Q802H	p.Q794H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	19	2429	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	794			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.2382G>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	1.066	-0.671391	0.03403	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.48	0.947	0.19555	Myosin head, motor domain (1);	.	.	.	.	T	0.37839	0.1018	N	0.03194	-0.395	0.31545	N	0.659488	B;B;B	0.15719	0.014;0.003;0.005	B;B;B	0.19148	0.024;0.006;0.006	T	0.31420	-0.9944	9	0.12430	T	0.62	.	1.8085	0.03085	0.1802:0.1607:0.4942:0.1648	.	835;794;802	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	794;835;827;802;794;835	ENSP00000406273:Q835H;ENSP00000366169:Q827H;ENSP00000407879:Q802H;ENSP00000262269:Q835H	ENSP00000262269:Q835H	Q	+	3	2	MYH14	55456624	0.866000	0.29940	1.000000	0.80357	0.990000	0.78478	-0.030000	0.12308	0.209000	0.20645	0.555000	0.69702	CAG		PASS	0.647	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		7	41	7	41	---	---	---	---
DPRX	503834	broad.mit.edu	37	19	54137819	54137819	+	Silent	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:54137819C>A	ENST00000376650.1	+	2	114	c.63C>A	c.(61-63)acC>acA	p.T21T		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T21T(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GGAAACGAACCATGTTCACTA	0.433																																						uc002qcf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(61-63)ACC>ACA		divergent-paired related homeobox							170.0	147.0	155.0					19																	54137819		2203	4300	6503	SO:0001819	synonymous_variant	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54137819C>A		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.63C>A	19.37:g.54137819C>A							p.T21T	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	2	114	+	Ovarian(34;0.19)		21			Homeobox.			Silent	SNP	ENST00000376650.1	37	c.63C>A	CCDS33103.1																																																																																				PASS	0.433	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		45	157	45	157	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54313978	54313978	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:54313978A>G	ENST00000324134.6	-	3	1103	c.935T>C	c.(934-936)cTc>cCc	p.L312P	NLRP12_ENST00000354278.3_Missense_Mutation_p.L312P|NLRP12_ENST00000345770.5_Missense_Mutation_p.L312P|NLRP12_ENST00000391772.1_Missense_Mutation_p.L312P|NLRP12_ENST00000391775.3_Missense_Mutation_p.L312P|NLRP12_ENST00000535162.1_Missense_Mutation_p.L312P|NLRP12_ENST00000351894.4_Missense_Mutation_p.L312P|NLRP12_ENST00000391773.1_Missense_Mutation_p.L312P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	312	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.L312P(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCCAGCAGAGGCACCAGGG	0.572																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(934-936)CTC>CCC		NLR family, pyrin domain containing 12 isoform							44.0	47.0	46.0					19																	54313978		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313978A>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.935T>C	19.37:g.54313978A>G	ENSP00000319377:p.Leu312Pro					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.L312P|NLRP12_uc002qcj.3_Missense_Mutation_p.L312P|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L312P	p.L312P	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1155	-	Ovarian(34;0.19)		312			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.935T>C	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	A	5.415	0.261804	0.10239	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.74632	-0.78;-0.8;-0.85;-0.86;-0.82;-0.77;-0.83	4.47	-2.84	0.05751	NACHT nucleoside triphosphatase (1);	0.918896	0.08933	N	0.872672	T	0.67608	0.2911	L	0.35288	1.05	0.09310	N	0.999999	D;D;D;D	0.61080	0.989;0.989;0.989;0.98	P;P;P;P	0.58077	0.832;0.832;0.832;0.821	T	0.56986	-0.7888	10	0.30854	T	0.27	.	1.4635	0.02401	0.3953:0.265:0.0831:0.2565	.	312;312;312;312	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	P	312	ENSP00000319377:L312P;ENSP00000438030:L312P;ENSP00000340473:L312P;ENSP00000346231:L312P;ENSP00000375655:L312P;ENSP00000375653:L312P;ENSP00000375652:L312P	ENSP00000319377:L312P	L	-	2	0	NLRP12	59005790	0.000000	0.05858	0.093000	0.20910	0.734000	0.41952	-0.517000	0.06275	-0.472000	0.06881	0.254000	0.18369	CTC		PASS	0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		38	49	38	49	---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57646678	57646678	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:57646678C>A	ENST00000269834.1	-	5	1412	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	343					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.A343S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGGAAAAGGCCTTCTCACAT	0.403																																						uc002qnz.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1027-1029)GCC>TCC		zinc finger, imprinted 3							176.0	169.0	172.0					19																	57646678		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646678C>A	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1027G>T	19.37:g.57646678C>A	ENSP00000269834:p.Ala343Ser						p.A343S	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1413	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	343			C2H2-type 7.		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1027G>T	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125843	0.37533	.	.	ENSG00000141946	ENST00000269834	T	0.35973	1.28	2.71	1.64	0.23874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28896	0.0717	N	0.02685	-0.53	0.21878	N	0.999494	D	0.89917	1.0	D	0.91635	0.999	T	0.07947	-1.0746	9	0.52906	T	0.07	.	3.4986	0.07664	0.2456:0.6096:0.0:0.1448	.	343	Q96PE6	ZIM3_HUMAN	S	343	ENSP00000269834:A343S	ENSP00000269834:A343S	A	-	1	0	ZIM3	62338490	0.000000	0.05858	0.988000	0.46212	0.587000	0.36485	-0.572000	0.05881	0.457000	0.26962	0.313000	0.20887	GCC		PASS	0.403	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			51	283	51	283	---	---	---	---
ZNF329	79673	broad.mit.edu	37	19	58639467	58639467	+	Silent	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr19:58639467G>T	ENST00000598312.1	-	4	1637	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S	ZNF329_ENST00000358067.4_Silent_p.S468S	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S468S(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGGTCAGACAGGAGCTGTCCC	0.498																																						uc002qrn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1402-1404)TCC>TCA		zinc finger protein 329							92.0	87.0	89.0					19																	58639467		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639467G>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1404C>A	19.37:g.58639467G>T						ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.S468S	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1641	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	468			C2H2-type 10.		B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.1404C>A	CCDS12972.1																																																																																				PASS	0.498	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		4	159	4	159	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16254017	16254017	+	Missense_Mutation	SNP	C	C	G	rs369549554		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr20:16254017C>G	ENST00000354981.2	-	26	3992	c.3835G>C	c.(3835-3837)Gca>Cca	p.A1279P	KIF16B_ENST00000378003.2_Missense_Mutation_p.A464P|KIF16B_ENST00000355755.3_Missense_Mutation_p.A1249P	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1279	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.A1279P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGAGATGTTGCGGACTGGAGC	0.473																																						uc002wpg.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3835-3837)GCA>CCA		kinesin-like motor protein C20orf23							117.0	110.0	112.0					20																	16254017		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16254017C>G	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3835G>C	20.37:g.16254017C>G	ENSP00000347076:p.Ala1279Pro					KIF16B_uc002wpe.1_Missense_Mutation_p.A631P|KIF16B_uc002wpf.1_Missense_Mutation_p.A620P|KIF16B_uc010gch.1_Missense_Mutation_p.A1228P	p.A1279P	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			26	3993	-			1279			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3835G>C	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	5.357	0.251194	0.10130	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003	T;T;T	0.69561	-0.41;-0.36;2.57	5.87	3.78	0.43462	Phox homologous domain (2);	.	.	.	.	T	0.22742	0.0549	N	0.00152	-1.975	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.09377	0.002;0.004	T	0.30001	-0.9993	9	0.02654	T	1	.	7.8763	0.29595	0.0:0.6445:0.2616:0.0939	.	1238;1279	Q96L93-6;Q96L93	.;KI16B_HUMAN	P	1279;1249;1123;464	ENSP00000347076:A1279P;ENSP00000347995:A1249P;ENSP00000367242:A464P	ENSP00000347076:A1279P	A	-	1	0	KIF16B	16202017	0.788000	0.28762	0.006000	0.13384	0.732000	0.41865	1.540000	0.36115	1.426000	0.47256	0.655000	0.94253	GCA		PASS	0.473	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		39	88	39	88	---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356472	37356472	+	Silent	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr20:37356472C>T	ENST00000217420.1	+	2	1031	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	256					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.F256F(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTGCGCCTTCCTTAAGAACC	0.582																																						uc002xjc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)TTC>TTT		solute carrier family 32, member 1	Glycine(DB00145)						94.0	69.0	77.0					20																	37356472		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356472C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.768C>T	20.37:g.37356472C>T							p.F256F	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1031	+		Myeloproliferative disorder(115;0.00878)	256			Helical; (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.768C>T	CCDS13307.1																																																																																				PASS	0.582	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		12	55	12	55	---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356623	37356623	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr20:37356623C>A	ENST00000217420.1	+	2	1182	c.919C>A	c.(919-921)Ccc>Acc	p.P307T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	307					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.P307T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CAAGAAGTTCCCCATCTCCAT	0.542																																						uc002xjc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)CCC>ACC		solute carrier family 32, member 1	Glycine(DB00145)						88.0	68.0	75.0					20																	37356623		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356623C>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.919C>A	20.37:g.37356623C>A	ENSP00000217420:p.Pro307Thr						p.P307T	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1182	+		Myeloproliferative disorder(115;0.00878)	307			Helical; (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.919C>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897707	0.33535	.	.	ENSG00000101438	ENST00000217420	T	0.02177	4.41	4.73	3.77	0.43336	.	0.053526	0.85682	D	0.000000	T	0.09335	0.0230	M	0.78049	2.395	0.80722	D	1	D	0.60575	0.988	P	0.57548	0.823	T	0.01844	-1.1262	10	0.62326	D	0.03	-22.687	12.9209	0.58232	0.0:0.835:0.165:0.0	.	307	Q9H598	VIAAT_HUMAN	T	307	ENSP00000217420:P307T	ENSP00000217420:P307T	P	+	1	0	SLC32A1	36790037	1.000000	0.71417	0.996000	0.52242	0.025000	0.11179	7.756000	0.85195	1.117000	0.41842	-0.502000	0.04539	CCC		PASS	0.542	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		20	92	20	92	---	---	---	---
WFDC8	90199	broad.mit.edu	37	20	44181840	44181840	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr20:44181840T>A	ENST00000357199.4	-	5	599	c.521A>T	c.(520-522)gAt>gTt	p.D174V	WFDC8_ENST00000289953.2_Missense_Mutation_p.D174V	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	174	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D174V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CTGGGGACAATCGATGTCACT	0.468																																						uc002xow.2																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GAT>GTT		WAP four-disulfide core domain 8 precursor							143.0	117.0	126.0					20																	44181840		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181840T>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.521A>T	20.37:g.44181840T>A	ENSP00000361735:p.Asp174Val					WFDC8_uc002xox.2_Missense_Mutation_p.D174V	p.D174V	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			5	600	-		Myeloproliferative disorder(115;0.0122)	174			WAP 2.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.521A>T	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447139	0.63178	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.76186	-1.0;-1.0	4.91	4.91	0.64330	Whey acidic protein, 4-disulphide core (5);	0.227259	0.31221	N	0.008040	D	0.87253	0.6131	M	0.90542	3.125	0.53005	D	0.99996	D	0.89917	1.0	D	0.81914	0.995	D	0.89249	0.3589	10	0.87932	D	0	.	11.1142	0.48252	0.0:0.0:0.0:1.0	.	174	Q8IUA0	WFDC8_HUMAN	V	174	ENSP00000361735:D174V;ENSP00000289953:D174V	ENSP00000289953:D174V	D	-	2	0	WFDC8	43615254	0.598000	0.26882	0.485000	0.27403	0.027000	0.11550	3.288000	0.51739	2.200000	0.70718	0.533000	0.62120	GAT		PASS	0.468	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			56	142	56	142	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44684805	44684805	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr20:44684805A>T	ENST00000454036.2	+	22	2922	c.2873A>T	c.(2872-2874)gAt>gTt	p.D958V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D935V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	958					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.D935V(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTATCACAGATGAGTCACGA	0.552																																						uc010zxl.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(2872-2874)GAT>GTT		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						73.0	60.0	64.0					20																	44684805		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44684805A>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2873A>T	20.37:g.44684805A>T	ENSP00000387694:p.Asp958Val					SLC12A5_uc002xrb.2_Missense_Mutation_p.D935V	p.D958V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			22	2949	+		Myeloproliferative disorder(115;0.0122)	958			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2873A>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	8.685	0.906046	0.17760	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.87412	-2.25;-2.25	4.8	3.71	0.42584	.	0.123411	0.53938	D	0.000053	D	0.84750	0.5541	M	0.77313	2.365	0.80722	D	1	P;B	0.41313	0.745;0.08	B;B	0.35971	0.215;0.045	D	0.83879	0.0278	10	0.66056	D	0.02	.	9.6702	0.40008	0.9181:0.0:0.0819:0.0	.	958;935	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	958;935	ENSP00000387694:D958V;ENSP00000243964:D935V	ENSP00000243964:D935V	D	+	2	0	SLC12A5	44118212	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	8.761000	0.91691	0.874000	0.35823	-0.379000	0.06801	GAT		PASS	0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			31	78	31	78	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55033756	55033756	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr20:55033756G>A	ENST00000360314.3	+	7	2539	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	CASS4_ENST00000371336.3_Missense_Mutation_p.E772K|CASS4_ENST00000434344.1_Missense_Mutation_p.E335K|AL121914.1_ENST00000390795.2_RNA	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	772					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.E772K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGCGGAGGCTGAGAAGCTGGA	0.622																																						uc002xxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2314-2316)GAG>AAG		HEF-like protein isoform a							57.0	42.0	47.0					20																	55033756		2202	4299	6501	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033756G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2314G>A	20.37:g.55033756G>A	ENSP00000353462:p.Glu772Lys					CASS4_uc002xxr.2_Missense_Mutation_p.E772K|CASS4_uc010zze.1_Missense_Mutation_p.E718K|CASS4_uc010gio.2_Missense_Mutation_p.E335K	p.E772K	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			7	2539	+			772					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.2314G>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	9.155	1.017245	0.19355	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.21543	2.0;2.0;2.0	5.79	-7.68	0.01268	CAS family, DUF3513 (1);	0.660716	0.15816	N	0.243221	T	0.07503	0.0189	N	0.17082	0.46	0.09310	N	0.999995	B;B;B	0.16166	0.016;0.005;0.003	B;B;B	0.16289	0.015;0.006;0.011	T	0.39742	-0.9599	10	0.06099	T	0.92	-3.9509	9.5046	0.39040	0.2347:0.4807:0.2846:0.0	.	718;335;772	B4DII4;Q9NQ75-3;Q9NQ75	.;.;CASS4_HUMAN	K	772;772;335	ENSP00000353462:E772K;ENSP00000360387:E772K;ENSP00000410027:E335K	ENSP00000353462:E772K	E	+	1	0	CASS4	54467163	0.130000	0.22417	0.001000	0.08648	0.019000	0.09904	0.516000	0.22817	-1.265000	0.02449	-0.175000	0.13238	GAG		PASS	0.622	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		9	37	9	37	---	---	---	---
PCMTD2	55251	broad.mit.edu	37	20	62899256	62899256	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr20:62899256G>A	ENST00000308824.6	+	5	726	c.599G>A	c.(598-600)cGc>cAc	p.R200H	PCMTD2_ENST00000299468.7_Missense_Mutation_p.R200H|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000369758.4_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	200						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R200H(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGATAACACGCACAGGTCCT	0.373																																						uc002yil.3																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(598-600)CGC>CAC		protein-L-isoaspartate (D-aspartate)							105.0	99.0	101.0					20																	62899256		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62899256G>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.599G>A	20.37:g.62899256G>A	ENSP00000307854:p.Arg200His					PCMTD2_uc002yim.3_Intron	p.R200H	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN			5	799	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		200					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.599G>A	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	29.8	5.035045	0.93575	.	.	ENSG00000203880	ENST00000299468;ENST00000308824	T;T	0.48836	0.8;0.8	5.4	5.4	0.78164	.	0.049884	0.85682	N	0.000000	T	0.74680	0.3748	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78942	-0.2005	10	0.87932	D	0	-18.272	19.5253	0.95203	0.0:0.0:1.0:0.0	.	200	Q9NV79	PCMD2_HUMAN	H	200	ENSP00000299468:R200H;ENSP00000307854:R200H	ENSP00000299468:R200H	R	+	2	0	PCMTD2	62369700	1.000000	0.71417	0.768000	0.31515	0.974000	0.67602	8.689000	0.91265	2.696000	0.92011	0.650000	0.86243	CGC		PASS	0.373	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		18	130	18	130	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10908867	10908867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr21:10908867G>T	ENST00000361285.4	-	23	1807	c.1478C>A	c.(1477-1479)tCa>tAa	p.S493*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Nonsense_Mutation_p.S475*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.S455*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	493	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S493*(2)|p.S475*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAGTAAAATGAGCAATTGTC	0.289																																						uc002yip.1																			4	Substitution - Nonsense(4)		lung(4)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1477-1479)TCA>TAA		transmembrane phosphatase with tensin homology							123.0	115.0	118.0					21																	10908867		2202	4297	6499	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10908867G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1478C>A	21.37:g.10908867G>T	ENSP00000355208:p.Ser493*					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.S475*|TPTE_uc002yir.1_Nonsense_Mutation_p.S455*|TPTE_uc010gkv.1_Nonsense_Mutation_p.S355*	p.S493*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	1846	-			493			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.1478C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	20.7	4.039850	0.75732	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.18	2.18	0.27775	.	0.198430	0.43919	U	0.000506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-2.81	10.4863	0.44724	0.0:0.0:1.0:0.0	.	.	.	.	X	475;493;455	.	ENSP00000298232:S475X	S	-	2	0	TPTE	9930738	0.386000	0.25180	0.070000	0.20053	0.015000	0.08874	3.537000	0.53590	1.521000	0.48983	0.184000	0.17185	TCA		PASS	0.289	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			9	104	9	104	---	---	---	---
CYYR1	116159	broad.mit.edu	37	21	27852619	27852619	+	Silent	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr21:27852619A>T	ENST00000299340.4	-	3	649	c.306T>A	c.(304-306)acT>acA	p.T102T	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Silent_p.T102T	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	102						integral component of membrane (GO:0016021)		p.T102T(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TGTTGATGTGAGTCGTCCTGA	0.502																																						uc002ymd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)ACT>ACA		cysteine and tyrosine-rich 1 protein precursor							141.0	128.0	133.0					21																	27852619		2203	4300	6503	SO:0001819	synonymous_variant	116159					integral to membrane		g.chr21:27852619A>T	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.306T>A	21.37:g.27852619A>T						CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Silent_p.T102T	p.T102T	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN			3	628	-			102			Cytoplasmic (Potential).		A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	ENST00000299340.4	37	c.306T>A	CCDS13578.1																																																																																				PASS	0.502	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		35	126	35	126	---	---	---	---
IGSF5	150084	broad.mit.edu	37	21	41151188	41151188	+	Missense_Mutation	SNP	G	G	T	rs374675570		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr21:41151188G>T	ENST00000380588.4	+	5	993	c.890G>T	c.(889-891)tGc>tTc	p.C297F	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	297	Cys-rich.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.C297F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				tgttgtggctgcaactgctgc	0.468																																						uc002yyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)TGC>TTC		immunoglobulin superfamily 5 like							51.0	49.0	50.0					21																	41151188		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41151188G>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.890G>T	21.37:g.41151188G>T	ENSP00000369962:p.Cys297Phe						p.C297F	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			5	993	+		Prostate(19;5.35e-06)	297			Cytoplasmic (Potential).|Cys-rich.			Missense_Mutation	SNP	ENST00000380588.4	37	c.890G>T	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	4.467	0.086450	0.08583	.	.	ENSG00000183067	ENST00000380588	T	0.10763	2.84	4.18	-0.466	0.12153	.	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.22511	N	0.999038	B	0.27656	0.184	B	0.24155	0.051	T	0.40251	-0.9573	9	0.39692	T	0.17	.	4.522	0.11964	0.4139:0.2378:0.3484:0.0	.	297	Q9NSI5	IGSF5_HUMAN	F	297	ENSP00000369962:C297F	ENSP00000369962:C297F	C	+	2	0	IGSF5	40073058	0.000000	0.05858	0.963000	0.40424	0.002000	0.02628	-0.403000	0.07214	-0.084000	0.12595	-0.320000	0.08662	TGC		PASS	0.468	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			3	6	3	6	---	---	---	---
SMTN	6525	broad.mit.edu	37	22	31487126	31487126	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr22:31487126A>C	ENST00000347557.2	+	10	1335	c.1117A>C	c.(1117-1119)Acc>Ccc	p.T373P	SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000358743.1_Missense_Mutation_p.T373P|SMTN_ENST00000333137.7_Missense_Mutation_p.T373P	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	373					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.T373P(2)|p.T365P(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CACCAGCACCACCCCTGCCTC	0.672																																						uc003ajl.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|pancreas(1)	3						c.(1117-1119)ACC>CCC		smoothelin isoform c							43.0	47.0	46.0					22																	31487126		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31487126A>C	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1117A>C	22.37:g.31487126A>C	ENSP00000328635:p.Thr373Pro					SMTN_uc003ajk.1_Missense_Mutation_p.T373P|SMTN_uc003ajm.1_Missense_Mutation_p.T373P|SMTN_uc011ale.1_Missense_Mutation_p.T427P|SMTN_uc011alf.1_Missense_Mutation_p.T429P|SMTN_uc003ajn.1_Missense_Mutation_p.T365P|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	p.T373P	NM_006932	NP_008863	P53814	SMTN_HUMAN			10	1335	+			373					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1117A>C	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.07|15.07	2.723522|2.723522	0.48728|0.48728	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000329852|ENST00000358743;ENST00000347557;ENST00000333137;ENST00000404496	.|T;T;T	.|0.69040	.|0.06;-0.37;-0.36	4.99|4.99	2.8|2.8	0.32819|0.32819	.|.	.|1.348330	.|0.05438	.|N	.|0.547082	T|T	0.59432|0.59432	0.2193|0.2193	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P;P;D;D;P;P	.|0.57257	.|0.734;0.778;0.979;0.971;0.924;0.728	.|B;B;P;B;B;B	.|0.47299	.|0.255;0.322;0.543;0.405;0.361;0.346	T|T	0.57271|0.57271	-0.7840|-0.7840	6|9	0.35671|.	T|.	0.21|.	-12.8967|-12.8967	2.8393|2.8393	0.05524|0.05524	0.6271:0.0:0.1814:0.1915|0.6271:0.0:0.1814:0.1915	.|.	.|429;427;365;373;373;373	.|E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.|.;.;.;.;SMTN_HUMAN;.	P|P	372|373;373;373;365	.|ENSP00000351593:T373P;ENSP00000328635:T373P;ENSP00000329532:T373P	ENSP00000329393:H372P|.	H|T	+|+	2|1	0|0	SMTN|SMTN	29817126|29817126	0.733000|0.733000	0.28132|0.28132	0.998000|0.998000	0.56505|0.56505	0.852000|0.852000	0.48524|0.48524	1.150000|1.150000	0.31639|0.31639	0.827000|0.827000	0.34685|0.34685	0.397000|0.397000	0.26171|0.26171	CAC|ACC		PASS	0.672	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		7	76	7	76	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42290907	42290907	+	Nonsense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr22:42290907A>T	ENST00000361204.4	+	13	2627	c.2461A>T	c.(2461-2463)Aag>Tag	p.K821*	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	821					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K821*(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACCTCAGGCCAAGAAGAAGGC	0.582																																						uc003bbi.2																			1	Substitution - Nonsense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2461-2463)AAG>TAG		sterol regulatory element-binding transcription							73.0	74.0	73.0					22																	42290907		2203	4300	6503	SO:0001587	stop_gained	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42290907A>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2461A>T	22.37:g.42290907A>T	ENSP00000354476:p.Lys821*					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	p.K821*	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			13	2630	+			821			Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Nonsense_Mutation	SNP	ENST00000361204.4	37	c.2461A>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	41	8.683075	0.98914	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	.	.	.	5.96	3.48	0.39840	.	0.413510	0.29924	N	0.010841	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-17.0083	10.7363	0.46126	0.8487:0.0:0.1513:0.0	.	.	.	.	X	821	.	ENSP00000354476:K821X	K	+	1	0	SREBF2	40620853	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.052000	0.41316	1.048000	0.40298	0.533000	0.62120	AAG		PASS	0.582	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		31	125	31	125	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21519702	21519702	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:21519702C>T	ENST00000379510.3	+	8	842	c.806C>T	c.(805-807)aCt>aTt	p.T269I	CNKSR2_ENST00000543067.1_Missense_Mutation_p.T269I|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T269I|CNKSR2_ENST00000425654.2_Missense_Mutation_p.T269I	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	269	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.T269I(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATCATCAGACTGTGGTATGT	0.328																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(805-807)ACT>ATT		connector enhancer of kinase suppressor of Ras							48.0	42.0	44.0					X																	21519702		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21519702C>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.806C>T	X.37:g.21519702C>T	ENSP00000368824:p.Thr269Ile					CNKSR2_uc004czw.2_Missense_Mutation_p.T269I|CNKSR2_uc011mjn.1_Missense_Mutation_p.T269I|CNKSR2_uc011mjo.1_Missense_Mutation_p.T269I	p.T269I	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			8	842	+			269			PDZ.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.806C>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257238	0.80246	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.98	5.98	0.97165	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.965	D;D;D	0.97110	0.993;1.0;0.948	T	0.54609	-0.8268	10	0.51188	T	0.08	-11.0918	19.3518	0.94392	0.0:1.0:0.0:0.0	.	269;269;269	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	I	269	ENSP00000397906:T269I;ENSP00000444633:T269I;ENSP00000279451:T269I;ENSP00000368824:T269I	ENSP00000279451:T269I	T	+	2	0	CNKSR2	21429623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.017000	0.76399	2.524000	0.85096	0.544000	0.68410	ACT		PASS	0.328	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		11	27	11	27	---	---	---	---
MAGEB4	4115	broad.mit.edu	37	X	30261248	30261248	+	Silent	SNP	T	T	C	rs199557000		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:30261248T>C	ENST00000378982.2	+	1	1192	c.996T>C	c.(994-996)agT>agC	p.S332S	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	332								p.S332S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCATGACTAGTGCGTATTCCA	0.512																																						uc004dcb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(994-996)AGT>AGC		melanoma antigen family B, 4		T		0,3833		0,0,1631,571	53.0	44.0	47.0		996	-6.1	0.0	X		47	1,6727		0,1,2427,1872	no	coding-synonymous	MAGEB4	NM_002367.3		0,1,4058,2443	CC,CT,TT,T		0.0149,0.0,0.0095		332/347	30261248	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	4115							g.chrX:30261248T>C		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.996T>C	X.37:g.30261248T>C						MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.S332S	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	1080	+			332					B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	c.996T>C	CCDS14221.1																																																																																				PASS	0.512	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		24	17	24	17	---	---	---	---
XK	7504	broad.mit.edu	37	X	37587107	37587107	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:37587107A>T	ENST00000378616.3	+	3	930	c.727A>T	c.(727-729)Atc>Ttc	p.I243F	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	243					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.I243F(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TATAATACTCATCAACTTCTT	0.502																																						uc004ddq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)ATC>TTC		membrane transport protein XK							138.0	108.0	118.0					X																	37587107		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37587107A>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.727A>T	X.37:g.37587107A>T	ENSP00000367879:p.Ile243Phe						p.I243F	NM_021083	NP_066569	P51811	XK_HUMAN			3	809	+		all_lung(315;0.175)	243			Helical; (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.727A>T	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208010	0.39003	.	.	ENSG00000047597	ENST00000378616	T	0.63744	-0.06	5.41	-5.58	0.02512	.	0.932232	0.09183	N	0.837178	T	0.54549	0.1865	L	0.42245	1.32	0.20821	N	0.999847	B	0.26147	0.143	B	0.36567	0.228	T	0.54186	-0.8331	10	0.32370	T	0.25	-13.7289	12.5695	0.56328	0.1232:0.4182:0.4586:0.0	.	243	P51811	XK_HUMAN	F	243	ENSP00000367879:I243F	ENSP00000367879:I243F	I	+	1	0	XK	37472046	0.000000	0.05858	0.014000	0.15608	0.889000	0.51656	-1.518000	0.02246	-1.001000	0.03434	0.486000	0.48141	ATC		PASS	0.502	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		45	23	45	23	---	---	---	---
UBQLN2	29978	broad.mit.edu	37	X	56591637	56591637	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:56591637C>T	ENST00000338222.5	+	1	1612	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	444					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S444L(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GACACACTATCAGCCATGTCA	0.537																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1330-1332)TCA>TTA		ubiquilin 2							60.0	50.0	53.0					X																	56591637		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591637C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1331C>T	X.37:g.56591637C>T	ENSP00000345195:p.Ser444Leu					UBQLN2_uc011moq.1_Missense_Mutation_p.S444L	p.S444L	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1566	+			444					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.1331C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804090	0.50315	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.85411	-1.98	4.63	4.63	0.57726	Heat shock chaperonin-binding (1);	0.334556	0.25590	N	0.029630	T	0.80336	0.4604	L	0.49350	1.555	0.37901	D	0.931031	B;P	0.47409	0.161;0.895	B;B	0.39904	0.071;0.313	T	0.81690	-0.0818	10	0.29301	T	0.29	-2.3706	14.0891	0.64977	0.0:1.0:0.0:0.0	.	444;444	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	L	444	ENSP00000345195:S444L	ENSP00000345195:S444L	S	+	2	0	UBQLN2	56608362	1.000000	0.71417	0.767000	0.31495	0.967000	0.64934	5.650000	0.67944	2.290000	0.77057	0.594000	0.82650	TCA		PASS	0.537	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		11	36	11	36	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65486440	65486440	+	Missense_Mutation	SNP	C	C	G	rs73217443		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:65486440C>G	ENST00000343002.2	+	20	4067	c.3403C>G	c.(3403-3405)Cga>Gga	p.R1135G	HEPH_ENST00000419594.1_Missense_Mutation_p.R946G|HEPH_ENST00000336279.5_Missense_Mutation_p.R868G|HEPH_ENST00000519389.1_Missense_Mutation_p.R1189G|HEPH_ENST00000374727.3_Missense_Mutation_p.R1138G|HEPH_ENST00000441993.2_Missense_Mutation_p.R1137G			Q9BQS7	HEPH_HUMAN	hephaestin	1135					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.R1135G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTACCAACATCGACAGAGAAA	0.478																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(3412-3414)CGA>GGA		hephaestin isoform a							277.0	185.0	216.0					X																	65486440		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486440C>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3403C>G	X.37:g.65486440C>G	ENSP00000343939:p.Arg1135Gly					HEPH_uc004dwn.2_Missense_Mutation_p.R1137G|HEPH_uc004dwo.2_Missense_Mutation_p.R868G|HEPH_uc010nkr.2_Missense_Mutation_p.R946G|HEPH_uc011mpa.1_Missense_Mutation_p.R1138G	p.R1138G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			21	3472	+			1135			Cytoplasmic (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3412C>G		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	8.494	0.862591	0.17178	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99388	-5.8;-5.76;-5.76;-5.81;-5.81;-5.76	5.6	1.3	0.21679	.	0.299825	0.23090	N	0.052056	D	0.97306	0.9119	L	0.29908	0.895	0.09310	N	1	P;P;P	0.49862	0.753;0.929;0.68	B;P;B	0.45195	0.325;0.473;0.27	D	0.93903	0.7190	10	0.48119	T	0.1	.	12.2395	0.54534	0.6117:0.3883:0.0:0.0	.	1189;946;1135	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	G	1189;1138;868;1137;946;1135	ENSP00000430620:R1189G;ENSP00000363859:R1138G;ENSP00000337418:R868G;ENSP00000411687:R1137G;ENSP00000413211:R946G;ENSP00000343939:R1135G	ENSP00000337418:R868G	R	+	1	2	HEPH	65403165	0.057000	0.20700	0.251000	0.24312	0.053000	0.15095	0.544000	0.23253	0.494000	0.27859	-0.237000	0.12165	CGA		PASS	0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		21	32	21	32	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	86069820	86069820	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:86069820G>T	ENST00000373125.4	+	10	1667	c.1667G>T	c.(1666-1668)gGc>gTc	p.G556V	DACH2_ENST00000510272.1_Missense_Mutation_p.G337V|DACH2_ENST00000373131.1_Missense_Mutation_p.G543V|DACH2_ENST00000508860.1_Missense_Mutation_p.G389V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	556					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G556V(9)|p.G543V(9)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGTGACAGTGGCCTGAGGATG	0.398																																						uc004eew.2																			18	Substitution - Missense(18)		endometrium(8)|kidney(8)|lung(2)	ovary(4)|pancreas(1)	5						c.(1666-1668)GGC>GTC		dachshund 2 isoform a							57.0	48.0	51.0					X																	86069820		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86069820G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1667G>T	X.37:g.86069820G>T	ENSP00000362217:p.Gly556Val					DACH2_uc004eex.2_Missense_Mutation_p.G543V|DACH2_uc010nmq.2_Missense_Mutation_p.G422V|DACH2_uc011mra.1_Missense_Mutation_p.G389V|DACH2_uc010nmr.2_Missense_Mutation_p.G337V|DACH2_uc004eey.2_Missense_Mutation_p.G249V|DACH2_uc004eez.2_Missense_Mutation_p.G239V	p.G556V	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			10	1837	+			556					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1667G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667616	0.29604	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82433	-1.57;-1.61	4.76	4.76	0.60689	.	0.153373	0.30410	N	0.009683	D	0.84451	0.5475	L	0.34521	1.04	0.80722	D	1	B;B;D;P	0.61697	0.172;0.085;0.99;0.793	B;B;P;B	0.60068	0.038;0.054;0.868;0.254	T	0.82857	-0.0250	10	0.27082	T	0.32	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	422;556;543;556	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	V	556;543;556;389;337;389;221	ENSP00000362223:G543V;ENSP00000362217:G556V	ENSP00000345134:G556V	G	+	2	0	DACH2	85956476	0.999000	0.42202	0.958000	0.39756	0.913000	0.54294	3.863000	0.56016	1.932000	0.55993	0.415000	0.27848	GGC		PASS	0.398	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		4	28	4	28	---	---	---	---
NXF5	55998	broad.mit.edu	37	X	101096717	101096717	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:101096717C>A	ENST00000361708.2	-	5	528	c.169G>T	c.(169-171)Gtc>Ttc	p.V57F	NXF5_ENST00000537026.1_Missense_Mutation_p.V57F|NXF5_ENST00000473265.2_Missense_Mutation_p.V57F			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	57	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V57F(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GCAACCTGGACAAAGAAGCAT	0.498																																						uc011mrk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(169-171)GTC>TTC		nuclear RNA export factor 5							175.0	144.0	155.0					X																	101096717		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096717C>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.169G>T	X.37:g.101096717C>A	ENSP00000355286:p.Val57Phe					NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	p.V57F	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			5	529	-			57			RRM.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.169G>T		.	.	.	.	.	.	.	.	.	.	.	13.72	2.320936	0.41096	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.58210	0.35;0.35;0.35	2.18	2.18	0.27775	.	0.177863	0.35124	U	0.003440	T	0.72301	0.3443	M	0.90759	3.145	0.35915	D	0.831387	D	0.89917	1.0	D	0.85130	0.997	T	0.78831	-0.2049	10	0.87932	D	0	.	7.3337	0.26596	0.0:1.0:0.0:0.0	.	57	A2RRM0	.	F	57	ENSP00000442401:V57F;ENSP00000426978:V57F;ENSP00000355286:V57F	ENSP00000263032:V57F	V	-	1	0	NXF5	100983373	0.932000	0.31603	0.725000	0.30721	0.017000	0.09413	0.322000	0.19576	1.421000	0.47157	0.401000	0.26515	GTC		PASS	0.498	NXF5-201	KNOWN	basic	protein_coding	protein_coding				4	134	4	134	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110491210	110491210	+	Missense_Mutation	SNP	G	G	T	rs12851568		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:110491210G>T	ENST00000324068.1	-	11	1662	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	CAPN6_ENST00000541758.1_Missense_Mutation_p.L244M	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	499					microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.L499M(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GGCATGTCCAGAGTCAGTTCC	0.428																																						uc004epc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1495-1497)CTG>ATG		calpain 6							189.0	177.0	181.0					X																	110491210		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491210G>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1495C>A	X.37:g.110491210G>T	ENSP00000317214:p.Leu499Met					CAPN6_uc011msu.1_Missense_Mutation_p.L244M	p.L499M	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			11	1663	-			499					D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1495C>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003578	0.54254	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.89485	-2.52;-2.28	5.61	1.01	0.19927	.	0.467868	0.18377	N	0.143079	D	0.88676	0.6501	L	0.43923	1.385	0.29393	N	0.862499	D	0.69078	0.997	D	0.65987	0.94	T	0.80970	-0.1144	10	0.45353	T	0.12	.	4.4774	0.11750	0.2014:0.0:0.5131:0.2855	.	499	Q9Y6Q1	CAN6_HUMAN	M	499;244	ENSP00000317214:L499M;ENSP00000441736:L244M	ENSP00000317214:L499M	L	-	1	2	CAPN6	110377866	0.000000	0.05858	0.969000	0.41365	0.973000	0.67179	-0.949000	0.03893	-0.156000	0.11079	0.600000	0.82982	CTG		PASS	0.428	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			68	111	68	111	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122757941	122757941	+	Silent	SNP	A	A	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:122757941A>C	ENST00000245838.8	-	27	3319	c.3288T>G	c.(3286-3288)gtT>gtG	p.V1096V	THOC2_ENST00000355725.4_Silent_p.V1096V|THOC2_ENST00000491737.1_Silent_p.V981V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1096					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.V1096V(1)|p.V1017V(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATTTATGTACAACATGTCGAA	0.318																																						uc004etu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(3286-3288)GTT>GTG		THO complex 2							122.0	100.0	107.0					X																	122757941		1812	4073	5885	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122757941A>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3288T>G	X.37:g.122757941A>C						THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	p.V1096V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			27	3320	-			1096					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.3288T>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	4.777	0.144396	0.09134	.	.	ENSG00000125676	ENST00000438358	.	.	.	5.78	0.203	0.15195	.	.	.	.	.	T	0.57198	0.2037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50898	-0.8773	4	.	.	.	-12.8908	9.8561	0.41086	0.2692:0.5887:0.1421:0.0	.	.	.	.	G	169	.	.	C	-	1	0	THOC2	122585622	0.984000	0.35163	0.999000	0.59377	0.994000	0.84299	0.326000	0.19646	-0.010000	0.14271	-0.360000	0.07572	TGT		PASS	0.318	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			24	45	24	45	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128722987	128722987	+	Silent	SNP	A	A	G			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:128722987A>G	ENST00000371113.4	+	22	2631	c.2466A>G	c.(2464-2466)cgA>cgG	p.R822R	OCRL_ENST00000357121.5_Silent_p.R814R	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	822	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R822R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGATCTGCCGACAGGTGGGTT	0.522																																						uc004euq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(2464-2466)CGA>CGG		phosphatidylinositol polyphosphate 5-phosphatase							106.0	83.0	91.0					X																	128722987		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128722987A>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2466A>G	X.37:g.128722987A>G						OCRL_uc004eur.2_Silent_p.R814R|OCRL_uc010nrb.2_RNA	p.R822R	NM_000276	NP_000267	Q01968	OCRL_HUMAN			22	2631	+			822			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.2466A>G	CCDS35393.1																																																																																				PASS	0.522	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		31	40	31	40	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140953296	140953296	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrX:140953296C>T	ENST00000298296.1	+	2	163	c.163C>T	c.(163-165)Cat>Tat	p.H55Y		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	55								p.H55Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCCTTTCATCTTGGGCA	0.512																																						uc011mwp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(163-165)CAT>TAT		melanoma antigen family C, 3 isoform 1							195.0	155.0	168.0					X																	140953296		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140953296C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.163C>T	X.37:g.140953296C>T	ENSP00000298296:p.His55Tyr						p.H55Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			2	163	+	Acute lymphoblastic leukemia(192;6.56e-05)		55					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.163C>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771012	0.15983	.	.	ENSG00000165509	ENST00000298296	T	0.08458	3.09	2.12	1.21	0.21127	.	.	.	.	.	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.33266	0.404	B	0.15484	0.013	T	0.39800	-0.9596	9	0.87932	D	0	.	5.3343	0.15949	0.3354:0.6646:0.0:0.0	.	55	Q8TD91	MAGC3_HUMAN	Y	55	ENSP00000298296:H55Y	ENSP00000298296:H55Y	H	+	1	0	MAGEC3	140780962	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.249000	0.08842	0.334000	0.23590	0.544000	0.68410	CAT		PASS	0.512	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		31	37	31	37	---	---	---	---
TSPY2	64591	broad.mit.edu	37	Y	6115633	6115633	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chrY:6115633T>C	ENST00000320701.4	+	3	641	c.595T>C	c.(595-597)Tgc>Cgc	p.C199R	TSPY2_ENST00000383042.1_Missense_Mutation_p.C199R	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	199					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.C199R(1)		liver(1)|lung(4)|prostate(1)|skin(1)	7						TGTTCATCTCTGCAAGATCAT	0.468																																						uc004fqr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(595-597)TGC>CGC		testis specific protein, Y-linked 2																																				SO:0001583	missense	64591				cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus		g.chrY:6115633T>C	AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.595T>C	Y.37:g.6115633T>C	ENSP00000314077:p.Cys199Arg					TSPY2_uc004fqs.1_Missense_Mutation_p.C199R	p.C199R	NM_022573	NP_072095	A6NKD2	TSPY2_HUMAN			3	641	+			199						Missense_Mutation	SNP	ENST00000320701.4	37	c.595T>C	CCDS35465.1	.	.	.	.	.	.	.	.	.	.	.	4.422	0.078064	0.08485	.	.	ENSG00000168757	ENST00000383042	T	0.25414	1.8	.	.	.	.	.	.	.	.	T	0.07999	0.0200	L	0.46819	1.47	0.26714	N	0.970919	P;B	0.34934	0.476;0.153	B;B	0.32211	0.142;0.115	T	0.19582	-1.0301	5	.	.	.	.	.	.	.	.	199;199	A6NGT6;A6NKD2	.;TSPY2_HUMAN	R	199	ENSP00000372512:C199R	.	C	+	1	0	TSPY2	6175633	0.999000	0.42202	0.350000	0.25708	0.095000	0.18619	2.065000	0.41442	0.455000	0.26910	0.055000	0.15244	TGC		PASS	0.468	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098313.1	NM_022573		77	382	77	382	---	---	---	---
RIC8A	60626	broad.mit.edu	37	11	212501	212501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr11:212501delT	ENST00000526104.1	+	6	2399	c.1055delT	c.(1054-1056)ctgfs	p.L352fs	RIC8A_ENST00000527696.1_Frame_Shift_Del_p.L346fs|RIC8A_ENST00000325207.5_Frame_Shift_Del_p.L352fs			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	352					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGAAGTTCCTGAAGGCCCAG	0.587																																						uc001log.2																			0					0						c.(1054-1056)CTGfs		resistance to inhibitors of cholinesterase 8							47.0	45.0	46.0					11																	212501		2202	4300	6502	SO:0001589	frameshift_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:212501delT	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1055delT	11.37:g.212501delT	ENSP00000432008:p.Leu352fs					RIC8A_uc001lof.2_Frame_Shift_Del_p.L352fs|RIC8A_uc001loh.2_Frame_Shift_Del_p.L345fs	p.L352fs	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	6	1380	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	352					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Frame_Shift_Del	DEL	ENST00000526104.1	37	c.1055delT																																																																																						0.587	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		26	12	26	12	---	---	---	---
HMGB3P1	128872	broad.mit.edu	37	20	33421797	33421797	+	IGR	DEL	T	T	-	rs200631461		TCGA-60-2726-01A-01D-1522-08	TCGA-60-2726-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a96eddfc-3afb-4bf8-a440-c91778113fbd	f318c548-d5f1-41a6-80f3-db1a98ad8530	g.chr20:33421797delT								NCOA6 (8345 upstream) : GGT7 (10725 downstream)																							TCTCTCTCTCttttttttttt	0.468																																						uc002xax.2																			0					0								Homo sapiens high-mobility group (nonhistone chromosomal) protein 4-like, mRNA (cDNA clone IMAGE:40002762).																																				SO:0001628	intergenic_variant	128872							g.chr20:33421797delT																													20.37:g.33421797delT								NR_002165						1		-									RNA	DEL		37	c.469delA																																																																																				0		0.468									3	3	3	3	---	---	---	---
